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Search life-sciences literature (45,104,145 articles, preprints and more)

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Expanding the phenome and variome of skeletal dysplasia.
Maddirevula S, Alsahli S, Alhabeeb L, Patel N, Alzahrani F, Shamseldin HE, Anazi S, Ewida N, Alsaif HS, Mohamed JY, Alazami AM, Ibrahim N, Abdulwahab F, Hashem M, Abouelhoda M, Monies D, Al Tassan N, Alshammari M, Alsagheir A, [...] Alkuraya FS
Genet Med, 20(12):1609-1616, 05 Apr 2018
Cited by: 31 articles | PMID: 29620724
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A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B.
Alazami AM, Kentab AY, Faqeih E, Mohamed JY, Alkhalidi H, Hijazi H, Alkuraya FS
J Med Genet, 52(6):400-404, 06 Mar 2015
Cited by: 33 articles | PMID: 25748484
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Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
Alazami AM, Patel N, Shamseldin HE, Anazi S, Al-Dosari MS, Alzahrani F, Hijazi H, Alshammari M, Aldahmesh MA, Salih MA, Faqeih E, Alhashem A, Bashiri FA, Al-Owain M, Kentab AY, Sogaty S, Al Tala S, Temsah MH, Tulbah M, [...] Alkuraya FS
Cell Rep, 10(2):148-161, 31 Dec 2014
Cited by: 271 articles | PMID: 25558065
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Study of Mendelian forms of Crohn's disease in Saudi Arabia reveals novel risk loci and alleles.
Patel N, El Mouzan MI, Al-Mayouf SM, Adly N, Mohamed JY, Al Mofarreh MA, Ibrahim N, Xiong Y, Zhao Q, Al-Saleem KA, Alkuraya FS
Gut, 63(11):1831-1832, 21 Aug 2014
Cited by: 24 articles | PMID: 25147203
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Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome.
Patel N, Khan AO, Mansour A, Mohamed JY, Al-Assiri A, Haddad R, Jia X, Xiong Y, Mégarbané A, Traboulsi EI, Alkuraya FS
Am J Hum Genet, 94(5):755-759, 24 Apr 2014
Cited by: 37 articles | PMID: 24768550 | PMCID: PMC4067561
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The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18.
Aldahmesh MA, Alshammari MJ, Khan AO, Mohamed JY, Alhabib FA, Alkuraya FS
Hum Mutat, 34(9):1195-1199, 19 Jul 2013
Cited by: 35 articles | PMID: 23818446
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Corneal enlargement without optic disk cupping in children with recessive CYP1B1 mutations.
Khan AO, Aldahmesh MA, Mohamed JY, Alkuraya FS
J AAPOS, 17(6):643-645, 07 Nov 2013
Cited by: 2 articles | PMID: 24210336
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No evidence for locus heterogeneity in Knobloch syndrome.
Aldahmesh MA, Khan AO, Mohamed JY, Levin AV, Wuthisiri W, Lynch S, McCreery K, Alkuraya FS
J Med Genet, 50(8):565-566, 10 May 2013
Cited by: 13 articles | PMID: 23667181
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Complete aniridia with central keratopathy and congenital glaucoma is a CYP1B1-related phenotype.
Khan AO, Aldahmesh MA, Mohamed JY, Hijazi H, Alkuraya FS
Ophthalmic Genet, 35(3):187-189, 14 Jun 2013
Cited by: 5 articles | PMID: 23767995
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Mutations in LRPAP1 are associated with severe myopia in humans.
Aldahmesh MA, Khan AO, Alkuraya H, Adly N, Anazi S, Al-Saleh AA, Mohamed JY, Hijazi H, Prabakaran S, Tacke M, Al-Khrashi A, Hashem M, Reinheckel T, Assiri A, Alkuraya FS
Am J Hum Genet, 93(2):313-320, 03 Jul 2013
Cited by: 63 articles | PMID: 23830514 | PMCID: PMC3738831
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Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.
Alazami AM, Hijazi H, Al-Dosari MS, Shaheen R, Hashem A, Aldahmesh MA, Mohamed JY, Kentab A, Salih MA, Awaji A, Masoodi TA, Alkuraya FS
J Med Genet, 50(7):425-430, 25 Apr 2013
Cited by: 67 articles | PMID: 23620220
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Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly.
Mohamed JY, Faqeih E, Alsiddiky A, Alshammari MJ, Ibrahim NA, Alkuraya FS
Am J Hum Genet, 92(1):157-161, 03 Jan 2013
Cited by: 37 articles | PMID: 23290072 | PMCID: PMC3542464
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Juvenile cataract morphology in 3 siblings not yet diagnosed with cerebrotendinous xanthomatosis.
Khan AO, Aldahmesh MA, Mohamed JY, Alkuraya FS
Ophthalmology, 120(5):956-960, 31 Jan 2013
Cited by: 9 articles | PMID: 23375591
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Congenital glaucoma with acquired peripheral circumferential iris degeneration.
Khan AO, Aldahmesh MA, Mohamed JY, Alkuraya FS
J AAPOS, 17(1):105-107, 28 Jan 2013
Cited by: 11 articles | PMID: 23363883
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CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children.
Khan AO, Aldahmesh MA, Mohamed JY, Hijazi H, Alkuraya FS
J AAPOS, 16(6):571-572, 14 Nov 2012
Cited by: 4 articles | PMID: 23158549
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In search of triallelism in Bardet-Biedl syndrome.
Abu-Safieh L, Al-Anazi S, Al-Abdi L, Hashem M, Alkuraya H, Alamr M, Sirelkhatim MO, Al-Hassnan Z, Alkuraya B, Mohamed JY, Al-Salem A, Alrashed M, Faqeih E, Softah A, Al-Hashem A, Wali S, Rahbeeni Z, Alsayed M, Khan AO, [...] Alkuraya FS
Eur J Hum Genet, 20(4):420-427, 22 Feb 2012
Cited by: 73 articles | PMID: 22353939 | PMCID: PMC3306854
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Clinical and molecular analysis of children with central pulverulent cataract from the Arabian Peninsula.
Khan AO, Aldahmesh MA, Mohamed JY, Alkuraya FS
Br J Ophthalmol, 96(5):650-655, 19 Jan 2012
Cited by: 9 articles | PMID: 22267527
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Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome).
Khan AO, Aldahmesh MA, Mohamed JY, Alkuraya FS
Ophthalmic Genet, 33(2):89-95, 09 Jan 2012
Cited by: 12 articles | PMID: 22229851
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Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes.
Aldahmesh MA, Khan AO, Mohamed JY, Hijazi H, Al-Owain M, Alswaid A, Alkuraya FS
Genet Med, 14(12):955-962, 30 Aug 2012
Cited by: 37 articles | PMID: 22935719
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The distinct ophthalmic phenotype of Knobloch syndrome in children.
Khan AO, Aldahmesh MA, Mohamed JY, Al-Mesfer S, Alkuraya FS
Br J Ophthalmol, 96(6):890-895, 07 Mar 2012
Cited by: 40 articles | PMID: 22399687
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Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.
Aldahmesh MA, Khan AO, Mohamed JY, Alghamdi MH, Alkuraya FS
Hum Mutat, 33(6):960-962, 16 Apr 2012
Cited by: 44 articles | PMID: 22415731
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Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation.
Khan AO, Aldahmesh MA, Al-Ghadeer H, Mohamed JY, Alkuraya FS
Ophthalmic Genet, 33(4):235-239, 09 Apr 2012
Cited by: 23 articles | PMID: 22486325
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A novel mutation in PRDM5 in brittle cornea syndrome.
Aldahmesh MA, Mohamed JY, Alkuraya FS
Clin Genet, 81(2):198-199, 29 Nov 2011
Cited by: 17 articles | PMID: 22122778
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Identification of ADAMTS18 as a gene mutated in Knobloch syndrome.
Aldahmesh MA, Khan AO, Mohamed JY, Alkuraya H, Ahmed H, Bobis S, Al-Mesfer S, Alkuraya FS
J Med Genet, 48(9):597-601, 01 Sep 2011
Cited by: 46 articles | PMID: 21862674
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Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia.
Aldahmesh MA, Mohamed JY, Alkuraya HS, Verma IC, Puri RD, Alaiya AA, Rizzo WB, Alkuraya FS
Am J Hum Genet, 89(6):745-750, 17 Nov 2011
Cited by: 110 articles | PMID: 22100072 | PMCID: PMC3234380
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