Search Results - "Consanguinity"

Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin-Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing by Guanting Lu, Qiongling Peng, Lianying Wu, Jian Zhang, Liya Ma

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Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report by Xianghong Li, Liangshan Li, Yaqi Sun, Fuyan Lv, Guoqing Zhang, Wenmiao Liu, Meiyan Zhang, Hong Jiang, Shiguo Liu

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Women's worries about prenatal screening tests suspected of fetal anomalies: a qualitative study by Seyyedeh Mahboubeh Mirtabar, Zeynab Pahlavan, Sajedeh Aligoltabar, Shahnaz Barat, Fatemeh Nasiri-Amiri, Maryam Nikpour, Fereshteh Behmanesh, Sina Taheri, Khadijeh Nasri, Mahbobeh Faramarzi

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A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1 by Bibi Hajra, Abdullah, Nousheen Bibi, Fibhaa Syed, Asmat Ullah, Wasim Ahmad, Umm-

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Cleft lip and palate and related factors: A 10 years study in university hospitalised patients at Mashhad - Iran by Morteza Noorollahian, Mohsen Nematy, Atiyeh Dolatian, Hengameh Ghesmati, Saeed Akhlaghi, Gholam Reza Khademi

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Birth prevalence of neural tube defects and associated risk factors in Africa: a systematic review and meta-analysis by Mohammed Oumer, Ashenafi Tazebew, Mezgebu Silamsaw

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In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Scr... by Marcela Vela-Amieva, Miguel Angel Alcántara-Ortigoza, Ariadna González-del Angel, Isabel Ibarra-González, Liliana Fernández-Hernández, Sara Guillén-López, Lizbeth López-Mejía, Cynthia Fernández-Lainez

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VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype by Chiara Begliuomini, Giorgio Magli, Maja Di Rocco, Filippo M. Santorelli, Denise Cassandrini, Claudia Nesti, Federica Deodato, Daria Diodato, Susanna Casellato, Delia M. Simula, Veronica Dessì, Anna Eusebi, Alessandra Carta, Stefano Sotgiu

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46,XY Sex Development Defect due to a Novel Homozygous (Splice Site) c.673_1G>C Variation in the HSD17B3 Gene: Case Report by Nurdan Çiftci, Leman Kayaş, Emine Çamtosun, Ayşehan Akıncı

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Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations by Dehghan Manshadi M, Kamalidehghan B, Aryani O, Khalili E, Dadgar S, Tondar M, Ahmadipour F, Yong Meng G, Houshmand M

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Prenatal diagnosis of Noonan syndrome in a set of monozygotic twins- a case report by Wei Jian, Huizhen Yuan, Yu Liu, Jimei Sun, Fei Chen, Yufan Li, Min Chen

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss by Guangxian Yang, Yi Yin, Zhiping Tan, Jian Liu, Xicheng Deng, Yifeng Yang

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The perception of genetic diseases and premarital screening tests in the central region of Saudi Arabia by Mariam M. Al Eissa, Fahad Almsned, Reem R. Alkharji, Yousif M. Aldossary, Raghad AlQurashi, Esraa A. Hawsa, Sahar M. AlDosari, Amerh S. Alqahtani, Raniah S. Alotibi, Raed Farzan, Reema Alduaiji, Suha M. Sulimani, Shaker A. Alomary, Abdullah M. Assiri

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Identification of a Novel Frameshift variant of the ATRX gene: a Case Report and Review of the genotype-phenotype relationship by Yishan Wang, Qizhou Ma, Jing Chen, Shaoxin Li, Feifei Zheng, Lei Shi, Xiaoshun Li, Sinan Li, Guanglei Tong, Hong Li

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Two Novel Mutations (c.883-4_890del and c.1684C>G) of WDR62 Gene Associated With Autosomal Recessive Primary Microcephaly: A Case Report by You Gyoung Yi, You Gyoung Yi, Dong-Woo Lee, Jaewon Kim, Ja-Hyun Jang, Ja-Hyun Jang, Sae-Mi Lee, Sae-Mi Lee, Dae-Hyun Jang

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Coexistence of mutations of Gilbert's syndrome and Crigler-Najjar syndrome in an infant with unconjugated hyperbilirubinemia-a case report by Ramya Srinivasa Rangan, Shagun Shah, C. T. Deshmukh

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Evaluation of the Genetically Diagnosed Mitochondrial Disease Cases with Neuromuscular Involvement by Çağatay Günay, Cem Paketçi, Pınar Edem, Gamze Sarıkaya Uzan, Ayşe Semra Hız Kurul, Zümrüt Arslan Gülten, Pelin Teke Kısa, Nur Arslan, Uluç Yıs

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Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report by Hairong Wang, Yang Wan, Yun Yang, Hao Li, Liangwei Mao, Shuyang Gao, Jingjing Xu, Jing Wang

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Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature by Hanan AlQudairy, Hesham AlDhalaan, Sarah AlRuways, Sarah AlRuways, Nouf AlMutairi, Nouf AlMutairi, Maha AlNakiyah, Maha AlNakiyah, Reema AlGhofaili, Reema AlGhofaili, Albandary AlBakheet, Adeeb Alomrani, Omar A. Alharbi, Ehab Tous, Moeen AlSayed, Hamad AlZaidan, Maha M. AlRasheed, Maha M. AlRasheed, Ali AlOdaib, Namik Kaya

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L'argument de la filiation : Aux fondements des sociétés européennes et méditerranéennes by Jérôme Wilgaux

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