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Items: 25

1.

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses.

Spencer S, Köstel Bal S, Egner W, Lango Allen H, Raza SI, Ma CA, Gürel M, Zhang Y, Sun G, Sabroe RA, Greene D, Rae W, Shahin T, Kania K, Ardy RC, Thian M, Staples E, Pecchia-Bekkum A, Worrall WPM, Stephens J, Brown M, Tuna S, York M, Shackley F, Kerrin D, Sargur R, Condliffe A, Tipu HN, Kuehn HS, Rosenzweig SD, Turro E, Tavaré S, Thrasher AJ, Jodrell DI, Smith KGC, Boztug K, Milner JD, Thaventhiran JED.

J Exp Med. 2019 Jun 24. pii: jem.20190344. doi: 10.1084/jem.20190344. [Epub ahead of print]

PMID:
31235509
2.

Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance.

Liaqat K, Schrauwen I, Raza SI, Lee K, Hussain S, Chakchouk I, Nasir A, Acharya A, Abbe I, Umair M, Ansar M, Ullah I, Shah K; University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Ahmad W, Leal SM.

J Hum Genet. 2019 Feb;64(2):153-160. doi: 10.1038/s10038-018-0542-8. Epub 2018 Nov 30.

PMID:
30498240
3.

Bladder diverticuli following injection of onabotulinum toxin A in a patient with multiple sclerosis and autosomal dominant polycystic kidney disease.

Raza SI, Behzadi AH, Blumenfeld JD, Girardi SK, Prince MR.

Radiol Case Rep. 2018 Jun 1;13(5):1021-1024. doi: 10.1016/j.radcr.2018.04.006. eCollection 2018 Oct.

4.

Applications of PET/CT and PET/MR Imaging in Primary Bone Malignancies.

Behzadi AH, Raza SI, Carrino JA, Kosmas C, Gholamrezanezhad A, Basques K, Matcuk GR Jr, Patel J, Jadvar H.

PET Clin. 2018 Oct;13(4):623-634. doi: 10.1016/j.cpet.2018.05.012. Epub 2018 Aug 17. Review.

PMID:
30219192
5.

Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux.

Irfanullah, Zeb A, Shinwari N, Shah K, Gilani SZT, Khan S, Lee KW, Raza SI, Hussain S, Liaqat K, Ahmad W.

Int J Biochem Cell Biol. 2018 Sep;102:76-86. doi: 10.1016/j.biocel.2018.07.004. Epub 2018 Jul 18.

PMID:
30016695
6.

Role of gut microbiota against calcium oxalate.

Sadaf H, Raza SI, Hassan SW.

Microb Pathog. 2017 Aug;109:287-291. doi: 10.1016/j.micpath.2017.06.009. Epub 2017 Jun 15. Review.

PMID:
28624518
7.

Autosomal recessive transmission of a rare HOXC13 variant causes pure hair and nail ectodermal dysplasia.

Mehmood S, Raza SI, Van Bokhoven H, Ahmad W.

Clin Exp Dermatol. 2017 Jul;42(5):585-589. doi: 10.1111/ced.13115. Epub 2017 May 22. No abstract available.

PMID:
28543635
8.

Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2.

Santos-Cortez RL, Faridi R, Rehman AU, Lee K, Ansar M, Wang X, Morell RJ, Isaacson R, Belyantseva IA, Dai H, Acharya A, Qaiser TA, Muhammad D, Ali RA, Shams S, Hassan MJ, Shahzad S, Raza SI, Bashir ZE, Smith JD, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics, Riazuddin S, Ahmad W, Friedman TB, Leal SM.

Am J Hum Genet. 2016 Feb 4;98(2):331-8. doi: 10.1016/j.ajhg.2015.12.004. Epub 2016 Jan 21.

9.

Disease causing homozygous variants in the human hairless gene.

Mehmood S, Jan A, Raza SI, Ahmad F, Younus M, Irfanullah, Shahi S, Ayub M, Khan S, Ahmad W.

Int J Dermatol. 2016 Sep;55(9):977-81. doi: 10.1111/ijd.13109. Epub 2015 Dec 18.

PMID:
26680117
10.

Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome.

Aziz A, Raza SI, Ali S, Ahmad W.

Clin Dysmorphol. 2016 Jan;25(1):1-6. doi: 10.1097/MCD.0000000000000104.

PMID:
26580685
11.

Genetic analysis of Xp22.3 micro-deletions in seventeen families segregating isolated form of X-linked ichthyosis.

Ali RH, Mahmood S, Raza SI, Aziz A, Irfanullah, Naqvi SK, Wasif N, Ansar M, Ahmad W, Shah SH, Khan BT, Zaman Q, Gul A, Wali A, Ali G, Khan S, Khisroon M, Basit S.

J Dermatol Sci. 2015 Dec;80(3):214-7. doi: 10.1016/j.jdermsci.2015.09.007. Epub 2015 Sep 28. No abstract available.

PMID:
26481779
12.

In silico analysis of SIGMAR1 variant (rs4879809) segregating in a consanguineous Pakistani family showing amyotrophic lateral sclerosis without frontotemporal lobar dementia.

Ullah MI, Ahmad A, Raza SI, Amar A, Ali A, Bhatti A, John P, Mohyuddin A, Ahmad W, Hassan MJ.

Neurogenetics. 2015 Oct;16(4):299-306. doi: 10.1007/s10048-015-0453-1. Epub 2015 Jul 24.

PMID:
26205306
13.

A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair.

Ansar M, Raza SI, Lee K, Irfanullah, Shahi S, Acharya A, Dai H, Smith JD, Shendure J, Bamshad MJ, Nickerson DA, Santos-Cortez RL, Ahmad W, Leal SM.

J Med Genet. 2015 Oct;52(10):676-80. doi: 10.1136/jmedgenet-2015-103255. Epub 2015 Jul 9.

14.

A novel homozygous nonsense mutation in the PVRL4 gene and expansion of clinical spectrum of EDSS1.

Raza SI, Nasser Dar R, Shah AA, Ahmad W.

Ann Hum Genet. 2015 Mar;79(2):92-8. doi: 10.1111/ahg.12094. Epub 2014 Dec 22. Erratum in: Ann Hum Genet. 2018 Jan;82(1):52.

15.

A novel deletion mutation in the DSG4 gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families.

Ullah A, Raza SI, Ali RH, Naveed AK, Jan A, Rizvi SD, Satti R, Ahmad W.

Clin Exp Dermatol. 2015 Jan;40(1):78-84. doi: 10.1111/ced.12457. Epub 2014 Sep 23.

PMID:
25251037
16.

In silico analysis of missense mutations in LPAR6 reveals abnormal phospholipid signaling pathway leading to hypotrichosis.

Raza SI, Muhammad D, Jan A, Ali RH, Hassan M, Ahmad W, Rashid S.

PLoS One. 2014 Aug 13;9(8):e104756. doi: 10.1371/journal.pone.0104756. eCollection 2014.

17.

A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity.

Mir H, Raza SI, Touseef M, Memon MM, Khan MN, Jaffar S, Ahmad W.

BMC Med Genet. 2014 Feb 26;15:25. doi: 10.1186/1471-2350-15-25.

18.

Cut-off values of anthropometric indices to determine insulin resistance in Pakistani adults.

Nadeem A, Naveed AK, Hussain MM, Raza SI.

J Pak Med Assoc. 2013 Oct;63(10):1220-5.

19.

Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

Rehman AU, Santos-Cortez RL, Morell RJ, Drummond MC, Ito T, Lee K, Khan AA, Basra MA, Wasif N, Ayub M, Ali RA, Raza SI; University of Washington Center for Mendelian Genomics, Nickerson DA, Shendure J, Bamshad M, Riazuddin S, Billington N, Khan SN, Friedman PL, Griffith AJ, Ahmad W, Riazuddin S, Leal SM, Friedman TB.

Am J Hum Genet. 2014 Jan 2;94(1):144-52. doi: 10.1016/j.ajhg.2013.12.004.

20.

A novel WDR62 mutation causes primary microcephaly in a Pakistani family.

Memon MM, Raza SI, Basit S, Kousar R, Ahmad W, Ansar M.

Mol Biol Rep. 2013 Jan;40(1):591-5. doi: 10.1007/s11033-012-2097-7. Epub 2012 Oct 14.

PMID:
23065275
21.

A novel missense mutation in the gene FZD6 underlies autosomal recessive nail dysplasia.

Raza SI, Muhammad N, Khan S, Ahmad W.

Br J Dermatol. 2013 Feb;168(2):422-5. doi: 10.1111/j.1365-2133.2012.11203.x. Epub 2012 Oct 5.

PMID:
22861124
22.

Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families.

Tariq M, Ayub M, Jelani M, Basit S, Naz G, Wasif N, Raza SI, Naveed AK, ullah Khan S, Azeem Z, Yasinzai M, Wali A, Ali G, Chishti MS, Ahmad W.

Br J Dermatol. 2009 May;160(5):1006-10. doi: 10.1111/j.1365-2133.2009.09046.x. Epub 2009 Mar 9.

PMID:
19292720
23.

A novel deletion mutation in the phospholipase H (LIPH) gene in a consanguineous Pakistani family with autosomal recessive hypotrichosis (LAH2).

Kamran-ul-Hassan Naqvi S, Raza SI, Naveed AK, John P, Ahmad W.

Br J Dermatol. 2009 Jan;160(1):194-6. doi: 10.1111/j.1365-2133.2008.08822.x. Epub 2008 Sep 15. No abstract available.

PMID:
18795930
24.

A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis.

Ali G, Chishti MS, Raza SI, John P, Ahmad W.

Hum Genet. 2007 May;121(3-4):319-25. Epub 2007 Feb 27.

PMID:
17333281
25.

A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly.

Gul A, Hassan MJ, Hussain S, Raza SI, Chishti MS, Ahmad W.

J Hum Genet. 2006;51(9):760-4. Epub 2006 Aug 10.

PMID:
16900296

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