标题
Genetics and genomic medicine in Saudi Arabia
作者
关键词
-
出版物
Molecular Genetics & Genomic Medicine
Volume 2, Issue 5, Pages 369-378
出版商
Wiley
发表日期
2014-09-05
DOI
10.1002/mgg3.97
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Is consanguinity prevalence decreasing in Saudis?: A study in two generations
- (2014) AS Warsy et al. African Health Sciences
- Neu-Laxova Syndrome, an Inborn Error of Serine Metabolism, Is Caused by Mutations in PHGDH
- (2014) Ranad Shaheen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Genomic analysis of primordial dwarfism reveals novel disease genes
- (2014) R. Shaheen et al. GENOME RESEARCH
- METTL23, a transcriptional partner of GABPA, is essential for human cognition
- (2014) Rachel E. Reiff et al. HUMAN MOLECULAR GENETICS
- IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome
- (2014) M. A. Aldahmesh et al. HUMAN MOLECULAR GENETICS
- NECAP1 loss of function leads to a severe infantile epileptic encephalopathy
- (2014) Anas M Alazami et al. JOURNAL OF MEDICAL GENETICS
- A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused byKCNJ11mutation
- (2014) Mamdouh Albaqumi et al. JOURNAL OF MEDICAL GENETICS
- Global, regional, and national levels and causes of maternal mortality during 1990–2013: a systematic analysis for the Global Burden of Disease Study 2013
- (2014) Nicholas J Kassebaum et al. LANCET
- Global, regional, and national levels of neonatal, infant, and under-5 mortality during 1990–2013: a systematic analysis for the Global Burden of Disease Study 2013
- (2014) Haidong Wang et al. LANCET
- A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes
- (2014) Ida Moltke et al. NATURE
- SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3
- (2014) A. M. Alazami et al. NEUROLOGY
- The Hunt for Missing Genes
- (2014) J. Kaiser SCIENCE
- Mutations in C12orf57 Cause a Syndromic Form of Colobomatous Microphthalmia
- (2013) Fatema Zahrani et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in DDX59 Implicate RNA Helicase in the Pathogenesis of Orofaciodigital Syndrome
- (2013) Hanan E. Shamseldin et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy
- (2013) Xiaowu Gai et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in LRPAP1 Are Associated with Severe Myopia in Humans
- (2013) Mohammed A. Aldahmesh et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in MEOX1, Encoding Mesenchyme Homeobox 1, Cause Klippel-Feil Anomaly
- (2013) Jawahir Y. Mohamed et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
- (2013) Vandana A. Gupta et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome
- (2013) Ranad Shaheen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in CSPP1, Encoding a Core Centrosomal Protein, Cause a Range of Ciliopathy Phenotypes in Humans
- (2013) Ranad Shaheen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- MYSM1 is mutated in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK- and B-cell counts
- (2013) A. Alsultan et al. BLOOD
- ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies
- (2013) Emma A. Webb et al. BRAIN
- Pellagra-like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit
- (2013) H. Hijazi et al. CLINICAL GENETICS
- Impact of new genomic tools on the practice of clinical genetics in consanguineous populations: the Saudi experience
- (2013) FS Alkuraya CLINICAL GENETICS
- The application of next-generation sequencing in the autozygosity mapping of human recessive diseases
- (2013) Fowzan S. Alkuraya HUMAN GENETICS
- Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis
- (2013) Salma Awad et al. HUMAN MOLECULAR GENETICS
- Ciliary GenesTBC1D32/C6orf170andSCLT1are Mutated in Patients with OFD Type IX
- (2013) Nouran Adly et al. HUMAN MUTATION
- The Syndrome of Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus (MMCAT) Is Caused by Mutations inADAMTS18
- (2013) Mohammed A. Aldahmesh et al. HUMAN MUTATION
- A Novel Homozygous Mutation in G6PC3 Presenting as Cyclic Neutropenia and Severe Congenital Neutropenia in the Same Family
- (2013) Abdullah A. Alangari et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Mutations inTMEM231cause Meckel–Gruber syndrome
- (2013) Ranad Shaheen et al. JOURNAL OF MEDICAL GENETICS
- A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency
- (2013) Ranad Shaheen et al. JOURNAL OF MEDICAL GENETICS
- WNT1 mutation with recessive osteogenesis imperfecta and profound neurological phenotype
- (2013) Eissa Faqeih et al. JOURNAL OF MEDICAL GENETICS
- Genome-wide association study of chronic hepatitis B virus infection reveals a novel candidate risk allele on 11q22.3
- (2013) Ahmed Al-Qahtani et al. JOURNAL OF MEDICAL GENETICS
- Mutation inADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus
- (2013) Anas M Alazami et al. JOURNAL OF MEDICAL GENETICS
- POC1A Truncation Mutation Causes a Ciliopathy in Humans Characterized by Primordial Dwarfism
- (2012) Ranad Shaheen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Map of autosomal recessive genetic disorders in Saudi Arabia: Concepts and future directions
- (2012) Mohammed Al-Owain et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- A novel syndrome of lethal familial hyperekplexia associated with brain malformation
- (2012) Mohammed Zein Seidahmed et al. BMC Neurology
- Homozygous truncation of SIX6 causes complex microphthalmia in humans
- (2012) M A Aldahmesh et al. CLINICAL GENETICS
- Genomic analysis of Meckel–Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes
- (2012) Ranad Shaheen et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Identification of MRI1, encoding translation initiation factor eIF-2B subunit alpha/beta/delta-like protein, as a candidate locus for infantile epilepsy with severe cystic degeneration of the brain
- (2012) Asma Sunker et al. GENE
- Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity
- (2012) Hanif G. Khalak et al. GENETICS IN MEDICINE
- Homozygous null mutation in ODZ3 causes microphthalmia in humans
- (2012) Mohammed A. Aldahmesh et al. GENETICS IN MEDICINE
- Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes
- (2012) Mohammed A Aldahmesh et al. GENETICS IN MEDICINE
- Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes
- (2012) L. Abu-Safieh et al. GENOME RESEARCH
- Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism
- (2012) Anas M. Alazami et al. HUMAN MUTATION
- Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus
- (2012) Mohammed A. Aldahmesh et al. HUMAN MUTATION
- LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency
- (2012) Abdullah Alangari et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Mutation inRAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve–Melchior–Clausen locus
- (2012) Muneera J Alshammari et al. JOURNAL OF MEDICAL GENETICS
- Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
- (2012) Hanan E Shamseldin et al. JOURNAL OF MEDICAL GENETICS
- Mutation inMPDZcauses severe congenital hydrocephalus
- (2012) Mohammed S Al-Dosari et al. JOURNAL OF MEDICAL GENETICS
- Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined byTMEM38Bmutation
- (2012) Ranad Shaheen et al. JOURNAL OF MEDICAL GENETICS
- Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation: Figure 1
- (2012) Hanan E Shamseldin et al. JOURNAL OF MEDICAL GENETICS
- Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
- (2012) Anita Rauch et al. LANCET
- Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
- (2012) Joep de Ligt et al. NEW ENGLAND JOURNAL OF MEDICINE
- Mutation of IGFBP7 Causes Upregulation of BRAF/MEK/ERK Pathway and Familial Retinal Arterial Macroaneurysms
- (2011) Leen Abu-Safieh et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome
- (2011) Ranad Shaheen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia
- (2011) Mohammed A. Aldahmesh et al. AMERICAN JOURNAL OF HUMAN GENETICS
- GM2 gangliosidosis in Saudi Arabia: Multiple mutations and considerations for future carrier screening
- (2011) Namik Kaya et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Six-year outcome of the national premarital screening and genetic counseling program for sickle cell disease and β-thalassemia in Saudi Arabia
- (2011) ZiadAhmed Memish et al. ANNALS OF SAUDI MEDICINE
- 5-Oxoprolinase deficiency: report of the first human OPLAH mutation
- (2011) IA Almaghlouth et al. CLINICAL GENETICS
- Novel recessive BFSP2 and PITX3 mutations: Insights into mutational mechanisms from consanguineous populations
- (2011) Mohammed A. Aldahmesh et al. GENETICS IN MEDICINE
- A TCTN2 mutation defines a novel Meckel Gruber syndrome locus
- (2011) Ranad Shaheen et al. HUMAN MUTATION
- Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
- (2011) Caroline Rooryck et al. NATURE GENETICS
- Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus
- (2011) Sulaiman M Al-Mayouf et al. NATURE GENETICS
- A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)
- (2011) Anas M. Alazami et al. NEUROGENETICS
- FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification?
- (2010) Ranad Shaheen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- An autosomal recessive syndrome of severe cognitive impairment, dysmorphic facies and skeletal abnormalities maps to the long arm of chromosome 17
- (2010) M Al-Owain et al. CLINICAL GENETICS
- Autozygome decoded
- (2010) Fowzan S. Alkuraya GENETICS IN MEDICINE
- Homozygosity mapping: One more tool in the clinical geneticist's toolbox
- (2010) Fowzan S Alkuraya GENETICS IN MEDICINE
- Novel CENPJ mutation causes Seckel syndrome
- (2010) M. S. Al-Dosari et al. JOURNAL OF MEDICAL GENETICS
- Homozygous Mutations in ADAMTS10 and ADAMTS17 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature
- (2009) Jose Morales et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Allelic heterogeneity in inbred populations: The Saudi experience with Alström syndrome as an illustrative example
- (2009) Mohamed A. Aldahmesh et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome
- (2008) Anas M. Alazami et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Translating molecular discoveries into new therapies for atherosclerosis
- (2008) Daniel J. Rader et al. NATURE
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