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Items: 1 to 50 of 52

1.

Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.

Chelban V, Alsagob M, Kloth K, Chirita-Emandi A, Vandrovcova J, Maroofian R, Davagnanam I, Bakhtiari S, AlSayed MD, Rahbeeni Z, AlZaidan H, Malintan NT, Johannsen J, Efthymiou S, Ghayoor Karimiani E, Mankad K, Al-Shahrani SA, Beiraghi Toosi M, AlShammari M, Groppa S, Haridy NA, AlQuait L, Qari A, Huma R, Salih MA, Almass R, Almutairi FB, Hamad MH, Alorainy IA, Ramzan K, Imtiaz F, Puiu M, Kruer MC, Bierhals T, Wood NW, Colak D, Houlden H, Kaya N.

Eur J Neurol. 2019 Sep 11. doi: 10.1111/ene.14082. [Epub ahead of print]

PMID:
31509304
2.

Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1.

Zahoor MY, Cheema HA, Ijaz S, Anjum MN, Ramzan K, Bhinder MA.

J Pediatr Endocrinol Metab. 2019 Sep 2. pii: /j/jpem.ahead-of-print/jpem-2019-0188/jpem-2019-0188.xml. doi: 10.1515/jpem-2019-0188. [Epub ahead of print]

PMID:
31473686
3.

Woodhouse-Sakati syndrome in a family is associated with a homozygous start loss mutation in the DCAF17 gene.

Shah K, Jan A, Ahmad F, Basit S, Ramzan K, Ahmad W.

Clin Exp Dermatol. 2019 Jul 19. doi: 10.1111/ced.14046. [Epub ahead of print]

PMID:
31323129
4.

First description of the molecular and clinical characterization of hereditary factor V deficiency in Saudi Arabia: report of four novel mutations.

Al-Numair NS, Ramzan K, Saleh M, Alzahrani H, Tarawah A, Abu-Douleh E, Elbaik L, Imtiaz F, Owaidah TM.

Blood Coagul Fibrinolysis. 2019 Jul;30(5):224-232. doi: 10.1097/MBC.0000000000000828.

PMID:
31268865
5.

Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly.

Umair M, Wasif N, Albalawi AM, Ramzan K, Alfadhel M, Ahmad W, Basit S.

Mol Genet Genomic Med. 2019 Jul;7(7):e00627. doi: 10.1002/mgg3.627. Epub 2019 May 21.

6.

An atypical pulmonary fibrosis is associated with co-inheritance of mutations in the calcium binding protein genes S100A3 and S100A13.

Al-Mutairy EA, Imtiaz FA, Khalid M, Al Qattan S, Saleh S, Mahmoud LM, Al-Saif MM, Al-Haj L, Al-Enazi A, AlJebreen AM, Mohammed SF, Mobeireek AF, Alkattan K, Chisti MA, Luzina IG, Al-Owain M, Weheba I, Abdelsayed AM, Ramzan K, Janssen LJ, Conca W, Alaiya A, Collison KS, Meyer BF, Atamas SP, Khabar KS, Hasday JD, Al-Mohanna F.

Eur Respir J. 2019 Jul 18;54(1). pii: 1802041. doi: 10.1183/13993003.02041-2018. Print 2019 Jul.

7.

Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene.

Wakil SM, Monies D, Hagos S, Al-Ajlan F, Finsterer J, Al Qahtani A, Ramzan K, Al Humaidy R, Al-Muhaizea MA, Meyer B, Bohlega SA.

Case Rep Genet. 2018 Dec 12;2018:9468049. doi: 10.1155/2018/9468049. eCollection 2018.

8.

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
9.

Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families.

Ahmad F, Shah K, Umair M, Jan A, Irfanullah, Khan S, Muhammad D, Basit S, Wakil SM, Ramzan K, Ahmad W.

Clin Exp Dermatol. 2018 Aug;43(6):752-755. doi: 10.1111/ced.13610. Epub 2018 May 23. No abstract available.

PMID:
29797489
10.

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.

11.

Utility of whole exome sequencing in the diagnosis of Usher syndrome: Report of novel compound heterozygous MYO7A mutations.

Ramzan K, Al-Owain M, Huma R, Al-Hazzaa SAF, Al-Ageel S, Imtiaz F, Al-Sayed M.

Int J Pediatr Otorhinolaryngol. 2018 May;108:17-21. doi: 10.1016/j.ijporl.2018.02.016. Epub 2018 Feb 14.

PMID:
29605349
12.

XPC gene mutations in families with xeroderma pigmentosum from Pakistan; prevalent founder effect.

Ijaz A, Basit S, Gul A, Batool L, Hussain A, Afzal S, Ramzan K, Ahmad J, Wali A.

Congenit Anom (Kyoto). 2019 Jan;59(1):18-21. doi: 10.1111/cga.12281. Epub 2018 Apr 15.

PMID:
29569758
13.

Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report.

Al-Qattan MM, Andejani DF, Sakati NA, Ramzan K, Imtiaz F.

BMC Med Genet. 2018 Jan 30;19(1):18. doi: 10.1186/s12881-018-0531-y.

14.

A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family.

Khan AK, Muhammad N, Khan SA, Ullah W, Nasir A, Afzal S, Ramzan K, Basit S, Khan S.

Ann Hum Genet. 2018 May;82(3):171-176. doi: 10.1111/ahg.12239. Epub 2017 Dec 28.

PMID:
29282707
15.

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.

Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Barić I, Bubshait DK, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, Freisinger P, Garcia Silva MT, Grunewald S, Haack TB, van Hasselt PM, Hikmat O, Hörster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr JA, McClean P, De Meirleir L, Naess K, Ngu LH, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor RW, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers RA, de Brouwer AP, Wortmann SB.

Ann Neurol. 2017 Dec;82(6):1004-1015. doi: 10.1002/ana.25110.

16.

Genetic analysis of fructose-1,6-bisphosphatase (FBPase) deficiency in nine consanguineous Pakistani families.

Ijaz S, Zahoor MY, Imran M, Ramzan K, Bhinder MA, Shakeel H, Iqbal M, Aslam A, Shehzad W, Cheema HA, Rehman H.

J Pediatr Endocrinol Metab. 2017 Oct 26;30(11):1203-1210. doi: 10.1515/jpem-2017-0188.

PMID:
29016355
17.

Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability.

van Spronsen FJ, Himmelreich N, Rüfenacht V, Shen N, Vliet DV, Al-Owain M, Ramzan K, Alkhalifi SM, Lunsing RJ, Heiner-Fokkema RM, Rassi A, Gemperle-Britschgi C, Hoffmann GF, Blau N, Thöny B.

J Med Genet. 2017 Aug 9. pii: jmedgenet-2017-104875. doi: 10.1136/jmedgenet-2017-104875. [Epub ahead of print]

PMID:
28794131
18.

SLC5A1 Mutations in Saudi Arabian Patients With Congenital Glucose-Galactose Malabsorption.

Al-Suyufi Y, ALSaleem K, Al-Mehaidib A, Banemai M, Aldekhail WM, Al-Muhandes A, Mohammed M, Allam R, Jambi A, Ramzan K, Imtiaz F.

J Pediatr Gastroenterol Nutr. 2018 Feb;66(2):250-252. doi: 10.1097/MPG.0000000000001694.

PMID:
28753187
19.

Clinical, Endocrine, and Molecular Genetic Analysis of a Large Cohort of Saudi Arabian Patients with Laron Syndrome.

Al-Ashwal AA, Al-Sagheir A, Ramzan K, Al-Owain M, Allam R, Qari A, Al-Numair NS, Imtiaz F.

Horm Res Paediatr. 2017;88(2):119-126. doi: 10.1159/000475991. Epub 2017 Jul 25.

PMID:
28743110
20.

A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia.

Alharby E, Albalawi AM, Nasir A, Alhijji SA, Mahmood A, Ramzan K, Abdusamad F, Aljohani A, Abdelsalam O, Eldardear A, Basit S.

Clin Genet. 2017 Dec;92(6):579-586. doi: 10.1111/cge.13051. Epub 2017 Sep 15.

PMID:
28542722
21.

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.

22.

Juvenile hemochromatosis and hepatocellular carcinoma in a patient with a novel mutation in the HJV gene.

Ramzan K, Imtiaz F, Al-Ashgar HI, AlSayed M, Sulaiman RA.

Eur J Med Genet. 2017 Jun;60(6):308-311. doi: 10.1016/j.ejmg.2017.03.011. Epub 2017 Mar 28.

PMID:
28363629
23.

Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss.

Ramzan K, Bin-Abbas B, Al-Jomaa L, Allam R, Al-Owain M, Imtiaz F.

BMC Endocr Disord. 2017 Mar 16;17(1):17. doi: 10.1186/s12902-017-0164-8.

24.

A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly.

Hashmi JA, Al-Harbi KM, Ramzan K, Albalawi AM, Mehmood A, Samman MI, Basit S.

Ann Saudi Med. 2016 Nov-Dec;36(6):391-396.

25.

Novel homozygous sequence variants in the CDH3 gene encoding P-cadherin underlying hypotrichosis with juvenile macular dystrophy in consanguineous families.

Ahmad F, Ali RH, Muhammad D, Nasir A, Umair M, Wakil SM, Ramzan K, Basit S, Ahmad W.

Eur J Dermatol. 2016 Dec 1;26(6):610-612. doi: 10.1684/ejd.2016.2848. No abstract available.

PMID:
27456782
26.

Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden.

Abouelhoda M, Sobahy T, El-Kalioby M, Patel N, Shamseldin H, Monies D, Al-Tassan N, Ramzan K, Imtiaz F, Shaheen R, Alkuraya FS.

Genet Med. 2016 Dec;18(12):1244-1249. doi: 10.1038/gim.2016.37. Epub 2016 Apr 28.

PMID:
27124789
27.

Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation.

Ijaz S, Zahoor MY, Imran M, Afzal S, Bhinder MA, Ullah I, Cheema HA, Ramzan K, Shehzad W.

J Pediatr Endocrinol Metab. 2016 Mar;29(3):327-32. doi: 10.1515/jpem-2015-0289.

PMID:
26565546
28.

Alterations in the RB1 gene in Pakistani patients with retinoblastoma using direct sequencing analysis.

Kalsoom S, Wasim M, Afzal S, Shahzad MS, Ramzan S, Awan AR, Anjum AA, Ramzan K.

Mol Vis. 2015 Sep 17;21:1085-92. eCollection 2015.

29.

Xq21.31-q21.32 duplication underlies intellectual disability in a large family with five affected males.

Basit S, Malibari OI, Al-Balawi AM, Afzal S, Eldardear AE, Ramzan K.

Am J Med Genet A. 2016 Jan;170A(1):87-93. doi: 10.1002/ajmg.a.37372. Epub 2015 Sep 11.

PMID:
26358363
30.

A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia.

Jan A, Basit S, Wakil SM, Ramzan K, Ahmad W.

Arch Dermatol Res. 2015 Nov;307(9):793-801. doi: 10.1007/s00403-015-1590-y. Epub 2015 Jul 7.

PMID:
26148547
31.

Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1-q32.2.

Jan A, Basit S, Wakil SM, Ramzan K, Ahmad W.

J Dermatol Sci. 2015 Aug;79(2):173-5. doi: 10.1016/j.jdermsci.2015.04.012. Epub 2015 May 6. No abstract available.

PMID:
25999149
32.

Variation in DNAH1 may contribute to primary ciliary dyskinesia.

Imtiaz F, Allam R, Ramzan K, Al-Sayed M.

BMC Med Genet. 2015 Mar 17;16:14. doi: 10.1186/s12881-015-0162-5.

33.

Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature.

Khalifa O, Al-Sahlawi Z, Imtiaz F, Ramzan K, Allam R, Al-Mostafa A, Abdel-Fattah M, Abuharb G, Nester M, Verloes A, Al-Zaidan H.

Eur J Med Genet. 2015 May;58(5):293-9. doi: 10.1016/j.ejmg.2014.12.008. Epub 2015 Feb 13. Review.

PMID:
25682901
34.

Association of vitamin D receptor gene polymorphisms with prostate cancer risk in the Pakistani population.

Yousaf N, Afzal S, Hayat T, Shah J, Ahmad N, Abbasi R, Ramzan K, Jan R, Khan I, Ahmed J, Siraj S.

Asian Pac J Cancer Prev. 2014;15(22):10009-13.

35.

Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability.

AlAsiri S, Basit S, Wood-Trageser MA, Yatsenko SA, Jeffries EP, Surti U, Ketterer DM, Afzal S, Ramzan K, Faiyaz-Ul Haque M, Jiang H, Trakselis MA, Rajkovic A.

J Clin Invest. 2015 Jan;125(1):258-62. doi: 10.1172/JCI78473. Epub 2014 Dec 1.

36.

Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings.

Khalifa O, Imtiaz F, Ramzan K, Allam R, Hemidan AA, Faqeih E, Abuharb G, Balobaid A, Sakati N, Owain MA.

Am J Med Genet A. 2014 Oct;164A(10):2601-6. doi: 10.1002/ajmg.a.36681. Epub 2014 Jul 29.

PMID:
25073711
37.

ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population.

Ramzan K, Taibah K, Tahir AI, Al-Tassan N, Berhan A, Khater AM, Al-Hazzaa SA, Al-Owain M, Imtiaz F.

Eur J Med Genet. 2014 May-Jun;57(6):253-8. doi: 10.1016/j.ejmg.2014.04.004. Epub 2014 Apr 21.

PMID:
24768815
38.

COL4A4-related nephropathy caused by a novel mutation in a large consanguineous Saudi family.

Ramzan K, Imtiaz F, Taibah K, Alnufiee S, Akhtar M, Al-Hazzaa SA, Al-Owain M.

Int J Pediatr Otorhinolaryngol. 2014 Mar;78(3):427-32. doi: 10.1016/j.ijporl.2013.12.008. Epub 2013 Dec 18.

PMID:
24398087
39.

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
40.

Novel B4GALNT1 mutations in a complicated form of hereditary spastic paraplegia.

Wakil SM, Monies DM, Ramzan K, Hagos S, Bastaki L, Meyer BF, Bohlega S.

Clin Genet. 2014 Nov;86(5):500-1. doi: 10.1111/cge.12312. Epub 2013 Nov 27. No abstract available.

PMID:
24283893
41.

Homozygosity mapping identifies a novel GIPC3 mutation causing congenital nonsyndromic hearing loss in a Saudi family.

Ramzan K, Al-Owain M, Allam R, Berhan A, Abuharb G, Taibah K, Imtiaz F.

Gene. 2013 May 25;521(1):195-9. doi: 10.1016/j.gene.2013.03.042. Epub 2013 Mar 16.

PMID:
23510777
42.

Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia.

Al-Hashmi N, Imtiaz F, Ramzan K, Faden M, Shuaib T, Al-Otaibi L, Al-Hemidan A, Al-Owain M.

Clin Dysmorphol. 2013 Jan;22(1):39-41. doi: 10.1097/MCD.0b013e32835c297e. No abstract available.

PMID:
23188137
43.

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
44.

USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis.

Imtiaz F, Taibah K, Bin-Khamis G, Kennedy S, Hemidan A, Al-Qahtani F, Tabbara K, Al Mubarak B, Ramzan K, Meyer BF, Al-Owain M.

Mol Vis. 2012;18:1885-94. Epub 2012 Jul 12.

45.

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity.

Khalak HG, Wakil SM, Imtiaz F, Ramzan K, Baz B, Almostafa A, Hagos S, Alzahrani F, Abu-Dhaim N, Abu Safieh L, Al-Jbali L, Al-Hamed MS, Monies D, Aldahmesh M, Al-Dosari MS, Kaya N, Shamseldin H, Shaheen R, Al-Rashed M, Hashem M, Al-Tassan N, Meyer B, Alazami AM, Alkuraya FS.

Genet Med. 2012 May;14(5):515-9. doi: 10.1038/gim.2011.28. Epub 2012 Jan 5.

PMID:
22241088
46.

A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population.

Imtiaz F, Taibah K, Ramzan K, Bin-Khamis G, Kennedy S, Al-Mubarak B, Trabzuni D, Allam R, Al-Mostafa A, Sogaty S, Al-Shaikh AH, Bamukhayyar SS, Meyer BF, Al-Owain M.

BMC Med Genet. 2011 Jul 4;12:91. doi: 10.1186/1471-2350-12-91.

47.

Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3).

Alsmadi O, Meyer BF, Alkuraya F, Wakil S, Alkayal F, Al-Saud H, Ramzan K, Al-Sayed M.

Eur J Hum Genet. 2009 Jan;17(1):14-21. doi: 10.1038/ejhg.2008.141. Epub 2008 Aug 13.

48.

Tricellulin is a tight-junction protein necessary for hearing.

Riazuddin S, Ahmed ZM, Fanning AS, Lagziel A, Kitajiri S, Ramzan K, Khan SN, Chattaraj P, Friedman PL, Anderson JM, Belyantseva IA, Forge A, Riazuddin S, Friedman TB.

Am J Hum Genet. 2006 Dec;79(6):1040-51. Epub 2006 Oct 31.

49.

A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13-p12.

Shaikh RS, Ramzan K, Nazli S, Sattar S, Khan SN, Riazuddin S, Ahmed ZM, Friedman TB, Riazuddin S.

Am J Med Genet A. 2005 Nov 1;138(4):392-5. No abstract available.

50.

DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1.

Ahmad J, Khan SN, Khan SY, Ramzan K, Riazuddin S, Ahmed ZM, Wilcox ER, Friedman TB, Riazuddin S.

Hum Genet. 2005 Apr;116(5):407-12. Epub 2005 Feb 12.

PMID:
15711797

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