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Results: 1 to 20 of 181

1.

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.

PMID:
25558065
[PubMed - in process]
Free Article
2.

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(12):S57-63.

PMID:
25551114
[PubMed - in process]
3.

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

Salih MA, Murshid WR, Seidahmed MZ.

Saudi Med J. 2014 Dec;35(12):S5-S14.

PMID:
25551113
[PubMed - in process]
4.

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(12):S49-56.

PMID:
25551112
[PubMed - in process]
5.

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(12):S44-8.

PMID:
25551111
[PubMed - in process]
6.

Sirenomelia and severe caudal regression syndrome.

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

Saudi Med J. 2014 Dec;35(12):S36-43.

PMID:
25551110
[PubMed - in process]
7.

Neural tube defects. Challenging, yet preventable.

Salih MA.

Saudi Med J. 2014 Dec;35(12):S3-4. No abstract available.

PMID:
25551109
[PubMed - in process]
8.

Epidemiology of neural tube defects.

Seidahmed MZ, Abdelbasit OB, Shaheed MM, Alhussein KA, Miqdad AM, Khalil MI, Al-Enazy NM, Salih MA.

Saudi Med J. 2014 Dec;35(12):S29-35.

PMID:
25551108
[PubMed - in process]
9.

Message from the guest editor.

Salih MA.

Saudi Med J. 2014 Dec;35(12):S2. No abstract available.

PMID:
25551107
[PubMed - in process]
10.

Epidemiology, prenatal management, and prevention of neural tube defects.

Salih MA, Murshid WR, Seidahmed MZ.

Saudi Med J. 2014 Dec;35(12):S15-28.

PMID:
25551106
[PubMed - in process]
11.

The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.

Al-Qattan SM, Wakil SM, Anazi S, Alazami AM, Patel N, Shaheen R, Shamseldin HE, Hagos ST, AlDossari HM, Salih MA, El Khashab HY, Kentab AY, AlNasser MN, Bashiri FA, Kaya N, Hashem MO, Alkuraya FS.

Genet Med. 2014 Dec 11. doi: 10.1038/gim.2014.184. [Epub ahead of print]

PMID:
25503496
[PubMed - as supplied by publisher]
12.

Insights into the possible role of IFNG and IFNGR1 in Kala-azar and Post Kala-azar Dermal Leishmaniasis in Sudanese patients.

Salih MA, Fakiola M, Abdelraheem MH, Younis BM, Musa AM, ElHassan AM, Blackwell JM, Ibrahim ME, Mohamed HS.

BMC Infect Dis. 2014 Dec 3;14(1):662. [Epub ahead of print]

PMID:
25466928
[PubMed - as supplied by publisher]
Free PMC Article
13.

CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis.

Manzini MC, Xiong L, Shaheen R, Tambunan DE, Di Costanzo S, Mitisalis V, Tischfield DJ, Cinquino A, Ghaziuddin M, Christian M, Jiang Q, Laurent S, Nanjiani ZA, Rasheed S, Hill RS, Lizarraga SB, Gleason D, Sabbagh D, Salih MA, Alkuraya FS, Walsh CA.

Cell Rep. 2014 Aug 7;8(3):647-55. doi: 10.1016/j.celrep.2014.06.039. Epub 2014 Jul 24.

PMID:
25066123
[PubMed - in process]
Free PMC Article
14.

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.

Di Costanzo S, Balasubramanian A, Pond HL, Rozkalne A, Pantaleoni C, Saredi S, Gupta VA, Sunu CM, Yu TW, Kang PB, Salih MA, Mora M, Gussoni E, Walsh CA, Manzini MC.

Hum Mol Genet. 2014 Nov 1;23(21):5781-92. doi: 10.1093/hmg/ddu296. Epub 2014 Jun 11.

PMID:
24925318
[PubMed - in process]
15.

Congenital toxoplasmosis presenting as central diabetes insipidus in an infant: a case report.

Mohamed S, Osman A, Al Jurayyan NA, Al Nemri A, Salih MA.

BMC Res Notes. 2014 Mar 28;7:184. doi: 10.1186/1756-0500-7-184.

PMID:
24674575
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

SLC25A22 is a novel gene for migrating partial seizures in infancy.

Poduri A, Heinzen EL, Chitsazzadeh V, Lasorsa FM, Elhosary PC, LaCoursiere CM, Martin E, Yuskaitis CJ, Hill RS, Atabay KD, Barry B, Partlow JN, Bashiri FA, Zeidan RM, Elmalik SA, Kabiraj MM, Kothare S, Stödberg T, McTague A, Kurian MA, Scheffer IE, Barkovich AJ, Palmieri F, Salih MA, Walsh CA.

Ann Neurol. 2013 Dec;74(6):873-82. doi: 10.1002/ana.23998.

PMID:
24596948
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Ophthalmic features of PLA2G6-related paediatric neurodegeneration with brain iron accumulation.

Khan AO, AlDrees A, Elmalik SA, Hassan HH, Michel M, Stevanin G, Azzedine H, Salih MA.

Br J Ophthalmol. 2014 Jul;98(7):889-93.

PMID:
24522175
[PubMed - indexed for MEDLINE]
18.

Bilateral congenital entropion with cutis laxa.

Al-Faky YH, Salih MA, Mubarak M, Al-Rikabi AC.

Pediatr Dermatol. 2014 May-Jun;31(3):e82-4. doi: 10.1111/pde.12255. Epub 2014 Feb 11.

PMID:
24517732
[PubMed - indexed for MEDLINE]
19.

Neurologic injury in isolated sulfite oxidase deficiency.

Bosley TM, Alorainy IA, Oystreck DT, Hellani AM, Seidahmed MZ, Osman Mel F, Sabry MA, Rashed MS, Al-Yamani EA, Abu-Amero KK, Salih MA.

Can J Neurol Sci. 2014 Jan;41(1):42-8.

PMID:
24384336
[PubMed - in process]
20.

The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.

Mallaret M, Synofzik M, Lee J, Sagum CA, Mahajnah M, Sharkia R, Drouot N, Renaud M, Klein FA, Anheim M, Tranchant C, Mignot C, Mandel JL, Bedford M, Bauer P, Salih MA, Schüle R, Schöls L, Aldaz CM, Koenig M.

Brain. 2014 Feb;137(Pt 2):411-9. doi: 10.1093/brain/awt338. Epub 2013 Dec 24.

PMID:
24369382
[PubMed - indexed for MEDLINE]
Free PMC Article
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