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Results: 1 to 20 of 171

1.

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]
2.

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
3.

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 Article
4.

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]
5.

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
6.

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
7.

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]
8.

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]
9.

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]
10.

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]
11.

C19orf12 mutation leads to a pallido-pyramidal syndrome.

Kruer MC, Salih MA, Mooney C, Alzahrani J, Elmalik SA, Kabiraj MM, Khan AO, Paudel R, Houlden H, Azzedine H, Alkuraya F.

Gene. 2014 Mar 10;537(2):352-6. doi: 10.1016/j.gene.2013.11.039. Epub 2013 Dec 17.

PMID:
24361204
[PubMed - indexed for MEDLINE]
12.

Pellagra-like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit.

Hijazi H, Salih MA, Hamad MH, Hassan HH, Salih SB, Mohamed KA, Mukhtar MM, Karrar ZA, Ansari S, Ibrahim N, Alkuraya FS.

Clin Genet. 2015 Jan;87(1):56-61. doi: 10.1111/cge.12325. Epub 2013 Dec 20.

PMID:
24354460
[PubMed - in process]
13.

Correction: New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations.

Salih MA, Mundwiller E, Khan AO, Aldrees A, Elmalik SA, Hassan HH, Al-Owain M, Alkhalidi HM, Katona I, Kabiraj MM, Chrast R, Kentab AY, Alzaidan H, Rodenburg RJ, Bosley TM, Weis J, Koenig M, Stevanin G, Azzedine H.

PLoS One. 2013 Nov 6;8(11). doi: 10.1371/annotation/cb01a74a-3330-4412-8040-2a94842420ed. eCollection 2013.

PMID:
24250758
[PubMed - as supplied by publisher]
Free PMC Article
14.

New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations.

Salih MA, Mundwiller E, Khan AO, AlDrees A, Elmalik SA, Hassan HH, Al-Owain M, Alkhalidi HM, Katona I, Kabiraj MM, Chrast R, Kentab AY, Alzaidan H, Rodenburg RJ, Bosley TM, Weis J, Koenig M, Stevanin G, Azzedine H.

PLoS One. 2013 Oct 9;8(10):e76831. doi: 10.1371/journal.pone.0076831. eCollection 2013. Erratum in: PLoS One. 2013;8(11). doi:10.1371/annotation/cb01a74a-3330-4412-8040-2a94842420ed.

PMID:
24130795
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.

Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S, Robinson AJ, Wong LJ, Sondheimer N, Salih MA, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, Lamperti C, Mayr JA, Konstantopoulou V, Huemer M, Pierce EA, Meitinger T, Freisinger P, Sperl W, Prokisch H, Alkuraya FS, Falk MJ, Zeviani M.

Am J Hum Genet. 2013 Sep 5;93(3):482-95. doi: 10.1016/j.ajhg.2013.07.016. Epub 2013 Aug 29.

PMID:
23993194
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Synthesis of azetidines and pyrrolidines via iodocyclisation of homoallyl amines and exploration of activity in a zebrafish embryo assay.

Feula A, Dhillon SS, Byravan R, Sangha M, Ebanks R, Salih MA, Spencer N, Male L, Magyary I, Deng WP, Müller F, Fossey JS.

Org Biomol Chem. 2013 Aug 21;11(31):5083-93. doi: 10.1039/c3ob41007b. Epub 2013 Jul 3.

PMID:
23824110
[PubMed - indexed for MEDLINE]
17.

Expanding the clinical spectrum and allelic heterogeneity in van den Ende-Gupta syndrome.

Patel N, Salih MA, Alshammari MJ, Abdulwahhab F, Adly N, Alzahrani F, Elgamal EA, Elkhashab HY, Al-Qattan M, Alkuraya FS.

Clin Genet. 2014 May;85(5):492-4. doi: 10.1111/cge.12205. Epub 2013 Jun 27. No abstract available.

PMID:
23808541
[PubMed - indexed for MEDLINE]
18.

The Salih ataxia mutation impairs Rubicon endosomal localization.

Assoum M, Salih MA, Drouot N, Hnia K, Martelli A, Koenig M.

Cerebellum. 2013 Dec;12(6):835-40. doi: 10.1007/s12311-013-0489-4.

PMID:
23728897
[PubMed - indexed for MEDLINE]
19.

A newly recognized autosomal recessive syndrome affecting neurologic function and vision.

Salih MA, Tzschach A, Oystreck DT, Hassan HH, AlDrees A, Elmalik SA, El Khashab HY, Wienker TF, Abu-Amero KK, Bosley TM.

Am J Med Genet A. 2013 Jun;161A(6):1207-13. doi: 10.1002/ajmg.a.35850. Epub 2013 Apr 30.

PMID:
23633300
[PubMed - in process]
20.

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. 2013 Jul;50(7):425-30. doi: 10.1136/jmedgenet-2012-101378. Epub 2013 Apr 25.

PMID:
23620220
[PubMed - indexed for MEDLINE]

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