Genetics and genomic medicine in Saudi Arabia

被引：66

作者：

Alkuraya, Fowzan S. ^{[1
,2
]}

机构：

[1] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh, Saudi Arabia

[2] Alfaisal Univ, Coll Med, Dept Anat & Cell Biol, Riyadh, Saudi Arabia

来源：

MOLECULAR GENETICS & GENOMIC MEDICINE | 2014年 / 2卷 / 05期

关键词：

D O I：

10.1002/mgg3.97

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：369 / 378

页数：10

共 85 条

[21] Allelic Heterogeneity in Inbred Populations: The Saudi Experience With Alstrom Syndrome as an Illustrative Example [J].

Aldahmesh, Mohamed A. ;

Abu-Safieh, Leen ;

Khan, Arif O. ;

Al-Hassnan, Zuhair N. ;

Shaheen, Ranad ;

Rajab, Mohammed ;

Monies, Dorota ;

Meyer, Brian F. ;

Alkuraya, Fowzan S. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (04) :662-665

[22] IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome [J].

Aldahmesh, Mohammed A. ;

Li, Yuanyuan ;

Alhashem, Amal ;

Anazi, Shams ;

Alkuraya, Hisham ;

Hashem, Mais ;

Awaji, Ali A. ;

Sogaty, Sameera ;

Alkharashi, Abdullah ;

Alzahrani, Saeed ;

Al Hazzaa, Selwa A. ;

Xiong, Yong ;

Kong, Shanshan ;

Sun, Zhaoxia ;

Alkuraya, Fowzan S. .

HUMAN MOLECULAR GENETICS, 2014, 23 (12) :3307-3315

[23] Mutations in LRPAP1 Are Associated with Severe Myopia in Humans [J].

Aldahmesh, Mohammed A. ;

Khan, Arif O. ;

Alkuraya, Hisham ;

Adly, Nouran ;

Anazi, Shamsa ;

Al-Saleh, Ahmed A. ;

Mohamed, Jawahir Y. ;

Hijazi, Hadia ;

Prabakaran, Sarita ;

Tacke, Marlene ;

Al-Khrashi, Abdullah ;

Hashem, Mais ;

Reinheckel, Thomas ;

Assiri, Abdullah ;

Alkuraya, Fowzan S. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2013, 93 (02) :313-320

[24] The Syndrome of Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus (MMCAT) Is Caused by Mutations in ADAMTS18 [J].

Aldahmesh, Mohammed A. ;

Alshammari, Muneera J. ;

Khan, Arif O. ;

Mohamed, Jawahir Y. ;

Alhabib, Fatimah A. ;

Alkuraya, Fowzan S. .

HUMAN MUTATION, 2013, 34 (09) :1195-1199

[25] Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes [J].

Aldahmesh, Mohammed A. ;

Khan, Arif O. ;

Mohamed, Jawahir Y. ;

Hijazi, Hadia ;

Al-Owain, Mohammed ;

Alswaid, Abdulrahman ;

Alkuraya, Fowzan S. .

GENETICS IN MEDICINE, 2012, 14 (12) :955-962

[26] Homozygous null mutation in ODZ3 causes microphthalmia in humans [J].

Aldahmesh, Mohammed A. ;

Mohammed, Jawahir Y. ;

Al-Hazzaa, Selwa ;

Alkuraya, Fowzan S. .

GENETICS IN MEDICINE, 2012, 14 (11) :900-904

[27] Identification of a Truncation Mutation of Acylglycerol Kinase (AGK) Gene in a Novel Autosomal Recessive Cataract Locus [J].

Aldahmesh, Mohammed A. ;

Khan, Arif O. ;

Mohamed, Jawahir Y. ;

Alghamdi, Mohammed H. ;

Alkuraya, Fowzan S. .

HUMAN MUTATION, 2012, 33 (06) :960-962

[28] Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia [J].

Aldahmesh, Mohammed A. ;

Mohamed, Jawahir Y. ;

Alkuraya, Hisham S. ;

Verma, Ishwar C. ;

Puri, Ratna D. ;

Alaiya, Ayodele A. ;

Rizzo, William B. ;

Alkuraya, Fowzan S. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2011, 89 (06) :745-750

[29] Novel recessive BFSP2 and PITX3 mutations: Insights into mutational mechanisms from consanguineous populations [J].

Aldahmesh, Mohammed A. ;

Khan, Arif O. ;

Mohamed, Jawahir ;

Alkuraya, Fowzan S. .

GENETICS IN MEDICINE, 2011, 13 (11) :978-981

[30] Premarital screening for thalassemia and sickle cell disease in Saudi Arabia [J].

AlHamdan, Nasser AbdulRahman ;

AlMazrou, Yagob Yousaf ;

AlSwaldi, Fahad Mohammad ;

Choudhry, Abdul Jamil .

GENETICS IN MEDICINE, 2007, 9 (06) :372-377

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