Relevant bibliographies by topics / Autosomal recessive

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers

Academic literature on the topic 'Autosomal recessive'

Author: Grafiati
Published: 4 June 2021
Last updated: 26 July 2025

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Journal articles on the topic "Autosomal recessive"

1

Mahdi, Awad H. "Autosomal Recessive Osteopetrosis." Annals of Saudi Medicine 14, no. 2 (1994): 102–6. http://dx.doi.org/10.5144/0256-4947.1994.102.

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Altintaş, Ayşegül Koçak, Mehmet Akif Acar, Ilgaz Saĝdiç Yalvaç, Inci Koçak, Ayşe Nurözler, and Sunay Duman. "Autosomal recessive nanophthalmos." Acta Ophthalmologica Scandinavica 75, no. 3 (2009): 325–28. http://dx.doi.org/10.1111/j.1600-0420.1997.tb00788.x.

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Baker, L. R., and T. C. Stamp. "Autosomal recessive hypophosphataemia." Archives of Disease in Childhood 64, no. 8 (1989): 1209. http://dx.doi.org/10.1136/adc.64.8.1209-a.

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AL GAZASLI, L. I., and F. ABOU AL-ASAAD. "Autosomal recessive omodysplasia." Clinical Dysmorphology 4, no. 1 (1995): 52???56. http://dx.doi.org/10.1097/00019605-199501000-00007.

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Soutar, Anne K., and Rossitza P. Naoumova. "Autosomal Recessive Hypercholesterolemia." Seminars in Vascular Medicine 4, no. 03 (2004): 241–48. http://dx.doi.org/10.1055/s-2004-861491.

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Boon, Camiel J. F., L. Ingeborgh van den Born, Linda Visser, et al. "Autosomal Recessive Bestrophinopathy." Ophthalmology 120, no. 4 (2013): 809–20. http://dx.doi.org/10.1016/j.ophtha.2012.09.057.

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Bonifati, Vincenzo. "Autosomal recessive parkinsonism." Parkinsonism & Related Disorders 18 (January 2012): S4—S6. http://dx.doi.org/10.1016/s1353-8020(11)70004-9.

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D’Erasmo, Laura, Ilenia Minicocci, Antonio Nicolucci, et al. "Autosomal Recessive Hypercholesterolemia." Journal of the American College of Cardiology 71, no. 3 (2018): 279–88. http://dx.doi.org/10.1016/j.jacc.2017.11.028.

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Kajii, Tadashi, and Masato Tsukahara. "Autosomal recessive lymphedema?" Japanese Journal of Human Genetics 31, no. 1 (1986): 57. http://dx.doi.org/10.1007/bf01876803.

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D’Erasmo, Laura, Alessia Di Costanzo, and Marcello Arca. "Autosomal recessive hypercholesterolemia." Current Opinion in Lipidology 31, no. 2 (2020): 56–61. http://dx.doi.org/10.1097/mol.0000000000000664.

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Dissertations / Theses on the topic "Autosomal recessive"

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Christodoulou, Kyproula. "Molecular genetics of autosomal recessive spinocerebellar ataxias." Thesis, University of London, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.244268.

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Nommiste, B. "A model system of autosomal-recessive bestrophinopathy." Thesis, University College London (University of London), 2016. http://discovery.ucl.ac.uk/1476812/.

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Mutations in the bestrophin 1 (BEST1) gene lead to a variety of bestrophinopathies. To identify the exact location and function of BEST1 is key to understanding the mechanisms that cause bestrophinopathies. Thus, it was decided to study autosomal-recessive bestrophinopathy (ARB), a distinct inherited bestrophinopathy caused by BEST1, a protein located in the retinal pigment epithelium (RPE), which is a monolayer of epithelial cells located at the back of the eye between the photosensitive retinal layer and the choroid. The RPE closely interacts with the photoreceptor layer. Hence, mutations in
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Virolainen, Elina. "Molecular genetics of autosomal recessive congenital ichthyosis." Helsinki : University of Helsinki, 2000. http://ethesis.helsinki.fi/julkaisut/laa/kliin/vk/virolainen/.

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El-Aziz, El-Anwar Saad Mai Mohamed Abd. "Molecular genetics of autosomal recessive retinitis pigmentosa." Thesis, University College London (University of London), 2007. http://discovery.ucl.ac.uk/1446073/.

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Autosomal recessive retinitis pigmentosa (arRP) is one of the commonest forms of monogenic retinal degeneration (RD). To date, 24 loci have been implicated in the pathogenesis of arRP. The genes for five of these loci (RP22, RP25, RP28, RP29 and RP32), still remain to be identified. This thesis mainly focused on the cloning of a major gene (RP25) however identifying novel loci for recessive RP constituted a significant objective. Originally the RP25 locus was mapped to chromosome 6pl2.1-ql5, a region that spans 34 Mb, by our collaborators in Seville in seven Spanish families. Initially, a whol
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Kurian, Manju Ann. "Molecular genetic investigation of autosomal recessive neurodevelopmental disorders." Thesis, University of Birmingham, 2010. http://etheses.bham.ac.uk//id/eprint/1126/.

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Development of the human brain occurs in a number of complex pre- and postnatal stages which are governed by both genetic and environmental factors. Aberrant brain development due to inherited defects may result in a wide spectrum of neurological disorders which are commonly encountered in the clinical field of paediatric neurology. In the work for this thesis, I have investigated the molecular basis and defined the clinical features of three autosomal recessive neurological syndromes. I studied a cohort of children with early onset epileptic encephalopathy and, in one family, identified a nov
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Alsaedi, Atif Saud. "Exome sequencing analysis of rare autosomal recessive disorders." Thesis, University of Birmingham, 2017. http://etheses.bham.ac.uk//id/eprint/7700/.

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Since the human genome project was completed in 2003, extraordinary progress has been made in the field of genomics with the development of new sequencing technologies and the widespread introduction of next generation sequencing (NGS). The application of NGS initiated a new era in genomics by massively increasing the number and diversity of the sequenced genomes at lower cost. Human Molecular Genetics has greatly benefited from the use of NGS-based strategies to identify human disease genes. In this thesis, I investigated the application of genetic techniques to investigate the molecular basi
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Talbot, Kevin. "The molecular pathogenesis of autosomal recessive spinal muscular atrophy." Thesis, University of Oxford, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.300137.

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Sergouniotis, P. I. "Genetic and phenotypic heterogeneity in autosomal recessive retinal disease." Thesis, University College London (University of London), 2012. http://discovery.ucl.ac.uk/1352445/.

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Molecular genetics has transformed our understanding of disease and is gradually changing the way medicine is practiced. Genetic mapping provides a powerful approach to discover genes and biological processes underlying human disorders. Recent advances in DNA microarray and sequencing technology have significantly increased the power of genetic mapping studies and have ushered in a new era for biomedicine. In this thesis, linkage analysis (including homozygosity mapping), exome sequencing and candidate gene sequencing have been utilised to genetically dissect autosomal recessive retinal diseas
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De, Vos Michel. "Genetic and epigenetic studies of autosomal recessive predisposition to neoplasia." Thesis, University of Leeds, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.485772.

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The availability of comprehensive genetic and structural data on the human genome, far from signalling the end of the era of human genetics, has greatly increased the power of genetic approaches to biological and pathological questions. For autosomal recessive . disorders, homozygosity mapping has proved to be a powerful method for gene mapping and identification. In this thesis, linkage and molecular studies are described of two distinct disorders offamilial cancer predisposition. .' Through homo,zygosity mapping of rare cases ofAsian origin, an attempt has been made to refine the localisatio
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Wood, Shaun Roger. "Development of AAV-mediated gene therapy for autosomal recessive bestrophinopathy." Thesis, University of Oxford, 2017. https://ora.ox.ac.uk/objects/uuid:e0925bc0-8f36-4a76-9366-bc7dc316c5af.

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The bestrophinopathies are a set of inherited retinal degenerations caused by mutations in BEST1, and include Best vitelliform macular dystrophy (BVMD), autosomal dominant vitreoretinochoroidopathy (ADVIRC) and autosomal recessive bestrophinopathy (ARB). The corresponding protein, bestrophin-1, is localised to the basolateral membrane of the retinal pigment epithelium (RPE), where it is thought to function as a Ca<sup>2+</sup>-activated Cl- channel. Currently, there are no treatments for these conditions. In recent years, gene therapy has emerged as an exciting treatment option for inherited r
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Books on the topic "Autosomal recessive"

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McKusick, Victor A. Mendelian inheritance in man: Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes. 9th ed. Johns Hopkins University Press, 1990.

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A, Francomano Clair, and Antonarakis Stylianos E, eds. Mendelian inheritance in man: Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes. Johns Hopkins University Press, 1992.

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Pohl, Esther. Molecular pathogenesis of selected autosomal recessively inherited disorders: From gene to function. s.n.], 2013.

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Autosomal Recessive Pedigree Workbook. Independently Published, 2020.

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Bergmann, Carsten, and Klaus Zerres. Autosomal recessive polycystic kidney disease. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0313.

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Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood renal- and liver-related morbidity and mortality with variable disease expression. Many patients manifest peri- or neonatally with a mortality rate of 30–50%, whereas others survive to adulthood with only minor clinical features. ARPKD is typically caused by mutations in the PKHD1 gene that encodes a 4074-amino acid type 1 single-pass transmembrane protein called fibrocystin or polyductin. Fibrocystin/polyductin is among other cystoproteins expressed in primary cilia, basal bodies, and centrosomes, but its
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Mendelian inheritance in man: Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes. 8th ed. Johns Hopkins University Press, 1988.

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McKusick, Victor A. Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes. Elsevier Science & Technology Books, 2014.

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Mendelian inheritance in man: Catalogs of autosomal dominant, autosomal recessive, and x-linked phenotypes. 7th ed. Johns Hopkins University Press, 1986.

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Shakkottai, Vikram G. Ataxias. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0014.

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Autosomal recessive cerebellar ataxias are a group of inherited neurological disorders with progressive balance and gait difficulties. In these disorders, cerebellar ataxia is often accompanied by eye movement abnormalities and peripheral nervous system involvement. A unifying mechanism for disease pathogenesis that is common to all the recessive ataxias likely does not exist. Nevertheless, some pathophysiological pathways are common to several autosomal recessive cerebellar ataxias. Specific gene defects in each disorder are summarized in the chapter. The most common recessively inherited ata
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Hand, Collette K. Localisation of the gene for autosomal recessive congenital hereditary endothelial dystrophy. 1998.

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Book chapters on the topic "Autosomal recessive"

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Ng, Matthew, and Drew M. Horlbeck. "Autosomal Recessive." In Encyclopedia of Otolaryngology, Head and Neck Surgery. Springer Berlin Heidelberg, 2013. http://dx.doi.org/10.1007/978-3-642-23499-6_200018.

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Beaudin, Marie, and Nicolas Dupré. "Autosomal Recessive Ataxias." In Essentials of Cerebellum and Cerebellar Disorders. Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-24551-5_73.

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Beaudin, Marie, Ikhlass Haj Salem, and Nicolas Dupré. "Autosomal Recessive Ataxias." In Essentials of Cerebellum and Cerebellar Disorders. Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-031-15070-8_83.

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Braun-Falco, Markus, Henry J. Mankin, Sharon L. Wenger, et al. "Pseudohypoaldosteronism, Autosomal Recessive." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_3394.

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Scharnagl, Hubert, Winfried März, Markus Böhm, et al. "Autosomal Recessive Pseudohypoaldosteronism." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_8069.

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Braun-Falco, Markus, Henry J. Mankin, Sharon L. Wenger, et al. "Plectin Autosomal Recessive." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_8436.

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Scharnagl, Hubert, Winfried März, Markus Böhm, et al. "Autosomal Recessive Pseudohypoaldosteronism." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_9064.

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Noreau, Anne, Nicolas Dupré, Jean-Pierre Bouchard, Patrick A. Dion, and Guy A. Rouleau. "Autosomal Recessive Cerebellar Ataxias." In Handbook of the Cerebellum and Cerebellar Disorders. Springer Netherlands, 2013. http://dx.doi.org/10.1007/978-94-007-1333-8_100.

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Haj Salem, Ikhlass, Anne Noreau, Jean-Pierre Bouchard, Patrick A. Dion, Guy A. Rouleau, and Nicolas Dupré. "Autosomal Recessive Cerebellar Ataxias." In Handbook of the Cerebellum and Cerebellar Disorders. Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-319-97911-3_100-2.

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Haj Salem, Ikhlass, Anne Noreau, Jean-Pierre Bouchard, Patrick A. Dion, Guy A. Rouleau, and Nicolas Dupré. "Autosomal Recessive Cerebellar Ataxias." In Handbook of the Cerebellum and Cerebellar Disorders. Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-23810-0_100.

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Conference papers on the topic "Autosomal recessive"

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Ferih, Khaled Ramadan, Ahmed Adel Elsabagh, Sami Ismail Zaqout, and Angelika Krajewski. "Proteome changes in autosomal recessive primary microcephaly." In Qatar University Annual Research Forum & Exhibition. Qatar University Press, 2021. http://dx.doi.org/10.29117/quarfe.2021.0147.

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Autosomal recessive primary microcephaly (MCPH) consists of a group of disorders characterized by microcephaly and intellectual disability. This study is essential to complement previous findings of MCPH as it helps clarify the role of different genes and proteins involved in the underlying pathophysiology of MCPH. To date, 27 different mutations have been identified. This study defines a number of changes in gene expression occurring in MCPH. This helps deepen our understanding of the effect of MCPH mutations on gene expression. This study also shows the functions of proteins that increase, a
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Kambouris, Marios, Yasser Al-sarraj, Hibah Shaath, et al. "A Mutation In MYO1A Causes Autosomal Recessive Autism Spectrum Disease." In Qatar Foundation Annual Research Conference Proceedings. Hamad bin Khalifa University Press (HBKU Press), 2014. http://dx.doi.org/10.5339/qfarc.2014.hbpp0434.

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Fonseca, Alulin Tácio Quadros Santos Monteiro. "Genetic profiling of RYR1- related myopathy in a tertiary neuromuscular center." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.518.

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Introduction: The RYR1 gene encodes the skeletal muscle ryanodine channel, an ion channel responsible for regulating calcium release from the sarcoplasmic reticulum. Variants in RYR1 are cause of a wide phenotype of myopathies, with autosomal dominant and recessive inheritance. Objectives: In this work we present the clinical and genetic data of 43 patients with myopathies presumably related to the RYR1 gene, carrying 47 different variants Material and methods: Clinical and genetic data are presented. RYR1 gene were analyzed by next-generation sequencing. Results: Twenty patients have an autos
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Massuyama, Breno Kazuo, Maria Thereza Drumond Gama, Thiago Yoshinaga Tonholo Silva, Pedro Braga-Neto, José Luiz Pedroso, and Orlando Graziani Povoas Barsottini. "Ataxia unit of the Federal University of São Paulo: 16 years of experience and a description of frequency and etiology." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.662.

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Introduction: Cerebellar ataxias are a heterogeneous group of diseases comprising genetic and non-genetic etiologies. Sporadic ataxias are a group of neurological disorders with no family history for ataxia or its related symptoms and signs. Hereditary cerebellar ataxias and hereditary spastic paraplegias (HSP) are rare genetic neurodegenerative disorders with considerable clinical overlap. Objectives: To report a descriptive analysis of the frequency of different forms of cerebellar ataxias evaluated over 16 years in the Ataxia Unit, Federal University of São Paulo, Brazil. Methods: We review
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Haegerstrom-Portnoy, G., N. Friedman, A. J. Adams, M. Schneck, and S. Hewlett. "Vision Function of Rod Monochromats: I. Advanced Clinical Measures." In Noninvasive Assessment of the Visual System. Optica Publishing Group, 1988. http://dx.doi.org/10.1364/navs.1988.tua4.

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Achromatopsia -- the absence of color vision -- is a relatively rare condition which can result from a variety of congenital and acquired ocular disorders. The most common form of achromatopsia is complete (typical) rod monochromatism, which is inherited as an autosomal recessive trait and is characterized by severely reduced visual acuity, pendular nystagmus and photophobia. X-linked recessive incomplete (blue cone) monochromatism, in which the patient has both rod and blue cone function, has a very similar presentation clinically, and is often confused with complete rod monochromatism. Less
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Plank, Roswitha, Katja Obst, Guy Yealland, et al. "Nanogel-Mediated Protein Replacement Therapy for Autosomal Recessive Congenital Ichthyosis (ARCI)." In The World Congress on Recent Advances in Nanotechnology. Avestia Publishing, 2016. http://dx.doi.org/10.11159/nddte16.105.

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Root, Heather B., Meral Gunay-Aygun, and Kenneth N. Olivier. "Screening For Respiratory Ciliary Dysfunction In Autosomal Recessive Polycystic Kidney Disease." In American Thoracic Society 2011 International Conference, May 13-18, 2011 • Denver Colorado. American Thoracic Society, 2011. http://dx.doi.org/10.1164/ajrccm-conference.2011.183.1_meetingabstracts.a6346.

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Wallmeier, J., D. Bracht, H. S. Alsaif, et al. "Autosomal recessive mutations in TP73 cause a mucociliary clearance disorder and lissencphaly." In ERS International Congress 2022 abstracts. European Respiratory Society, 2022. http://dx.doi.org/10.1183/13993003.congress-2022.4091.

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Fonseca, Abner Lourenço da. "Hermansky-Pudlak syndrome." In II INTERNATIONAL SEVEN MULTIDISCIPLINARY CONGRESS. Seven Congress, 2023. http://dx.doi.org/10.56238/homeinternationalanais-011.

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Abstract Hermansky-Pudlak syndrome (HPS) is considered an uncommon pathology, and this is autosomal recessive and with its first report dated 1959. Although rare, it is relatively common in Puerto Rico, where its prevalence reaches approximately 1 in 1,800 people on the island, representing approximately 50% of all cases worldwide. The worldwide prevalence is close to 1 in 500,000 to 1,000,000 in non-Puerto Rican individuals.
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Chini, Vasiliki, Yasser Al Sarraj, Michael Trese, Hatem El Shanti, and Marios Kambouris. "A Novel Homozygous Lrp5 Splice-site Deletion Mutation Causes Syndromic Autosomal Recessive Familial Exudative Vitreoretinopathy." In Qatar Foundation Annual Research Conference Proceedings. Hamad bin Khalifa University Press (HBKU Press), 2014. http://dx.doi.org/10.5339/qfarc.2014.hbpp0727.

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