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Results: 1 to 20 of 29

1.

Infants of diabetic mothers. A cohort study.

Lasheen AE, Abdelbasit OB, Seidahmed MZ, Hussein KA, Miqdad AM, Al Zahrani MH, Farid GM, Badr HA.

Saudi Med J. 2014 Jun;35(6):572-7.

PMID:
24888656
[PubMed - in process]
2.

Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia.

Alazami AM, Seidahmed MZ, Alzahrani F, Mohammed AO, Alkuraya FS.

Mol Genet Genomic Med. 2014 Mar;2(2):103-6. doi: 10.1002/mgg3.44. Epub 2013 Dec 10.

PMID:
24689072
[PubMed]
Free PMC Article
3.

A saudi patient with an interstitial deletion of short arm of chromosome.

Seidahmed MZ.

J Clin Neonatol. 2013 Oct;2(4):201. doi: 10.4103/2249-4847.123111. No abstract available.

PMID:
24404538
[PubMed]
Free PMC Article
4.

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]
5.

Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.

Shaheen R, Shamseldin HE, Loucks CM, Seidahmed MZ, Ansari S, Ibrahim Khalil M, Al-Yacoub N, Davis EE, Mola NA, Szymanska K, Herridge W, Chudley AE, Chodirker BN, Schwartzentruber J, Majewski J, Katsanis N, Poizat C, Johnson CA, Parboosingh J, Boycott KM, Innes AM, Alkuraya FS.

Am J Hum Genet. 2014 Jan 2;94(1):73-9. doi: 10.1016/j.ajhg.2013.11.010. Epub 2013 Dec 19.

PMID:
24360803
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.

Tesson C, Nawara M, Salih MA, Rossignol R, Zaki MS, Al Balwi M, Schule R, Mignot C, Obre E, Bouhouche A, Santorelli FM, Durand CM, Oteyza AC, El-Hachimi KH, Al Drees A, Bouslam N, Lamari F, Elmalik SA, Kabiraj MM, Seidahmed MZ, Esteves T, Gaussen M, Monin ML, Gyapay G, Lechner D, Gonzalez M, Depienne C, Mochel F, Lavie J, Schols L, Lacombe D, Yahyaoui M, Al Abdulkareem I, Zuchner S, Yamashita A, Benomar A, Goizet C, Durr A, Gleeson JG, Darios F, Brice A, Stevanin G.

Am J Hum Genet. 2012 Dec 7;91(6):1051-64. doi: 10.1016/j.ajhg.2012.11.001. Epub 2012 Nov 21.

PMID:
23176821
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.

Shaheen R, Faqeih E, Alshammari MJ, Swaid A, Al-Gazali L, Mardawi E, Ansari S, Sogaty S, Seidahmed MZ, AlMotairi MI, Farra C, Kurdi W, Al-Rasheed S, Alkuraya FS.

Eur J Hum Genet. 2013 Jul;21(7):762-8. doi: 10.1038/ejhg.2012.254. Epub 2012 Nov 21.

PMID:
23169490
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

A novel syndrome of lethal familial hyperekplexia associated with brain malformation.

Seidahmed MZ, Salih MA, Abdulbasit OB, Shaheed M, Al Hussein K, Miqdad AM, Al Rasheed AK, Alazami AM, Alorainy IA, Alkuraya FS.

BMC Neurol. 2012 Oct 27;12:125. doi: 10.1186/1471-2377-12-125.

PMID:
23101555
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Molecular characterization of Joubert syndrome in Saudi Arabia.

Alazami AM, Alshammari MJ, Salih MA, Alzahrani F, Hijazi H, Seidahmed MZ, Abu Safieh L, Aldosary M, Khan AO, Alkuraya FS.

Hum Mutat. 2012 Oct;33(10):1423-8. doi: 10.1002/humu.22134. Epub 2012 Jul 11.

PMID:
22693042
[PubMed - indexed for MEDLINE]
10.

Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2.

Di Blasi C, Bellafiore E, Salih MA, Manzini MC, Moore SA, Seidahmed MZ, Mukhtar MM, Karrar ZA, Walsh CA, Campbell KP, Mantegazza R, Morandi L, Mora M.

BMC Res Notes. 2011 Dec 13;4:534. doi: 10.1186/1756-0500-4-534.

PMID:
22166137
[PubMed]
Free PMC Article
11.

Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome: report of four new cases with renal involvement.

Seidahmed MZ, Alkuraya FS, Shaheed M, Al Zahrani M, Al Manea W, Mansour F, Mustafa T, Farid G, Salih MA.

Am J Med Genet A. 2011 Jun;155A(6):1393-7. doi: 10.1002/ajmg.a.33966. Epub 2011 May 12.

PMID:
21567916
[PubMed - indexed for MEDLINE]
12.

A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.

Shaheen R, Faqeih E, Seidahmed MZ, Sunker A, Alali FE, AlQahtani K, Alkuraya FS.

Hum Mutat. 2011 Jun;32(6):573-8. doi: 10.1002/humu.21507. Epub 2011 May 5.

PMID:
21462283
[PubMed - indexed for MEDLINE]
13.

A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation.

Abu-Amero KK, Hellani AM, Salih MA, Seidahmed MZ, Elmalik TS, Zidan G, Bosley TM.

BMC Med Genet. 2010 Sep 21;11:135. doi: 10.1186/1471-2350-11-135.

PMID:
20858261
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia.

Assoum M, Salih MA, Drouot N, H'Mida-Ben Brahim D, Lagier-Tourenne C, AlDrees A, Elmalik SA, Ahmed TS, Seidahmed MZ, Kabiraj MM, Koenig M.

Brain. 2010 Aug;133(Pt 8):2439-47. doi: 10.1093/brain/awq181.

PMID:
20826435
[PubMed - indexed for MEDLINE]
Free Article
15.

Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs.

Shaheen R, Al-Dirbashi OY, Al-Hassnan ZN, Al-Owain M, Makhsheed N, Basheeri F, Seidahmed MZ, Salih MA, Faqih E, Zaidan H, Al-Sayed M, Rahbeeni Z, Al-Sheddi T, Hashem M, Kurdi W, Shimozawa N, Alkuraya FS.

Clin Genet. 2011 Jan;79(1):60-70. doi: 10.1111/j.1399-0004.2010.01498.x.

PMID:
20681997
[PubMed - indexed for MEDLINE]
16.

Efficient identification of novel mutations in patients with limb girdle muscular dystrophy.

Boyden SE, Salih MA, Duncan AR, White AJ, Estrella EA, Burgess SL, Seidahmed MZ, Al-Jarallah AS, Alkhalidi HM, Al-Maneea WM, Bennett RR, Alshemmari SH, Kunkel LM, Kang PB.

Neurogenetics. 2010 Oct;11(4):449-55. doi: 10.1007/s10048-010-0250-9. Epub 2010 Jul 13.

PMID:
20623375
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

A case of fetal valproate syndrome with new features expanding the phenotype.

Al-Mendalawi MD, Seidahmed MZ.

Saudi Med J. 2009 Jul;30(7):977; author reply 977-8. No abstract available.

PMID:
19618023
[PubMed - indexed for MEDLINE]
18.

A case of fetal valproate syndrome with new features expanding the phenotype.

Seidahmed MZ, Miqdad AM, Al-Dohami HS, Shareefi OM.

Saudi Med J. 2009 Feb;30(2):288-91.

PMID:
19198722
[PubMed - indexed for MEDLINE]
19.

Ophthalmic features of Joubert syndrome.

Khan AO, Oystreck DT, Seidahmed MZ, AlDrees A, Elmalik SA, Alorainy IA, Salih MA.

Ophthalmology. 2008 Dec;115(12):2286-9. doi: 10.1016/j.ophtha.2008.08.005.

PMID:
19041481
[PubMed - indexed for MEDLINE]
20.

Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.

Manzini MC, Gleason D, Chang BS, Hill RS, Barry BJ, Partlow JN, Poduri A, Currier S, Galvin-Parton P, Shapiro LR, Schmidt K, Davis JG, Basel-Vanagaite L, Seidahmed MZ, Salih MA, Dobyns WB, Walsh CA.

Hum Mutat. 2008 Nov;29(11):E231-41. doi: 10.1002/humu.20844.

PMID:
18752264
[PubMed - indexed for MEDLINE]
Free PMC Article

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