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Items: 1 to 20 of 194

1.

Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.

Anazi S, Maddirevula S, Faqeih E, Alsedairy H, Alzahrani F, Shamseldin HE, Patel N, Hashem M, Ibrahim N, Abdulwahab F, Ewida N, Alsaif HS, Al Sharif H, Alamoudi W, Kentab A, Bashiri FA, Alnaser M, AlWadei AH, Alfadhel M, Eyaid W, Hashem A, Al Asmari A, Saleh MM, AlSaman A, Alhasan KA, Alsughayir M, Al Shammari M, Mahmoud A, Al-Hassnan ZN, Al-Husain M, Osama Khalil R, Abd El Meguid N, Masri A, Ali R, Ben-Omran T, El Fishway P, Hashish A, Ercan Sencicek A, State M, Alazami AM, Salih MA, Altassan N, Arold ST, Abouelhoda M, Wakil SM, Monies D, Shaheen R, Alkuraya FS.

Mol Psychiatry. 2016 Jul 19. doi: 10.1038/mp.2016.113. [Epub ahead of print]

PMID:
27431290
2.

Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report.

Seidahmed MZ, Salih MA, Abdulbasit OB, Samadi A, Al Hussien K, Miqdad AM, Biary MS, Alazami AM, Alorainy IA, Kabiraj MM, Shaheen R, Alkuraya FS.

BMC Neurol. 2016 Jul 15;16:105. doi: 10.1186/s12883-016-0633-0.

3.

Auto-immune anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis: three case reports.

Bashiri FA, Al-Rasheed AA, Hassan SM, Hamad MH, El Khashab HY, Kentab AY, AlBadr FB, Salih MA.

Paediatr Int Child Health. 2016 Jun 22:1-5. [Epub ahead of print]

PMID:
27329512
4.

Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy.

Seidahmed MZ, Salih MA, Abdelbasit OB, Alassiri AH, Hussein KA, Miqdad A, Samadi A, Rasheed AA, Alorainy IA, Shaheen R, Alkuraya FS.

Am J Med Genet A. 2016 Aug;170(8):2219-21. doi: 10.1002/ajmg.a.37768. Epub 2016 May 30. No abstract available.

PMID:
27242277
5.

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

Madeo M, Stewart M, Sun Y, Sahir N, Wiethoff S, Chandrasekar I, Yarrow A, Rosenfeld JA, Yang Y, Cordeiro D, McCormick EM, Muraresku CC, Jepperson TN, McBeth LJ, Seidahmed MZ, El Khashab HY, Hamad M, Azzedine H, Clark K, Corrochano S, Wells S, Elting MW, Weiss MM, Burn S, Myers A, Landsverk M, Crotwell PL, Waisfisz Q, Wolf NI, Nolan PM, Padilla-Lopez S, Houlden H, Lifton R, Mane S, Singh BB, Falk MJ, Mercimek-Mahmutoglu S, Bilguvar K, Salih MA, Acevedo-Arozena A, Kruer MC.

Am J Hum Genet. 2016 Jun 2;98(6):1249-55. doi: 10.1016/j.ajhg.2016.04.008. Epub 2016 May 26.

PMID:
27236917
6.

A null mutation in TNIK defines a novel locus for intellectual disability.

Anazi S, Shamseldin HE, AlNaqeb D, Abouelhoda M, Monies D, Salih MA, Al-Rubeaan K, Alkuraya FS.

Hum Genet. 2016 Jul;135(7):773-8. doi: 10.1007/s00439-016-1671-9. Epub 2016 Apr 22.

PMID:
27106596
7.

Duane retraction syndrome in a patient with Duchenne muscular dystrophy.

Bosley TM, Salih MA, Alkhalidi H, Oystreck DT, El Khashab HY, Kondkar AA, Abu-Amero KK.

Ophthalmic Genet. 2016 Sep;37(3):276-80. doi: 10.3109/13816810.2015.1039139. Epub 2016 Feb 5.

PMID:
26849454
8.

Novel copy number variants and major limb reduction malformation: Report of three cases.

Shamseldin HE, Anazi S, Wakil SM, Faqeih E, El Khashab HY, Salih MA, Al-Qattan MM, Hashem M, Alsedairy H, Alkuraya FS.

Am J Med Genet A. 2016 May;170(5):1245-50. doi: 10.1002/ajmg.a.37550. Epub 2016 Jan 8.

PMID:
26749485
9.

A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease.

Elsayed LE, Drouet V, Usenko T, Mohammed IN, Hamed AA, Elseed MA, Salih MA, Koko ME, Mohamed AY, Siddig RA, Elbashir MI, Ibrahim ME, Durr A, Stevanin G, Lesage S, Ahmed AE, Brice A.

Ann Neurol. 2016 Feb;79(2):335-7. doi: 10.1002/ana.24591. Epub 2016 Jan 19. No abstract available.

PMID:
26703368
10.

Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.

Shaheen R, Patel N, Shamseldin H, Alzahrani F, Al-Yamany R, ALMoisheer A, Ewida N, Anazi S, Alnemer M, Elsheikh M, Alfaleh K, Alshammari M, Alhashem A, Alangari AA, Salih MA, Kircher M, Daza RM, Ibrahim N, Wakil SM, Alaqeel A, Altowaijri I, Shendure J, Al-Habib A, Faqieh E, Alkuraya FS.

Genet Med. 2016 Jul;18(7):686-95. doi: 10.1038/gim.2015.147. Epub 2015 Dec 3.

PMID:
26633546
11.

Glutaric aciduria type 1 as a cause of dystonic cerebral palsy.

Mohamed S, Hamad MH, Hassan HH, Salih MA.

Saudi Med J. 2015 Nov;36(11):1354-7. doi: 10.15537/smj.2015.11.12132.

12.

Charcot-Marie-Tooth Neuropathy Type 4C.

Azzedine H, LeGuern E, Salih MA.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2008 Mar 31 [updated 2015 Oct 15].

13.

Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome.

Salih MA, Seidahmed MZ, El Khashab HY, Hamad MH, Bosley TM, Burn S, Myers A, Landsverk ML, Crotwell PL, Bilguvar K, Mane S, Kruer MC.

Tremor Other Hyperkinet Mov (N Y). 2015 Jul 9;5:306. doi: 10.7916/D8D21WQ0. eCollection 2015.

14.

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, Aljelaify RF, Alshahwan SA, Seidahmed MZ, Alhadid AA, Aldhalaan H, AlQallaf F, Kurdi W, Alfadhel M, Babay Z, Alsogheer M, Kaya N, Al-Hassnan ZN, Abdel-Salam GM, Al-Sannaa N, Al Mutairi F, El Khashab HY, Bohlega S, Jia X, Nguyen HC, Hammami R, Adly N, Mohamed JY, Abdulwahab F, Ibrahim N, Naim EA, Al-Younes B, Meyer BF, Hashem M, Shaheen R, Xiong Y, Abouelhoda M, Aldeeri AA, Monies DM, Alkuraya FS.

Cell Rep. 2015 Jan 13;10(2):148-61. doi: 10.1016/j.celrep.2014.12.015. Epub 2014 Dec 31.

15.

Agenesis of the corpus callosum associated with spinal open neural tube defect.

Elgamal EA, Elwatidy SM, Alhabib AF, Jamjoom ZB, Murshid WR, Hassan HH, Salih MA.

Saudi Med J. 2014 Dec;35 Suppl 1:S57-63.

16.

Classification, clinical features, and genetics of neural tube defects.

Salih MA, Murshid WR, Seidahmed MZ.

Saudi Med J. 2014 Dec;35 Suppl 1:S5-S14. Review.

17.

Genetic, chromosomal, and syndromic causes of neural tube defects.

Seidahmed MZ, Abdelbasit OB, Shaheed MM, Alhussein KA, Miqdad AM, Samadi AS, Khalil MI, Al-Mardawi E, Salih MA.

Saudi Med J. 2014 Dec;35 Suppl 1:S49-56.

18.

Split cord malformation associated with spinal open neural tube defect.

Elgamal EA, Hassan HH, Elwatidy SM, Altwijri I, Alhabib AF, Jamjoom ZB, Murshid WR, Salih MA.

Saudi Med J. 2014 Dec;35 Suppl 1:S44-8.

19.

Sirenomelia and severe caudal regression syndrome.

Seidahmed MZ, Abdelbasit OB, Alhussein KA, Miqdad AM, Khalil MI, Salih MA.

Saudi Med J. 2014 Dec;35 Suppl 1:S36-43.

20.

Neural tube defects. Challenging, yet preventable.

Salih MA.

Saudi Med J. 2014 Dec;35 Suppl 1:S3-4. No abstract available.

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