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Items: 1 to 20 of 40

1.

Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies.

Loucks CM, Parboosingh JS, Shaheen R, Bernier FP, McLeod DR, Seidahmed MZ, Puffenberger EG, Ober C, Hegele RA, Boycott KM, Alkuraya FS, Innes AM.

Hum Mutat. 2015 Oct;36(10):1015-9. doi: 10.1002/humu.22843. Epub 2015 Aug 17.

PMID:
26220823
2.

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.

3.

Identification of a novel MKS locus defined by TMEM107 mutation.

Shaheen R, Almoisheer A, Faqeih E, Babay Z, Monies D, Tassan N, Abouelhoda M, Kurdi W, Al Mardawi E, Khalil MM, Seidahmed MZ, Alnemer M, Alsahan N, Sogaty S, Alhashem A, Singh A, Goyal M, Kapoor S, Alomar R, Ibrahim N, Alkuraya FS.

Hum Mol Genet. 2015 Sep 15;24(18):5211-8. doi: 10.1093/hmg/ddv242. Epub 2015 Jun 29.

PMID:
26123494
4.

Report of a case of Raine syndrome and literature review.

Seidahmed MZ, Alazami AM, Abdelbasit OB, Al Hussein K, Miqdad AM, Abu-Sa'da O, Mustafa T, Bahjat S, Alkuraya FS.

Am J Med Genet A. 2015 Oct;167A(10):2394-8. doi: 10.1002/ajmg.a.37159. Epub 2015 May 14.

PMID:
25974638
5.

Reply from the author.

Seidahmed MZ.

Saudi Med J. 2015 Mar;36(3):373-4. No abstract available.

PMID:
25906481
6.

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.

7.

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.

8.

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.

9.

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.

10.

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 Suppl 1:S29-35.

11.

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

Salih MA, Murshid WR, Seidahmed MZ.

Saudi Med J. 2014 Dec;35 Suppl 1:S15-28. Review.

12.

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
13.

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.

14.

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.

15.

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
16.

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.

17.

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.

18.

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.

19.

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.

20.

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
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