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Journal articles on the topic 'Genetic families'

Author: Grafiati

Published: 3 June 2025

Last updated: 31 July 2025

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1

Maxwell, Susannah J., Caron M. Molster, Samantha J. Poke, and Peter O'leary. "Communicating Familial Hypercholesterolemia Genetic Information Within Families." Genetic Testing and Molecular Biomarkers 13, no. 3 (2009): 301–6. http://dx.doi.org/10.1089/gtmb.2008.0138.

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2

McDaniel, Susan H., and Thomas L. Campbell. "Genetic testing and families." Families, Systems, & Health 17, no. 1 (1999): 1–3. http://dx.doi.org/10.1037/h0089988.

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3

Fletcher, Jason M., and Steven F. Lehrer. "Genetic lotteries within families." Journal of Health Economics 30, no. 4 (2011): 647–59. http://dx.doi.org/10.1016/j.jhealeco.2011.04.005.

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4

Bishop, Kathleen Kirk. "Psychosocial Aspects of Genetic Disorders: Implications for Practice." Families in Society: The Journal of Contemporary Social Services 74, no. 4 (1993): 207–12. http://dx.doi.org/10.1177/104438949307400402.

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Generic disorders can potentially interfere with interpersonal relationships and normal social develop' ment as well as disrupt family life. As scientific and technological advances in medical genetics provide health professionals with a more comprehensive understanding of the origin, implications, and management of genetic disorders, professionals acquire expanded responsibilities. Social workers, who are often involved with individuals and families on a long-term basis, play an instrumental role in helping individuals and families make the necessary emotional and social adjustments following

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5

Carrera, P., M. Piatti, S. Stenirri, et al. "Genetic heterogeneity in Italian families with familial hemiplegic migraine." Neurology 53, no. 1 (1999): 26. http://dx.doi.org/10.1212/wnl.53.1.26.

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6

Rende, Richard, and Robert Plomin. "Families at risk for psychopathology: Who becomes affected and why?" Development and Psychopathology 5, no. 4 (1993): 529–40. http://dx.doi.org/10.1017/s0954579400006143.

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AbstractWe examine resilience in relation to one type of risk — familial risk — from a genetic perspective. Specifically, we ask why only some children growing up with the same familial risk develop psychopathology. Unlike environmental theories, genetics predicts that children in the same family will differ in their outcomes. That is, some children in a family at risk are unaffected not because they are resilient but because they are not at risk genetically. Eventually, some of the genes responsible for genetic risk will be identified, making it possible to predict which children in a family

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7

Yu, Hongyao, and Kari Hemminki. "Genetic epidemiology of colorectal cancer and associated cancers." Mutagenesis 35, no. 3 (2019): 207–19. http://dx.doi.org/10.1093/mutage/gez022.

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Abstract We review here data on familial risk in colorectal cancer (CRC) generated from the Swedish Family-Cancer Database, the largest resource of its kind in the world. Although the concordant familial risk for CRC (i.e. CRC risk in families of CRC patients) has been reasonably well established, the studies on discordant familial risks (i.e. CRC risk in families with any other cancers) are rare. Because different cancers could be caused by shared genetic susceptibility or shared environment, data of associations of discordant cancers may provide useful information for identifying common risk

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8

Luhrs, Kyleen, Tracey Ward, Caitlin M. Hudac, et al. "Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism." Autism Research and Treatment 2017 (2017): 1–9. http://dx.doi.org/10.1155/2017/9371964.

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The purpose of this study was to examine the confluence of genetic and familial risk factors in children with Autism Spectrum Disorder (ASD) with distinct de novo genetic events. We hypothesized that gene-disrupting mutations would be associated with reduced rates of familial psychiatric disorders relative to structural mutations. Participants included families of children with ASD in four groups: de novo duplication copy number variations (DUP, n=62), de novo deletion copy number variations (DEL, n=74), de novo likely gene-disrupting mutations (LGDM, n=267), and children without a known genet

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Jans, D., Y. Abakkouy, S. Becelaere, S. Verstockt, S. Vermeire, and I. Cleynen. "P1191 Genetic determinants for smoking behaviour improve our understanding of sporadic versus familial Inflammatory Bowel Disease." Journal of Crohn's and Colitis 18, Supplement_1 (2024): i2122—i2123. http://dx.doi.org/10.1093/ecco-jcc/jjad212.1321.

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Abstract Background Inflammatory bowel disease (IBD) is influenced by genetic and environmental factors. The latter are often difficult to quantify and may vary over time, unlike genetics. Here, instead of looking at actual smoking behaviour, we explored the impact of genetic determinants of smoking behaviour on IBD risk in sporadic and familial IBD. Methods We calculated polygenic scores (PRS) for smoking initiation, smoking cessation, age of smoking initiation, and cigarettes per day in 2784 sporadic cases (1700 CD, 1084 UC), 682 non-IBD controls, and 60 multiplex IBD families with ≥3 affect

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10

Chan, L., D. A. P. Bundy, and S. P. Kan. "Genetic relatedness as a determinant of predisposition to Ascaris lumbricoides and Trichuris trichiura infection." Parasitology 108, no. 1 (1994): 77–80. http://dx.doi.org/10.1017/s0031182000078549.

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SUMMARYThe present study examines the role of host genetics in predisposition to Ascaris lumbricoides and Trichuris trichiura infection, by comparing the associations between age-standardized infection intensities of parents and their children (genetically related), with age-standardized infection intensities of parents alone (not related), within families previously demonstrated to exhibit familial predisposition. The lack of a consistent trend in infection intensity associations within families, in particular the lack of a stronger association between parents and their children than between

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11

Bilir, Nebi. "Morphological variations among families of Manna Ash (FRAXINUS ORNUS L.)." Forestry Engineering Journal 15, no. 2 (2025): 6–14. https://doi.org/10.34220/issn.2222-7962/2025.2/1.

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Variations, narrow-sense heritability, and correlations for height and diameter at base were examined in a 15- years progeny trial established by 30 open pollinated families of Manna ash (Fraxinus ornus L. subsp. cilicica) to con-tribute genetics-breeding practices of the species. Averages of tree height and diameter at base of the family were 318.5 cm and 62.5 mm in the families, while there were large differences among trees within family for the characteristics. Averages of families ranged from 285.6 cm to 359.2 cm for tree height, and between 55.3 mm and 70.5 mm for diam-eter at base. They

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12

Noakes, Amy. "Supporting families with genetic conditions." Practice Management 30, no. 2 (2020): 38–39. http://dx.doi.org/10.12968/prma.2020.30.2.38.

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13

Oliphant, Erin N., and Sharon F. Terry. "Reuniting Families Using Genetic Testing?" Genetic Testing and Molecular Biomarkers 22, no. 8 (2018): 453–55. http://dx.doi.org/10.1089/gtmb.2018.0201.

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14

Palermo, G. D., M. Kent-First, T. Oskedar, Q. V. Neri, N. Takeshita, and Z. Rosenwaks. "Genetic screening of ICSI families." Fertility and Sterility 76, no. 3 (2001): S172. http://dx.doi.org/10.1016/s0015-0282(01)02507-9.

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15

Chang-Claude, Jenny, Heiko Becher, Maria Caligo, et al. "Risk Estimation as a Decision-Making Tool for Genetic Analysis of the Breast Cancer Susceptibility Genes." Disease Markers 15, no. 1-3 (1999): 53–65. http://dx.doi.org/10.1155/1999/238375.

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For genetic counselling of a woman on familial breast cancer, an accurate evaluation of the probability that she carries a germ-line mutation is needed to assist in making decisions about genetic-testing.We used data from eight collaborating centres comprising 618 families (346 breast cancer only, 239 breast or ovarian cancer) recruited as research families or counselled for familial breast cancer, representing a broad range of family structures. Screening was performed in affected women from 618 families for germ-line mutations in BRCA1 and in 176 families for BRCA2 mutations, using different

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16

Floros, Joanna. "GENETIC STUDY OF RDS." Pediatrics 94, no. 1 (1994): 28. http://dx.doi.org/10.1542/peds.94.1.28.

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Blood specimens are needed for genetic studies of the surfactant protein genes. We would like to receive specimens from prematurely born infants with and without RDS. We are particularly interested in specimens from families that exhibit familial tendency for RDS and specimens from twin or multiple births with and without RDS.

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17

Speer, Marcy C., Timothy M. George, David S. Enterline, Amy Franklin, Chantelle M. Wolpert, and Thomas H. Milhorat. "A genetic hypothesis for Chiari I malformation with or without syringomyelia." Neurosurgical Focus 8, no. 3 (2000): 1–4. http://dx.doi.org/10.3171/foc.2000.8.3.12.

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In several reports the authors have suggested occasional familial aggregation of syringomyelia and/or Chiari 1 malformation (CM1). Familial aggregation is one characteristic of traits that have an underlying genetic basis. The authors provide evidence for familial aggregation of CM1 and syringomyelia (CM1/S) in a large series of families, establishing that there may be a genetic component to CM1/S in at least a subset of families. The authors observed no cases of isolated familial syringomyelia in their family studies, suggesting that familial syringomyelia is more accurately classified as fam

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18

Oosterwijk, Jan C., Jakob de Vries, Marian J. Mourits, and Geertruida H. de Bock. "Genetic testing and familial implications in breast-ovarian cancer families." Maturitas 78, no. 4 (2014): 252–57. http://dx.doi.org/10.1016/j.maturitas.2014.05.002.

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19

Barrisford, Glen W., Eric A. Singer, Inger L. Rosner, W. Marston Linehan, and Gennady Bratslavsky. "Familial Renal Cancer: Molecular Genetics and Surgical Management." International Journal of Surgical Oncology 2011 (2011): 1–11. http://dx.doi.org/10.1155/2011/658767.

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Familial renal cancer (FRC) is a heterogeneous disorder comprised of a variety of subtypes. Each subtype is known to have unique histologic features, genetic alterations, and response to therapy. Through the study of families affected by hereditary forms of kidney cancer, insights into the genetic basis of this disease have been identified. This has resulted in the elucidation of a number of kidney cancer gene pathways. Study of these pathways has led to the development of novel targeted molecular treatments for patients affected by systemic disease. As a result, the treatments for families af

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20

Mescheriakova, Julia Y., Linda Broer, Simin Wahedi, André G. Uitterlinden, Cornelia M. van Duijn, and Rogier Q. Hintzen. "Burden of genetic risk variants in multiple sclerosis families in the Netherlands." Multiple Sclerosis Journal - Experimental, Translational and Clinical 2 (January 1, 2016): 205521731664872. http://dx.doi.org/10.1177/2055217316648721.

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Background Approximately 20% of multiple sclerosis patients have a family history of multiple sclerosis. Studies of multiple sclerosis aggregation in families are inconclusive. Objective To investigate the genetic burden based on currently discovered genetic variants for multiple sclerosis risk in patients from Dutch multiple sclerosis multiplex families versus sporadic multiple sclerosis cases, and to study its influence on clinical phenotype and disease prediction. Methods Our study population consisted of 283 sporadic multiple sclerosis cases, 169 probands from multiplex families and 2028 c

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21

Chebbi, D., M. Jallouli, M. Snoussi, et al. "Familial lupus in Tunisia: a series of 14 families." Lupus 29, no. 1 (2019): 92–95. http://dx.doi.org/10.1177/0961203319889663.

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The relatively high prevalence of systemic lupus erythematosus (SLE) in familial cases supports genetic susceptibility to this disease. Although many advances have been made in the identification of new genes implicated in lupus pathogenesis, to date, there has been no large study of familial SLE. We report what we believe to be the first study of familial SLE in the North African population. The objectives of this study were to determine the main clinical and laboratory features of familial lupus and to compare them to sporadic lupus in a population of Tunisian patients. Fourteen families in

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22

An, Joon-Yong, Jae Ho Jung, Leejee Choi, Eric D. Wieben, and Brian G. Mohney. "Identification of Possible Risk Variants of Familial Strabismus Using Exome Sequencing Analysis." Genes 12, no. 1 (2021): 75. http://dx.doi.org/10.3390/genes12010075.

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Purpose: To investigate candidate genes associated with familial strabismus and propose a theory of their interaction in familial strabismus associated with early neurodevelopment. Methods: Eighteen families, including 53 patients diagnosed with strabismus and 34 unaffected family members, were analyzed. All patients with strabismus and available unaffected family members were evaluated using whole exome sequencing. The primary outcome was to identify rare occurring variants among affected individuals and investigate the evidence of their genetic heterogeneity. These results were compared with

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23

An, Joon-Yong, Jae Ho Jung, Leejee Choi, Eric D. Wieben, and Brian G. Mohney. "Identification of Possible Risk Variants of Familial Strabismus Using Exome Sequencing Analysis." Genes 12, no. 1 (2021): 75. http://dx.doi.org/10.3390/genes12010075.

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Purpose: To investigate candidate genes associated with familial strabismus and propose a theory of their interaction in familial strabismus associated with early neurodevelopment. Methods: Eighteen families, including 53 patients diagnosed with strabismus and 34 unaffected family members, were analyzed. All patients with strabismus and available unaffected family members were evaluated using whole exome sequencing. The primary outcome was to identify rare occurring variants among affected individuals and investigate the evidence of their genetic heterogeneity. These results were compared with

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24

Boujelben, I., M. Chaabane, I. Ben ayed, et al. "Familial Autism Spectrum Disorder : A clinical study from South Tunisia." European Psychiatry 66, S1 (2023): S390—S391. http://dx.doi.org/10.1192/j.eurpsy.2023.844.

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IntroductionAutism Spectrum Disorder (ASD) is a multifactorial neurodevelopmental disorder, with both contribution of genetic and non-genetic factors. A collaboration of de novo mutations and prenatal with postnatal environmental factors are likely to play a role. ASD can be syndromic or non-syndromic. The etiology of non-syndromic ASD is still relatively undefined due to its genetic heterogeneity. Contrary to non-syndromic ASD, syndromic ASD is often associated with chromosomal abnormalities or monogenic alterations. Familial cases of ASD support the strong genetic component of ASD.Objectives

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25

Müller, Kathrin, David Brenner, Patrick Weydt, et al. "Comprehensive analysis of the mutation spectrum in 301 German ALS families." Journal of Neurology, Neurosurgery & Psychiatry 89, no. 8 (2018): 817–27. http://dx.doi.org/10.1136/jnnp-2017-317611.

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ObjectivesRecent advances in amyotrophic lateral sclerosis (ALS) genetics have revealed that mutations in any of more than 25 genes can cause ALS, mostly as an autosomal-dominant Mendelian trait. Detailed knowledge about the genetic architecture of ALS in a specific population will be important for genetic counselling but also for genotype-specific therapeutic interventions.MethodsHere we combined fragment length analysis, repeat-primed PCR, Southern blotting, Sanger sequencing and whole exome sequencing to obtain a comprehensive profile of genetic variants in ALS disease genes in 301 German p

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26

Jans, D., H. S. Lee, M. Ferrante, S. Vermeire, and I. Cleynen. "P901 A genetic analysis of familial aggregation in Inflammatory Bowel Disease multiplex families." Journal of Crohn's and Colitis 17, Supplement_1 (2023): i1013—i1015. http://dx.doi.org/10.1093/ecco-jcc/jjac190.1031.

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Abstract Background Relatives of patients with inflammatory bowel disease (IBD) have a higher risk to develop IBD than the general population. In some families, even a remarkably high prevalence of disease is found. Here, we aim to determine the role of the known IBD risk loci in familial aggregation of disease, as well as to study if there are common variants specific to familial IBD. Methods Imputed immunochip genotypes of 55 families [157 Crohn’s disease (CD), 29 ulcerative colitis (UC) and 138 unaffected relatives] that have at least three affected, first-degree relatives were used. A spor

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27

Cervantes-Henríquez, M. L., J. E. Acosta-López, M. L. Martínez-Banfi, et al. "ADHD Endophenotypes in Caribbean Families." Journal of Attention Disorders 24, no. 14 (2018): 2100–2114. http://dx.doi.org/10.1177/1087054718763741.

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Objective: The aim of this study is to contrast the genetics of neuropsychological tasks in individuals from nuclear families clustering ADHD in a Caribbean community. Method: We recruited and clinically characterized 408 individuals using an extensive battery of neuropsychological tasks. The genetic variance underpinning these tasks was estimated by heritability. A predictive framework for ADHD diagnosis was derived using these tasks. Results: We found that individuals with ADHD differed from controls in tasks of mental control, visuospatial ability, visuoverbal memory, phonological and verba

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28

Golubovsky, Michael. "Paternal Familial Twinning: Hypothesis and Genetic/Medical Implications." Twin Research 5, no. 2 (2002): 75–86. http://dx.doi.org/10.1375/twin.5.2.75.

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AbstractThe phenomenon of paternally dependent familial twinning has been known in human and animal genetics since the 1920s, but still remains without any theoretical explanation and is indeed a neglected field of inquiry. Over the last two decades investigations in reproduction biology have discovered the significant role of multiple paternally dependent errors in fertilization including androgenic triploidy and moles. We suggest the hypothesis that the fathers of twins in the relevant families carry gene variants that increase the probability of dispermy, diplospermy and male pronucleus het

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29

Sözübir, Selami, David Ewalt, William Strand, and Linda A. Baker. "Familial ureteroceles: an evidence for genetic background?" Turkish Journal of Pediatrics 47, no. 3 (2005): 255–60. http://dx.doi.org/10.24953/turkjped.2005.2724.

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In the pediatric population, ureteroceles may present with different clinical pictures, and the severity of the renal damage is greater than in adults. Ureterocele, an anomaly of ureteric budding, is likely a component of a spectrum of anomalies including vesicoureteral reflux and ureteral duplications. Both have been confirmed to have a genetic and familial basis. We document the largest series of familial cases of ureteroceles, giving evidence for genetic background. We retrospectively reviewed the charts of patients with familial ureteroceles seen between 1992 and 2002. Coexisting ureteral

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30

Li, Yan-feng, Ng Hou, U. Iok Sun, and Waii Leong. "Clinical and genetic analysis of three families with familiar amyloid polyneuropathy." Chinese Medical Sciences Journal 23, no. 4 (2008): 230–33. http://dx.doi.org/10.1016/s1001-9294(09)60044-4.

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31

Davey, Angela, Ainsley Newson, and Peter O’Leary. "Communication of Genetic Information within Families: The Case for Familial Comity." Journal of Bioethical Inquiry 3, no. 3 (2006): 161–66. http://dx.doi.org/10.1007/s11673-006-9022-5.

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32

Paisàn-Ruìz, Coro, Amets Sàenz, Adolfo Lòpez de Munain, et al. "Familial Parkinson's disease: Clinical and genetic analysis of four Basque families." Annals of Neurology 57, no. 3 (2005): 365–72. http://dx.doi.org/10.1002/ana.20391.

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33

Lubs, Herbert A., Mark Rabin, Esther Feldman, et al. "Familial dyslexia: genetic and medical findings in eleven three-generation families." Annals of Dyslexia 43, no. 1 (1993): 44–60. http://dx.doi.org/10.1007/bf02928173.

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34

Lucassen, Anneke. "Should families own genetic information? Yes." BMJ 335, no. 7609 (2007): 22. http://dx.doi.org/10.1136/bmj.39252.386030.ad.

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35

Clarke, Angus. "Should families own genetic information? No." BMJ 335, no. 7609 (2007): 23. http://dx.doi.org/10.1136/bmj.39252.392940.ad.

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36

Isobe, N., V. Damotte, V. Lo Re, et al. "Genetic burden in multiple sclerosis families." Genes & Immunity 14, no. 7 (2013): 434–40. http://dx.doi.org/10.1038/gene.2013.37.

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37

REILLY, PHILIP R. "Genetic Information in Families: Rethinking Confidentiality." Microbial & Comparative Genomics 2, no. 1 (1997): 7–17. http://dx.doi.org/10.1089/omi.1.1997.2.7.

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38

Gallo, Agatha M., Denise B. Angst, and Kathleen A. Knafl. "Disclosure of Genetic Information Within Families." AJN, American Journal of Nursing 109, no. 4 (2009): 65–69. http://dx.doi.org/10.1097/01.naj.0000348607.31983.6e.

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Sajid Hussain, M., S. Marriam Bakhtiar, M. Farooq, et al. "Genetic heterogeneity in Pakistani microcephaly families." Clinical Genetics 83, no. 5 (2012): 446–51. http://dx.doi.org/10.1111/j.1399-0004.2012.01932.x.

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40

Maurer, Constance, Olga Boleti, Paria Najarzadeh Torbati, et al. "Genetic Insights from Consanguineous Cardiomyopathy Families." Genes 14, no. 1 (2023): 182. http://dx.doi.org/10.3390/genes14010182.

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Inherited cardiomyopathies are a prevalent cause of heart failure and sudden cardiac death. Both hypertrophic (HCM) and dilated cardiomyopathy (DCM) are genetically heterogeneous and typically present with an autosomal dominant mode of transmission. Whole exome sequencing and autozygosity mapping was carried out in eight un-related probands from consanguineous Middle Eastern families presenting with HCM/DCM followed by bioinformatic and co-segregation analysis to predict the potential pathogenicity of candidate variants. We identified homozygous missense variants in TNNI3K, DSP, and RBCK1 link

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Bauer, Amy, Ranga Ram, Kim M. Schindler, et al. "Identification of Attention-Deficit/Hyperactivity Disorder Pedigrees and Substance Use Disorder Pedigrees Through an ADHD Proband Sample." CNS Spectrums 4, no. 5 (1999): 55–58. http://dx.doi.org/10.1017/s1092852900011731.

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AbstractSubstance use disorder (SUD) pedigrees identified through an attention deficit/hyperactivity disorder (ADHD) proband may be helpful in teasing apart the genetic risks for both ADHD and SUD (ie, alcohol or drug use). Pedigrees segregating for both SUD and ADHD may represent a subset of both of these common disorders that share a related genetic basis. We determined the number of SUD and ADHD pedigrees in a sample of 175 ADHD probands. We found 52 ADHD pedigrees, indicating that at least 29.7% were familial cases. We also found 50 SUD pedigrees; 13 families contained both an alcohol and

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Albesher, Nour, Salam Massadeh, Sabah M. Hassan, and Manal Alaamery. "Consanguinity and Congenital Heart Disease Susceptibility: Insights into Rare Genetic Variations in Saudi Arabia." Genes 13, no. 2 (2022): 354. http://dx.doi.org/10.3390/genes13020354.

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Congenital heart disease (CHD) encompasses a wide range of structural defects of the heart and, in many cases, the factors that predispose an individual to disease are not well understood, highlighting the remarkable complexity of CHD etiology. Evidence of familial aggregation of CHD has been demonstrated in different communities and for different cardiac lesions. Consanguinity, particularly among first cousins, is an added risk factor for these families, particularly in societies where it is considered a common cultural practice, as confirmed in previous studies conducted in Saudi Arabia and

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Hemminki, Kari, Kristina Sundquist, Jan Sundquist, Asta Försti, Akseli Hemminki, and Xinjun Li. "Familial Risks and Proportions Describing Population Landscape of Familial Cancer." Cancers (Basel) 13, no. 17 (2021): 1–21. https://doi.org/10.3390/cancers13174385.

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Background: Familial cancer can be defined through the occurrence of the same cancer in two or more family members. We describe a nationwide landscape of familial cancer, including its frequency and the risk that it conveys, by using the largest family database in the world with complete family structures and medically confirmed cancers. Patients/methods: We employed standardized incidence ratios (SIRs) to estimate familial risks for concordant cancer among first-degree relatives using the Swedish Cancer Registry from years 1958 through 2016. Results: Cancer risks in a 20–84 year old pop

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Bell, Suzannah, Urvi Karamchandani, Kirsten Malcolmson, and Mariya Moosajee. "Acceptability of Telegenetics for Families with Genetic Eye Diseases." Genes 12, no. 2 (2021): 276. http://dx.doi.org/10.3390/genes12020276.

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Healthcare providers around the world have implemented remote routine consultations to minimise disruption during the COVID-19 pandemic. Virtual clinics are particularly suitable for patients with genetic eye diseases as they rely on detailed histories with genetic counselling. During April–June 2019, the opinion of carers of children with inherited eye disorders attending the ocular genetics service at Moorfields Eye Hospital NHS Foundation Trust (MEH) were canvassed. Sixty-five percent of families (n = 35/54) preferred to have investigations carried out locally rather than travel to MEH, wit

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Alda, Martin. "Bipolar Disorder: From Families to Genes." Canadian Journal of Psychiatry 42, no. 4 (1997): 378–87. http://dx.doi.org/10.1177/070674379704200404.

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Background: Genetic factors are known to contribute to the etiology of bipolar illness, but the actual genetic mechanisms remain to be clarified. Methods: This paper reviews the research undertaken to establish the genetic basis of bipolar illness and to elucidate the nature of its genetic predisposition. Results: The presented findings suggest that bipolar affective disorder is a heterogeneous condition characterized by a complex relationship between the genetic susceptibility and the clinical presentation. Linkage studies have generated promising and replicated findings on chromosomes 18 and

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Beckers, Albert, and Adrian F. Daly. "The clinical, pathological, and genetic features of familial isolated pituitary adenomas." European Journal of Endocrinology 157, no. 4 (2007): 371–82. http://dx.doi.org/10.1530/eje-07-0348.

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Pituitary adenomas occur in a familial setting in multiple endocrine neoplasia type 1 (MEN1) and Carney’s complex (CNC), which occur due to mutations in the genes MEN1 and PRKAR1A respectively. Isolated familial somatotropinoma (IFS) is also a well-described clinical syndrome related only to patients with acrogigantism. Pituitary adenomas of all types – not limited to IFS – can occur in a familial setting in the absence of MEN1 and CNC; this phenotype is termed familial isolated pituitary adenomas (FIPA). Over the past 7 years, we have described over 90 FIPA kindreds. In FIPA, both homogeneous

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47

Offit, Kenneth, Kelly Kohut, Bartholt Clagett, et al. "Cancer Genetic Testing and Assisted Reproduction." Journal of Clinical Oncology 24, no. 29 (2006): 4775–82. http://dx.doi.org/10.1200/jco.2006.06.6100.

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Purpose Because of increasing uptake of cancer genetic testing and the improving survival of young patients with cancer, health care practitioners including oncologists will increasingly be asked about options for assisted reproduction by members of families affected by hereditary cancer syndromes. Among these reproductive options, preimplantation genetic diagnosis (PGD) offers the opportunity to select embryos without familial cancer-predisposing mutations. Methods A review of the published literature supplemented by a survey of PGD centers in the United States. Results Prenatal diagnosis and

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Ismagilov, M. F., and D. D. Gainetdinova. "Populationally genetic analysis of neurogenic syncopes." Kazan medical journal 72, no. 6 (1991): 450–53. http://dx.doi.org/10.17816/kazmj83941.

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Populationally genetic analysis of neurogenic syncopes has been performed in 85 families with children and teenagers as probands. It is suggested that neurogenic syncopes may be considered the familial forms of pathology, corresponding to the principal characteristics of multifactorial diseases. Genetic and medium factors, promoting the manifestation of neurogenic syncopes, are distinguished and analyzed.

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Argente, Jesús, Vinicius Brito, Aline Guimaraes, et al. "OR18-2 Clinical, Hormonal and Genetic Characterization of Familial Central Precocious Puberty." Journal of the Endocrine Society 6, Supplement_1 (2022): A617. http://dx.doi.org/10.1210/jendso/bvac150.1279.

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Abstract Context: Familial central precocious puberty (CPP) is a prevalent form (about 27.5%) of precocious puberty. Loss-of-function mutations in two maternally imprinted genes, MKRN3 and DLK1, were identified in families with CPP showing dominant autosomal inheritance with paternal transmission. Maternally transmitted CPP was previously demonstrated in up to 60% of families using pedigree analysis, however, no definitive genetic abnormality has been identified so far. Objectives To estimate the prevalence of familial cases in a multiethnic cohort with CPP. To characterize the genetic basis a

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Sziszkosz, Nikolett, Szilvia Kusza, András Jávor, and Sándor Mihók. "Identification of Hucul mare families by mtDNA markers." Acta Agraria Debreceniensis, no. 57 (March 20, 2014): 75–79. http://dx.doi.org/10.34101/actaagrar/57/1963.

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Hundred animal species have disappeared during the last century. By this time, approximately one-third of domestic animals have been in the endangered category. Hucul horses are also in this category; furthermore saving the genetic diversity beside the race preservation is an important challenge as well. The number of mares and stallions is only one of the expressive elements of genetic diversity; together with their quality determine the genetic variability of this breed. Beyond that, if an exact breed can originates from more founders, it can be more renewed genetically. Stud book documents

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