Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 449

1.
2.

A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities.

Woodhouse NJ, Sakati NA.

J Med Genet. 1983 Jun;20(3):216-9.

PMID:
6876115
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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
[PubMed - indexed for MEDLINE]
4.

Woodhouse-Sakati syndrome: case report and symptoms review.

Medica I, Sepcić J, Peterlin B.

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

PMID:
17710875
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

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.

PMID:
19026396
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness.

Amor DJ, Delatycki MB, Gardner RJ, Storey E.

Am J Med Genet. 2001 Feb 15;99(1):29-33. Review.

PMID:
11170090
[PubMed - indexed for MEDLINE]
8.

Familial insulin resistant diabetes associated with acanthosis nigricans, polycystic ovaries, hypogonadism, pigmentary retinopathy, labyrinthine deafness, and mental retardation.

Boor R, Herwig J, Schrezenmeir J, Pontz BF, Schönberger W.

Am J Med Genet. 1993 Mar 1;45(5):649-53.

PMID:
8456839
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

Primary hypogonadism and partial alopecia in three sibs with müllerian hypoplasia in the affected females.

Al-Awadi SA, Farag TI, Teebi AS, Naguib K, el-Khalifa MY, Kelani Y, Al-Ansari A, Schimke RN.

Am J Med Genet. 1985 Nov;22(3):619-22.

PMID:
4061495
[PubMed - indexed for MEDLINE]
11.

Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3.

Jenkinson EM, Kingston H, Urquhart J, Khan N, Melville A, Swinton M, Crow YJ, Davis JR, Trump D, Newman WG.

Am J Med Genet A. 2011 Dec;155A(12):2910-5. doi: 10.1002/ajmg.a.34292. Epub 2011 Oct 14.

PMID:
22002932
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

A newly recognized neuroectodermal syndrome of familial alopecia, anosmia, deafness, and hypogonadism.

Johnson VP, McMillin JM, Aceto T Jr, Bruins G.

Am J Med Genet. 1983 Jul;15(3):497-506.

PMID:
6881216
[PubMed - indexed for MEDLINE]
14.

A new familial syndrome characterized by pigmentary retinopathy, hypogonadism, mental retardation, nerve deafness and glucose intolerance.

Edwards JA, Sethi PK, Scoma AJ, Bannerman RM, Frohman LA.

Am J Med. 1976 Jan;60(1):23-32.

PMID:
1251844
[PubMed - indexed for MEDLINE]
15.

Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs.

Hoffman JD, Jacobson Z, Young TL, Marshall JD, Kaplan P.

Am J Med Genet A. 2005 May 15;135(1):96-8.

PMID:
15809999
[PubMed - indexed for MEDLINE]
16.

Familial pediatric rapidly progressive extrapyramidal syndrome: is it Hallervorden-Spatz disease?

Chakravarty A, Mukherjee A, Sen A.

Pediatr Neurol. 2003 Aug;29(2):170-2.

PMID:
14580665
[PubMed - indexed for MEDLINE]
17.

Aicardi-Goutières syndrome: an expanding phenotype.

McEntagart M, Kamel H, Lebon P, King MD.

Neuropediatrics. 1998 Jun;29(3):163-7.

PMID:
9706629
[PubMed - indexed for MEDLINE]
18.

Spinocerebellar ataxia and hypergonadotropic hypogonadism associated with familial sensorineural hearing loss.

Georgopoulos NA, Papapetropoulos S, Chroni E, Papadeas ES, Dimopoulos PA, Kyriazopoulout V, Davis MB, Eunson L, Kourounis G, Tzingounist VA.

Gynecol Endocrinol. 2004 Aug;19(2):105-10.

PMID:
15624272
[PubMed - indexed for MEDLINE]
19.

Ataxia, deafness, leukodystrophy: inherited disorder of the white matter in three related patients.

Leuzzi V, Rinna A, Gallucci M, Di Capua M, Dionisi-Vici C, Longo D, Bertini E.

Neurology. 2000 Jun 27;54(12):2325-8.

PMID:
10881263
[PubMed - indexed for MEDLINE]
20.

Aicardi-Goutières syndrome: a genetic microangiopathy?

Barth PG, Walter A, van Gelderen I.

Acta Neuropathol. 1999 Aug;98(2):212-6.

PMID:
10442562
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk