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Items: 1 to 50 of 74

1.

Genetic Mosaicism in Calmodulinopathy.

Wren LM, Jiménez-Jáimez J, Al-Ghamdi S, Al-Aama JY, Bdeir A, Al-Hassnan ZN, Kuan JL, Foo RY, Potet F, Johnson CN, Aziz MC, Carvill GL, Kaski JP, Crotti L, Perin F, Monserrat L, Burridge PW, Schwartz PJ, Chazin WJ, Bhuiyan ZA, George AL Jr.

Circ Genom Precis Med. 2019 Sep;12(9):375-385. doi: 10.1161/CIRCGEN.119.002581. Epub 2019 Aug 27.

PMID:
31454269
2.

Optic neuropathy in classical methylmalonic acidemia.

AlOwain M, Khalifa OA, Al Sahlawi Z, Hussein MH, Sulaiman RA, Al-Sayed M, Rahbeeni Z, Al-Hassnan Z, Al-Zaidan H, Nezzar H, Al Homoud I, Eldali A, Altonen B, Handoom BS, Mbekeani JN.

Ophthalmic Genet. 2019 Aug;40(4):313-322. doi: 10.1080/13816810.2019.1634740. Epub 2019 Jul 4.

PMID:
31269850
3.

Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry.

Crotti L, Spazzolini C, Tester DJ, Ghidoni A, Baruteau AE, Beckmann BM, Behr ER, Bennett JS, Bezzina CR, Bhuiyan ZA, Celiker A, Cerrone M, Dagradi F, De Ferrari GM, Etheridge SP, Fatah M, Garcia-Pavia P, Al-Ghamdi S, Hamilton RM, Al-Hassnan ZN, Horie M, Jimenez-Jaimez J, Kanter RJ, Kaski JP, Kotta MC, Lahrouchi N, Makita N, Norrish G, Odland HH, Ohno S, Papagiannis J, Parati G, Sekarski N, Tveten K, Vatta M, Webster G, Wilde AAM, Wojciak J, George AL, Ackerman MJ, Schwartz PJ.

Eur Heart J. 2019 Sep 14;40(35):2964-2975. doi: 10.1093/eurheartj/ehz311.

PMID:
31170290
4.

Modifying inter-cistronic sequence significantly enhances IRES dependent second gene expression in bicistronic vector: Construction of optimised cassette for gene therapy of familial hypercholesterolemia.

Al-Allaf FA, Abduljaleel Z, Athar M, Taher MM, Khan W, Mehmet H, Colakogullari M, Apostolidou S, Bigger B, Waddington S, Coutelle C, Themis M, Al-Ahdal MN, Al-Mohanna FA, Al-Hassnan ZN, Bouazzaoui A.

Noncoding RNA Res. 2018 Nov 22;4(1):1-14. doi: 10.1016/j.ncrna.2018.11.005. eCollection 2019 Mar.

5.

The effects of low protein products availability on growth parameters and metabolic control in selected amino acid metabolism disorders patients.

Handoom B, Megdad E, Al-Qasabi D, Al Mesned M, Hawary R, Al-Nufiee S, Al-Hassnan Z, Alsayed MD, Eldali A.

Int J Pediatr Adolesc Med. 2018 Jun;5(2):60-68. doi: 10.1016/j.ijpam.2018.04.001. Epub 2018 Jun 14.

6.

Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia.

Al-Hamed MH, Imtiaz F, Al-Hassnan Z, Al-Owain M, Al-Zaidan H, Alamoudi MS, Faqeih E, Alfadhel M, Al-Asmari A, Saleh MM, Almutairi F, Moghrabi N, AlSayed M.

Mol Genet Metab Rep. 2019 Jan 9;18:22-29. doi: 10.1016/j.ymgmr.2018.12.004. eCollection 2019 Mar.

7.

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report.

Al-Qattan MM, Jarman A, Rafique A, Al-Hassnan ZN, Al-Qattan HM.

BMC Med Genet. 2019 Jan 11;20(1):12. doi: 10.1186/s12881-019-0747-5.

8.

The many faces of peroxisomal disorders: Lessons from a large Arab cohort.

Alshenaifi J, Ewida N, Anazi S, Shamseldin HE, Patel N, Maddirevula S, Al-Sheddi T, Alomar R, Alobeid E, Ibrahim N, Hashem M, Abdulwahab F, Jacob M, Alhashem A, Alzaidan HI, Seidahmed MZ, Alhashemi N, Rawashdeh R, Eyaid W, Al-Hassnan ZN, Rahbeeni Z, Alswaid A, Hadid A, Qari A, Mohammed DA, El Khashab HY, Alfadhel M, Abanemai M, Sunbul R, Al Tala S, Alkhalifi S, Alkharfi T, Abouelhoda M, Monies D, Al Tassan N, AlDubayan SH, Kurdi W, Al-Owain M, Dasouki MJ, Kentab AY, Atyani S, Makhseed N, Faqeih E, Shaheen R, Alkuraya FS.

Clin Genet. 2019 Feb;95(2):310-319. doi: 10.1111/cge.13481. Epub 2018 Dec 18.

PMID:
30561787
9.

Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin.

Balobaid A, Ben-Omran T, Ramzan K, Altassan R, Almureikhi M, Musa S, Al-Hashmi N, Al-Owain M, Al-Zaidan H, Al-Hassnan Z, Imtiaz F, Al-Sayed M.

Am J Med Genet A. 2018 Dec;176(12):2850-2857. doi: 10.1002/ajmg.a.40627. Epub 2018 Oct 22.

PMID:
30345601
10.

The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients.

Al-Hassnan ZN, Khalifa OA, Bubshait DK, Tulbah S, Alkorashy M, Alzaidan H, Alowain M, Rahbeeni Z, Al-Sayed M.

Mol Genet Metab Rep. 2018 Feb 7;15:50-54. doi: 10.1016/j.ymgmr.2018.02.001. eCollection 2018 Jun.

11.

De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotype.

Derar N, Al-Hassnan ZN, Al-Owain M, Monies D, Abouelhoda M, Meyer BF, Moghrabi N, Alkuraya FS.

Genet Med. 2019 Jan;21(1):185-188. doi: 10.1038/s41436-018-0014-8. Epub 2018 Jun 11.

PMID:
29892088
12.

Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection.

Mustafa AE, Faquih T, Baz B, Kattan R, Al-Issa A, Tahir AI, Imtiaz F, Ramzan K, Al-Sayed M, Alowain M, Al-Hassnan Z, Al-Zaidan H, Abouelhoda M, Al-Mubarak BR, Al Tassan NA.

Genes (Basel). 2018 May 22;9(5). pii: E267. doi: 10.3390/genes9050267.

13.

ISCA2-Related Mitochondrial Disorder.

Al-Hassnan ZN, Kaya N.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2018 Feb 22.

14.

Identification of novel genomic imbalances in Saudi patients with congenital heart disease.

Al-Hassnan ZN, Albawardi W, Almutairi F, AlMass R, AlBakheet A, Mustafa OM, AlQuait L, Shinwari ZMA, Wakil S, Salih MA, Al-Fayyadh M, Hassan SM, Aljoufan M, Al-Nakhli O, Levy B, AlMaarik B, Al-Hakami HA, Alsagob M, Colak D, Kaya N.

Mol Cytogenet. 2018 Jan 25;11:9. doi: 10.1186/s13039-018-0356-6. eCollection 2018.

15.

Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.

Alrakaf L, Al-Owain MA, Busehail M, Alotaibi MA, Monies D, Aldhalaan HM, Alhashem A, Al-Hassnan ZN, Rahbeeni ZA, Murshedi FA, Ani NA, Al-Maawali A, Ibrahim NA, Abdulwahab FM, Alsagob M, Hashem MO, Ramadan W, Abouelhoda M, Meyer BF, Kaya N, Maddirevula S, Alkuraya FS.

Am J Med Genet A. 2018 Mar;176(3):715-721. doi: 10.1002/ajmg.a.38615. Epub 2018 Jan 31.

PMID:
29383837
16.

Molecular and clinical spectra of FBXL4 deficiency.

El-Hattab AW, Dai H, Almannai M, Wang J, Faqeih EA, Al Asmari A, Saleh MAM, Elamin MAO, Alfadhel M, Alkuraya FS, Hashem M, Aldosary MS, Almass R, Almutairi FB, Alsagob M, Al-Owain M, Al-Sharfa S, Al-Hassnan ZN, Rahbeeni Z, Al-Muhaizea MA, Makhseed N, Foskett GK, Stevenson DA, Gomez-Ospina N, Lee C, Boles RG, Schrier Vergano SA, Wortmann SB, Sperl W, Opladen T, Hoffmann GF, Hempel M, Prokisch H, Alhaddad B, Mayr JA, Chan W, Kaya N, Wong LC.

Hum Mutat. 2017 Dec;38(12):1649-1659. doi: 10.1002/humu.23341. Epub 2017 Oct 6. Review.

PMID:
28940506
17.

Successful Management of Pregnancies in Patients with Inherited Disorders of Ketone Body Metabolism.

Sulaiman RA, Al-Nemer M, Khan R, Almasned M, Handoum BS, Al-Hassnan ZN.

JIMD Rep. 2018;38:41-44. doi: 10.1007/8904_2017_24. Epub 2017 May 10.

18.

The Phenotype and Outcome of Infantile Cardiomyopathy Caused by a Homozygous ELAC2 Mutation.

Shinwari ZMA, Almesned A, Alakhfash A, Al-Rashdan AM, Faqeih E, Al-Humaidi Z, Alomrani A, Alghamdi M, Colak D, Alwadai A, Rababh M, Al-Fayyadh M, Al-Hassnan ZN.

Cardiology. 2017;137(3):188-192. doi: 10.1159/000465516. Epub 2017 Apr 26.

PMID:
28441660
19.

Clinical profile and mutation spectrum of long QT syndrome in Saudi Arabia: The impact of consanguinity.

Al-Hassnan ZN, Al-Fayyadh M, Al-Ghamdi B, Shafquat A, Mallawi Y, Al-Hadeq F, Tulbah S, Shinwari ZMA, Almesned A, Alakhfash A, Al Fadly F, Hersi AS, Alhayani A, Al-Hashem A, Arafah D, Dzimiri N, Meyer B, Rababh M, Al-Manea W.

Heart Rhythm. 2017 Aug;14(8):1191-1199. doi: 10.1016/j.hrthm.2017.04.028. Epub 2017 Apr 22.

PMID:
28438721
20.

Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease.

Imtiaz F, Al-Mostafa A, Allam R, Ramzan K, Al-Tassan N, Tahir AI, Al-Numair NS, Al-Hamed MH, Al-Hassnan Z, Al-Owain M, Al-Zaidan H, Al-Amoudi M, Qari A, Balobaid A, Al-Sayed M.

Mol Genet Metab Rep. 2017 Apr 7;11:17-23. doi: 10.1016/j.ymgmr.2017.03.006. eCollection 2017 Jun.

21.

Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders.

Alfadhel M, Al Othaim A, Al Saif S, Al Mutairi F, Alsayed M, Rahbeeni Z, Alzaidan H, Alowain M, Al-Hassnan Z, Saeedi M, Aljohery S, Alasmari A, Faqeih E, Alwakeel M, AlMashary M, Almohameed S, Alzahrani M, Migdad A, Al-Dirbashi OY, Rashed M, Alamoudi M, Jacob M, Alahaidib L, El-Badaoui F, Saadallah A, Alsulaiman A, Eyaid W, Al-Odaib A.

J Paediatr Child Health. 2017 Jun;53(6):585-591. doi: 10.1111/jpc.13469. Epub 2017 Mar 24.

PMID:
28337809
22.

Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.

Altassan R, Saud HA, Masoodi TA, Dosssari HA, Khalifa O, Al-Zaidan H, Sakati N, Rhabeeni Z, Al-Hassnan Z, Binamer Y, Alhashemi N, Wade W, Al-Zayed Z, Al-Sayed M, Al-Muhaizea MA, Meyer B, Al-Owain M, Wakil SM.

Am J Med Genet A. 2017 Apr;173(4):1009-1016. doi: 10.1002/ajmg.a.38120.

PMID:
28328124
23.

Hemophagocytic lymphohistiocytosis: A rare cause of recurrent encephalopathy.

Sulaiman RA, Shaheen MY, Al-Zaidan H, Al-Hassnan Z, Al-Sayed M, Rahbeeni Z, Bakshi NA, Kaya N, Aldosary M, Al-Owain M.

Intractable Rare Dis Res. 2016 Aug;5(3):227-30. doi: 10.5582/irdr.2016.01018.

24.

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. 2017 Apr;22(4):615-624. doi: 10.1038/mp.2016.113. Epub 2016 Jul 19.

PMID:
27431290
25.

Guidelines for acute management of hyperammonemia in the Middle East region.

Alfadhel M, Mutairi FA, Makhseed N, Jasmi FA, Al-Thihli K, Al-Jishi E, AlSayed M, Al-Hassnan ZN, Al-Murshedi F, Häberle J, Ben-Omran T.

Ther Clin Risk Manag. 2016 Mar 31;12:479-87. doi: 10.2147/TCRM.S93144. eCollection 2016.

26.

A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy.

Al-Hassnan ZN, Shinwari ZM, Wakil SM, Tulbah S, Mohammed S, Rahbeeni Z, Alghamdi M, Rababh M, Colak D, Kaya N, Al-Fayyadh M, Alburaiki J.

BMC Med Genet. 2016 Jan 14;17:3. doi: 10.1186/s12881-016-0267-5.

27.

Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.

Imtiaz F, Al-Mubarak BM, Al-Mostafa A, Al-Hamed M, Allam R, Al-Hassnan Z, Al-Owain M, Al-Zaidan H, Rahbeeni Z, Qari A, Faqeih EA, Alasmari A, Al-Mutairi F, Alfadhel M, Eyaid WM, Rashed MS, Al-Sayed M.

JIMD Rep. 2016;29:39-46. Epub 2015 Nov 29.

28.

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.

29.

ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.

Al-Hassnan ZN, Al-Dosary M, Alfadhel M, Faqeih EA, Alsagob M, Kenana R, Almass R, Al-Harazi OS, Al-Hindi H, Malibari OI, Almutari FB, Tulbah S, Alhadeq F, Al-Sheddi T, Alamro R, AlAsmari A, Almuntashri M, Alshaalan H, Al-Mohanna FA, Colak D, Kaya N.

J Med Genet. 2015 Mar;52(3):186-94. doi: 10.1136/jmedgenet-2014-102592. Epub 2014 Dec 24.

PMID:
25539947
30.

Combined TSC1 and LMX1B mutations in a single patient.

Khalifa O, Al-Sakati N, Al-Mane K, Balobaid A, Al-Hassnan ZN.

Clin Dysmorphol. 2014 Apr;23(2):47-51. doi: 10.1097/MCD.0000000000000025.

PMID:
24477276
31.

Genomic analysis of primordial dwarfism reveals novel disease genes.

Shaheen R, Faqeih E, Ansari S, Abdel-Salam G, Al-Hassnan ZN, Al-Shidi T, Alomar R, Sogaty S, Alkuraya FS.

Genome Res. 2014 Feb;24(2):291-9. doi: 10.1101/gr.160572.113. Epub 2014 Jan 3.

32.

Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T.

Wakil SM, Ramzan K, Abuthuraya R, Hagos S, Al-Dossari H, Al-Omar R, Murad H, Chedrawi A, Al-Hassnan ZN, Finsterer J, Bohlega S.

Gene. 2014 Feb 15;536(1):217-20. doi: 10.1016/j.gene.2013.11.043. Epub 2013 Dec 4.

PMID:
24315819
33.

Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping.

Imtiaz F, Al-Mostafa A, Al-Hassnan ZN.

JIMD Rep. 2012;2:107-11. doi: 10.1007/8904_2011_57. Epub 2011 Sep 6.

34.

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.

Abu-Safieh L, Alrashed M, Anazi S, Alkuraya H, Khan AO, Al-Owain M, Al-Zahrani J, Al-Abdi L, Hashem M, Al-Tarimi S, Sebai MA, Shamia A, Ray-Zack MD, Nassan M, Al-Hassnan ZN, Rahbeeni Z, Waheeb S, Alkharashi A, Abboud E, Al-Hazzaa SA, Alkuraya FS.

Genome Res. 2013 Feb;23(2):236-47. doi: 10.1101/gr.144105.112. Epub 2012 Oct 26.

35.

A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family.

Wakil SM, Bohlega S, Hagos S, Baz B, Al Dossari H, Ramzan K, Al-Hassnan ZN.

Eur J Med Genet. 2013 Jan;56(1):43-5. doi: 10.1016/j.ejmg.2012.10.003. Epub 2012 Oct 18.

PMID:
23085305
36.

Map of autosomal recessive genetic disorders in Saudi Arabia: concepts and future directions.

Al-Owain M, Al-Zaidan H, Al-Hassnan Z.

Am J Med Genet A. 2012 Oct;158A(10):2629-40. doi: 10.1002/ajmg.a.35551. Epub 2012 Aug 17.

PMID:
22903695
37.

Identification of a novel KCNQ1 mutation in a large Saudi family with long QT syndrome: clinical consequences and preventive implications.

Shinwari ZM, Al-Hazzani A, Dzimiri N, Tulbah S, Mallawi Y, Al-Fayyadh M, Al-Hassnan ZN.

Clin Genet. 2013 Apr;83(4):370-4. doi: 10.1111/j.1399-0004.2012.01914.x. Epub 2012 Jul 10.

PMID:
22708720
38.

The phenotype of a CASQ2 mutation in a Saudi family with catecholaminergic polymorphic ventricular tachycardia.

Al-Hassnan ZN, Tulbah S, Al-Manea W, Al-Fayyadh M.

Pacing Clin Electrophysiol. 2013 May;36(5):e140-2. doi: 10.1111/j.1540-8159.2012.03434.x. Epub 2012 May 31.

PMID:
22650415
39.

A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene.

Khalifa O, Imtiaz F, Allam R, Al-Hassnan Z, Al-Hemidan A, Al-Mane K, Abuharb G, Balobaid A, Sakati N, Hyland J, Al-Owain M.

J Med Genet. 2012 Apr;49(4):246-8. doi: 10.1136/jmedgenet-2012-100783. No abstract available.

PMID:
22499343
40.

Recessively inherited severe aortic aneurysm caused by mutated EFEMP2.

Al-Hassnan ZN, Almesned AR, Tulbah S, Hakami A, Al-Omrani A, Al Sehly A, Mohammed S, Majid S, Meyer B, Al-Fayyadh M.

Am J Cardiol. 2012 Jun 1;109(11):1677-80. doi: 10.1016/j.amjcard.2012.01.394. Epub 2012 Mar 20.

PMID:
22440127
41.

In search of triallelism in Bardet-Biedl syndrome.

Abu-Safieh L, Al-Anazi S, Al-Abdi L, Hashem M, Alkuraya H, Alamr M, Sirelkhatim MO, Al-Hassnan Z, Alkuraya B, Mohamed JY, Al-Salem A, Alrashed M, Faqeih E, Softah A, Al-Hashem A, Wali S, Rahbeeni Z, Alsayed M, Khan AO, Al-Gazali L, Taschner PE, Al-Hazzaa S, Alkuraya FS.

Eur J Hum Genet. 2012 Apr;20(4):420-7. doi: 10.1038/ejhg.2011.205. Epub 2012 Feb 22.

42.

A novel X-linked disorder with developmental delay and autistic features.

Kaya N, Colak D, Albakheet A, Al-Owain M, Abu-Dheim N, Al-Younes B, Al-Zahrani J, Mukaddes NM, Dervent A, Al-Dosari N, Al-Odaib A, Kayaalp IV, Al-Sayed M, Al-Hassnan Z, Nester MJ, Al-Dosari M, Al-Dhalaan H, Chedrawi A, Gunoz H, Karakas B, Sakati N, Alkuraya FS, Gascon GG, Ozand PT.

Ann Neurol. 2012 Apr;71(4):498-508. doi: 10.1002/ana.22673. Epub 2011 Dec 28.

PMID:
22213401
43.

A novel interstitial microdeletion of 7q22.1-7q22.3 detected by array comparative genomic hybridization.

Al-Hassnan ZN, Al-Bakheet A, Abu-Dheim N, Al-Younes B, Colak D, Kaya N.

Am J Med Genet A. 2011 Dec;155A(12):3128-31. doi: 10.1002/ajmg.a.34298. Epub 2011 Oct 14. No abstract available.

PMID:
22002944
44.

Novel V97G ASAH1 mutation found in Farber disease patients: unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system.

Chedrawi AK, Al-Hassnan ZN, Al-Muhaizea M, Colak D, Al-Younes B, Albakheet A, Tulba S, Kaya N.

Brain Dev. 2012 May;34(5):400-4. doi: 10.1016/j.braindev.2011.07.003. Epub 2011 Sep 3.

PMID:
21893389
45.

Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin.

Imtiaz F, Rashed MS, Al-Mubarak B, Allam R, El-Karaksy H, Al-Hassnan Z, Al-Owain M, Al-Zaidan H, Rahbeeni Z, Qari A, Meyer BF, Al-Sayed M.

Mol Genet Metab. 2011 Dec;104(4):688-90. doi: 10.1016/j.ymgme.2011.06.019. Epub 2011 Jun 30.

PMID:
21764616
46.

Smith-Lemli-Opitz syndrome among Arabs.

Al-Owain M, Imtiaz F, Shuaib T, Edrees A, Al-Amoudi M, Sakati N, Al-Hassnan Z, Bamashmous H, Rahbeeni Z, Al-Ameer S, Faqeih E, Meyer B, Al-Hashem A, Garout W, Al-Odaib A, Rashed M, Al-Aama JY.

Clin Genet. 2012 Aug;82(2):165-72. doi: 10.1111/j.1399-0004.2011.01742.x. Epub 2011 Jul 18.

PMID:
21696385
47.

Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria.

Zaidi SH, Faiyaz-Ul-Haque M, Shuaib T, Balobaid A, Rahbeeni Z, Abalkhail H, Al-Abdullatif A, Al-Hassnan Z, Peltekova I, Al-Owain M.

Clin Genet. 2012 Jun;81(6):563-70. doi: 10.1111/j.1399-0004.2011.01690.x. Epub 2011 May 18.

PMID:
21517828
48.

Genomic and transcriptomic analyses distinguish classic Rett and Rett-like syndrome and reveals shared altered pathways.

Colak D, Al-Dhalaan H, Nester M, Albakheet A, Al-Younes B, Al-Hassnan Z, Al-Dosari M, Chedrawi A, Al-Owain M, Abudheim N, Al-Alwan L, Al-Odaib A, Ozand P, Inan MS, Kaya N.

Genomics. 2011 Jan;97(1):19-28. doi: 10.1016/j.ygeno.2010.09.004. Epub 2010 Oct 8.

49.

Subcutaneous nodules, arthropathy, coarse face, cataract and glaucoma: a newly recognized syndrome.

Al-Mayouf SM, Wakil S, Alisamail K, Al-Hassnan ZN.

Clin Dysmorphol. 2011 Jan;20(1):50-2. doi: 10.1097/MCD.0b013e32833f01ec. No abstract available.

PMID:
20802309
50.

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

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