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Items: 1 to 20 of 101

1.

Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene.

Ben-Omran T, Ali R, Almureikhi M, Alameer S, Al-Saffar M, Walsh CA, Felie JM, Teebi A.

Am J Med Genet A. 2011 Nov;155A(11):2647-53. doi: 10.1002/ajmg.a.34219. Epub 2011 Sep 30.

PMID:
21964978
2.

Alopecia and hypotrichosis as characteristic findings in Woodhouse-Sakati syndrome: report of a family with mutation in the C2orf37 gene.

Nanda A, Pasternack SM, Mahmoudi H, Ishorst N, Grimalt R, Betz RC.

Pediatr Dermatol. 2014 Jan-Feb;31(1):83-7. doi: 10.1111/pde.12219. Epub 2013 Sep 9.

PMID:
24015686
3.

Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature.

Agopiantz M, Corbonnois P, Sorlin A, Bonnet C, Klein M, Hubert N, Pascal-Vigneron V, Jonveaux P, Cuny T, Leheup B, Weryha G.

J Endocrinol Invest. 2014 Jan;37(1):1-7. doi: 10.1007/s40618-013-0001-5. Epub 2014 Jan 8. Review.

PMID:
24464444
4.

C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.

Alazami AM, Schneider SA, Bonneau D, Pasquier L, Carecchio M, Kojovic M, Steindl K, de Kerdanet M, Nezarati MM, Bhatia KP, Degos B, Goh E, Alkuraya FS.

Clin Genet. 2010 Dec;78(6):585-90. doi: 10.1111/j.1399-0004.2010.01441.x.

PMID:
20507343
5.

A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin.

Habib R, Basit S, Khan S, Khan MN, Ahmad W.

Gene. 2011 Dec 15;490(1-2):26-31. doi: 10.1016/j.gene.2011.09.002. Epub 2011 Sep 22.

PMID:
21963443
6.

Woodhouse-Sakati syndrome in an Israeli-Arab family presenting with youth-onset diabetes mellitus and delayed puberty.

Rachmiel M, Bistritzer T, Hershkoviz E, Khahil A, Epstein O, Parvari R.

Horm Res Paediatr. 2011;75(5):362-6. doi: 10.1159/000323441. Epub 2011 Feb 8.

PMID:
21304230
7.

Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome.

Abdulla MC, Alazami AM, Alungal J, Koya JM, Musambil M.

J Genet. 2015 Sep;94(3):489-92. No abstract available.

8.

A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome.

Steindl K, Alazami AM, Bhatia KP, Wuerfel JT, Petersen D, Cartolari R, Neri G, Klein C, Mongiardo B, Alkuraya FS, Schneider SA.

Clin Genet. 2010 Dec;78(6):594-7. doi: 10.1111/j.1399-0004.2010.01447.x. No abstract available.

PMID:
21044051
9.

Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.

Alazami AM, Al-Saif A, Al-Semari A, Bohlega S, Zlitni S, Alzahrani F, Bavi P, Kaya N, Colak D, Khalak H, Baltus A, Peterlin B, Danda S, Bhatia KP, Schneider SA, Sakati N, Walsh CA, Al-Mohanna F, Meyer B, Alkuraya FS.

Am J Hum Genet. 2008 Dec;83(6):684-91. doi: 10.1016/j.ajhg.2008.10.018. Epub 2008 Nov 20.

10.

Woodhouse-Sakati syndrome: case report and symptoms review.

Medica I, Sepcić J, Peterlin B.

Genet Couns. 2007;18(2):227-31.

PMID:
17710875
11.

Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation.

Hdiji O, Turki E, Bouzidi N, Bouchhima I, Damak M, Bohlega S, Mhiri C.

J Mov Disord. 2016 May;9(2):120-3. doi: 10.14802/jmd.16003. Epub 2016 May 25.

13.

Dystonia in the Woodhouse Sakati syndrome: A new family and literature review.

Schneider SA, Bhatia KP.

Mov Disord. 2008 Mar 15;23(4):592-6. doi: 10.1002/mds.21886.

PMID:
18175354
14.

Woodhouse and Sakati syndrome (MIM 241080): report of a new patient.

Gül D, Ozata M, Mergen H, Odabaşi Z, Mergen M.

Clin Dysmorphol. 2000 Apr;9(2):123-5.

PMID:
10826625
15.

Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome (WSS).

Ali RH, Shah K, Nasir A, Steyaert W, Coucke PJ, Ahmad W.

Clin Genet. 2015 Nov 26. doi: 10.1111/cge.12700. [Epub ahead of print]

PMID:
26612766
16.

Three siblings with Woodhouse-Sakati syndrome in an Indian family.

Koshy G, Danda S, Thomas N, Mathews V, Viswanathan V.

Clin Dysmorphol. 2008 Jan;17(1):57-60.

PMID:
18049083
17.

Sanjad Sakati syndrome: a case series from Jordan.

Albaramki J, Akl K, Al-Muhtaseb A, Al-Shboul M, Mahmoud T, El-Khateeb M, Hamamy H.

East Mediterr Health J. 2012 May;18(5):527-31.

PMID:
22764442
18.

The syndrome of deafness-dystonia: clinical and genetic heterogeneity.

Kojovic M, Pareés I, Lampreia T, Pienczk-Reclawowicz K, Xiromerisiou G, Rubio-Agusti I, Kramberger M, Carecchio M, Alazami AM, Brancati F, Slawek J, Pirtosek Z, Valente EM, Alkuraya FS, Edwards MJ, Bhatia KP.

Mov Disord. 2013 Jun;28(6):795-803. doi: 10.1002/mds.25394. Epub 2013 Feb 15.

PMID:
23418071
19.
20.

Progressive extrapyramidal disorder with primary hypogonadism and alopecia in sibs: a new syndrome?

Devriendt K, Legius E, Fryns JP.

Am J Med Genet. 1996 Mar 1;62(1):54-7.

PMID:
8779325
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