Vikipediya azad ensiklopediya Yunis Varon sindromuXBT 10 KM Q87 8OMIM 216340DiseasesDB 33830MeSH C536719 Yunis Varon sin

Vikipediya azad ensiklopediya Yunis Varon sindromuXBT 10 KM Q87 8OMIM 216340DiseasesDB 33830MeSH C536719 Yunis Varon sindromu YVS Son derece nadir olan avtosomal resesiv irsiyyetle kecen ve coxsayli sistemleri ehate eden dogusdan gelen sindrom Bu sindrom sumuk sistemi ektodermal toxuma urek ve teneffus sistemine tesir edir Ilk defe Kolumbiya Milli Universiteti nin tedqiqatcilari Emilio Yunis ve Humberto Varon terefinden tesvir edilmisdir Genetika span Bu sindrom avtosomal resesiv olaraq irsen kecir FIG4 genini kodlayan bir nece mutasiya Yunis Varon sindromunun sebebi olaraq tapilmisdir Bu mutasiyalardan bezileri zulal funksiyasinin tamamile itirilmesine digerleri ise yuksek qorunan residu bolgelerinde amin tursusu deyisikliklerine sebeb olur Butun FIG4 mutasiyalari Yunis Varon sindromuna sebeb olmur bezi mutasiyalar Charcot Marie Tooth xesteliyinin muxtelif formalarina Amyotrofik lateral skleroz 11 e ve iki terefli temporo okkipital polimikrogiriyaya sebeb olur Yunis Varon sindromuna tutulan xesteler FIG4 de zererli mutasiyalarin homozigot kompozit homozigot ve ya kompozit heterozigot veziyyetinde olurlar Istinadlar span Kulkarni ML Vani HN Nagendra K Mahesh TK Kumar A Haneef S ve b Yunis Varon syndrome PDF Indian Journal of Pediatrics 73 4 aprel 2006 353 5 doi 10 1007 BF02825832 PMID 16816498 19 avqust 2019 tarixinde orijinalindan PDF arxivlesdirilib Istifade tarixi 22 aprel 2007 Christie J Sacks S Decorato D Bergasa NV Atrophy of the left lobe of the liver and anomalous hepatic vessel in a patient with Yunis Varon syndrome Journal of Clinical Gastroenterology 29 2 sentyabr 1999 210 1 doi 10 1097 00004836 199909000 00025 PMID 10478891 Basel Vanagaite L Kornreich L Schiller O Yacobovich J Merlob P Yunis Varon syndrome further delineation of the phenotype American Journal of Medical Genetics Part A 146A 4 fevral 2008 532 7 doi 10 1002 ajmg a 32135 PMID 18203163 Yunis Varon Syndrome 23 iyun 2016 tarixinde orijinalindan arxivlesdirilib Istifade tarixi 22 aprel 2007 Yunis E Varon H Cleidocranial dysostosis severe micrognathism bilateral absence of thumbs and first metatarsal bone and distal aphalangia a new genetic syndrome Free full text American Journal of Diseases of Children 134 7 iyul 1980 649 53 doi 10 1001 archpedi 1980 02130190017005 PMID 7395825 12 sentyabr 2020 tarixinde arxivlesdirilib Istifade tarixi 12 may 2025 Campeau PM Lenk GM Lu JT Bae Y Burrage L Turnpenny P ve b Yunis Varon syndrome is caused by mutations in FIG4 encoding a phosphoinositide phosphatase American Journal of Human Genetics 92 5 may 2013 781 91 doi 10 1016 j ajhg 2013 03 020 PMC 3644641 PMID 23623387 Lenk Guy M Ferguson Cole J Chow Clement Y Jin Natsuko Jones Julie M Grant Adrienne E Zolov Sergey N Winters Jesse J Giger Roman J Dowling James J Weisman Lois S Pathogenic mechanism of the FIG4 mutation responsible for Charcot Marie Tooth disease CMT4J PLOS Genetics 7 6 iyun 2011 e1002104 doi 10 1371 journal pgen 1002104 ISSN 1553 7404 PMC 3107197 PMID 21655088 Chow Clement Y Landers John E Bergren Sarah K Sapp Peter C Grant Adrienne E Jones Julie M Everett Lesley Lenk Guy M McKenna Yasek Diane M Weisman Lois S Figlewicz Denise Deleterious variants of FIG4 a phosphoinositide phosphatase in patients with ALS American Journal of Human Genetics 84 1 yanvar 2009 85 88 doi 10 1016 j ajhg 2008 12 010 ISSN 1537 6605 PMC 2668033 PMID 19118816 Ouled Amar Ben Cheikh Bouchra Baulac Stephanie Lahjouji Fatiha Bouhouche Ahmed Couarch Philippe Khalili Naima Regragui Wafae Lehericy Stephane Ruberg Merle Benomar Ali Heath Simon A locus for bilateral occipital polymicrogyria maps to chromosome 6q16 q22 Neurogenetics 10 1 29 avqust 2008 35 42 doi 10 1007 s10048 008 0143 3 ISSN 1364 6745 PMID 18758830 Garrett C Berry AC Simpson RH Hall CM Yunis Varon syndrome with severe osteodysplasty Journal of Medical Genetics 27 2 fevral 1990 114 21 doi 10 1136 jmg 27 2 114 PMC 1016932 PMID 2319578 Campeau PM Lenk GM Lu JT Bae Y Burrage L Turnpenny P ve b Yunis Varon syndrome is caused by mutations in FIG4 encoding a phosphoinositide phosphatase American Journal of Human Genetics 92 5 may 2013 781 91 doi 10 1016 j ajhg 2013 03 020 PMC 3644641 PMID 23623387 Corona Rivera JR Romo Huerta CO Lopez Marure E Ramos FJ Estrada Padilla SA Zepeda Romero LC New ocular findings in two sisters with Yunis Varon syndrome and literature review European Journal of Medical Genetics 54 1 yanvar 2011 76 81 doi 10 1016 j ejmg 2010 09 013 PMID 20932945 Dworzak F Mora M Borroni C Cornelio F Blasevich F Cappellini A ve b Generalized lysosomal storage in Yunis Varon syndrome Neuromuscular Disorders 5 5 sentyabr 1995 423 8 doi 10 1016 0960 8966 94 00089 r PMID 7496176 Campeau Philippe M Lenk Guy M Lu James T Bae Yangjin Burrage Lindsay Turnpenny Peter Roman Corona Rivera Jorge Morandi Lucia Mora Marina Reutter Heiko Vulto van Silfhout Anneke T Yunis Varon syndrome is caused by mutations in FIG4 encoding a phosphoinositide phosphatase American Journal of Human Genetics 92 5 2 may 2013 781 791 doi 10 1016 j ajhg 2013 03 020 ISSN 1537 6605 PMC 3644641 PMID 23623387 Corona Rivera J Roman Romo Huerta Carmen O Lopez Marure Eloy Ramos Feliciano J Estrada Padilla Sara A Zepeda Romero Luz Consuelo New ocular findings in two sisters with Yunis Varon syndrome and literature review European Journal of Medical Genetics 54 1 yanvar 2011 76 81 doi 10 1016 j ejmg 2010 09 013 ISSN 1878 0849 PMID 20932945 Xarici kecidler span Normativ yoxlamaMicrosoft 2779949634 Kateqoriya Elifba sirasina gore xestelikler