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Autosomal recessive traits

Identification of homozygous missense variant in SIX5 gene underlying recessive nonsyndromic hearing impairment

Mohib Ullah Kakar, Muhammad Akram, Muhammad Zubair Mehboob, Muhammad Younus, Muhammad Bilal, Ahmed Waqas, Amina Nazir, Muhammad Shafi, Muhammad Umair, Sajjad Ahmad, Misbahuddin M. Rafeeq

published 16 Jun 2022

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Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis—Like Autosomal Recessive Congenital Ichthyosis

Cherine Charfeddine, Nadia Laroussi, Rahma Mkaouar, Raja Jouini, Olfa Khayat, Aladin Redissi, Amor Mosbah, Hamza Dallali, Achraf Chedly Debbiche, Anissa Zaouak, Sami Fenniche, Sonia Abdelhak, Houda Hammami-Ghorbel

published 20 Oct 2021

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Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family

Xiaodong Jiao, Shahid Y. Khan, Haiba Kaul, Tariq Butt, Muhammad Asif Naeem, Sheikh Riazuddin, J. Fielding Hejtmancik, S. Amer Riazuddin

published 09 Dec 2019

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Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability

Megan McSherry, Katherine E. Masih, Nursel H. Elcioglu, Pelin Celik, Ozge Balci, Filiz Basak Cengiz, Daniella Nunez, Claire J. Sineni, Serhat Seyhan, Defne Kocaoglu, Shengru Guo, Duygu Duman, Guney Bademci, Mustafa Tekin

published 30 Nov 2018

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Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss

Amina Bakhchane, Majida Charif, Amale Bousfiha, Redouane Boulouiz, Halima Nahili, Hassan Rouba, Hicham Charoute, Guy Lenaers, Abdelhamid Barakat

published 04 May 2017

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Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia

Zafar Iqbal, Siri L. Rydning, Iselin M. Wedding, Jeanette Koht, Lasse Pihlstrøm, Aina H. Rengmark, Sandra P. Henriksen, Chantal M. E. Tallaksen, Mathias Toft

published 31 Mar 2017

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Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts

Bushra Irum, Shahid Y. Khan, Muhammad Ali, Haiba Kaul, Firoz Kabir, Bushra Rauf, Fareeha Fatima, Raheela Nadeem, Arif O. Khan, Saif Al Obaisi, Muhammad Asif Naeem, Idrees A. Nasir, Shaheen N. Khan, Tayyab Husnain, Sheikh Riazuddin, Javed Akram, Allen O. Eghrari, S. Amer Riazuddin

published 04 Nov 2016

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A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts

Xiaodong Jiao, Firoz Kabir, Bushra Irum, Arif O. Khan, Qiwei Wang, David Li, Asma A. Khan, Tayyab Husnain, Javed Akram, Sheikh Riazuddin, J. Fielding Hejtmancik, S. Amer Riazuddin

published 21 Jun 2016

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Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss

Tahir Atik, Huseyin Onay, Ayca Aykut, Guney Bademci, Tayfun Kirazli, Mustafa Tekin, Ferda Ozkinay

published 11 Nov 2015

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Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts

Xiaodong Jiaox, Shahid Y. Khan, Bushra Irum, Arif O. Khan, Qiwei Wang, Firoz Kabir, Asma A. Khan, Tayyab Husnain, Javed Akram, Sheikh Riazuddin, J. Fielding Hejtmancik, S. Amer Riazuddin

published 24 Sep 2015

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The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families

Behzad Davarniya, Hao Hu, Kimia Kahrizi, Luciana Musante, Zohreh Fattahi, Masoumeh Hosseini, Fariba Maqsoud, Reza Farajollahi, Thomas F. Wienker, H. Hilger Ropers, Hossein Najmabadi

published 26 Aug 2015

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Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family

Xue Gao, Yu Su, Yu-Lan Chen, Ming-Yu Han, Yong-Yi Yuan, Jin-Cao Xu, Feng Xin, Mei-Guang Zhang, Sha-Sha Huang, Guo-Jian Wang, Dong-Yang Kang, Li-Ping Guan, Jian-Guo Zhang, Pu Dai

published 28 Apr 2015

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Diagnostics of Primary Immunodeficiency Diseases: A Sequencing Capture Approach

Lotte N. Moens, Elin Falk-Sörqvist, A. Charlotta Asplund, Ewa Bernatowska, C. I. Edvard Smith, Mats Nilsson

published 11 Dec 2014

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