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Items: 1 to 20 of 609

1.

Congenital hypothyroidism in Young-Simpson syndrome.

Stagi S, Bindi G, Lapi E, Giovannucci-Uzielli ML, Salti R, Chiarelli F.

J Pediatr Endocrinol Metab. 2008 Nov;21(11):1089-92.

PMID:
19189705
2.

A boy with mental retardation, blepharophimosis and hypothyroidism: a diagnostic dilemma between Young-Simpson and Ohdo syndrome.

Marques-de-faria AP, Maciel-Guerra AT, Júnior GG, Baptista MT.

Clin Dysmorphol. 2000 Jul;9(3):199-204.

PMID:
10955481
4.
5.

Young-Simpson syndrome: further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation.

Masuno M, Imaizumi K, Okada T, Adachi M, Nishimura G, Ishii T, Tachibana K, Kuroki Y.

Am J Med Genet. 1999 May 7;84(1):8-11.

PMID:
10213038
6.

A Japanese boy with Young-Simpson syndrome.

Nakamura T, Noma S.

Acta Paediatr Jpn. 1997 Aug;39(4):472-4.

PMID:
9316295
7.
8.

[Anesthetic management of a patient with Young-Simpson syndrome].

Manaka S, Yamanaka I, Tateda T, Tajiri O.

Masui. 2002 Nov;51(11):1272-4. Japanese.

PMID:
12481459
9.

Young-Simpson syndrome (YSS), a variant of del(1)(p36) syndrome?

Robinson DM, Meagher CC, Orlowski CC, Lagoe EC, Fong CT.

Am J Med Genet A. 2008 Jun 15;146A(12):1571-4. doi: 10.1002/ajmg.a.32096.

PMID:
18470891
10.

Marden-Walker syndrome in an adult.

Kotzot D, Schinzel A.

Clin Dysmorphol. 1995 Jul;4(3):260-5.

PMID:
7551165
11.

[Young-Simpson syndrome].

Masuno M.

Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):837-8. Review. Japanese. No abstract available.

PMID:
11529049
12.

Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome.

Brancati F, Bernardini L, Cavalcanti DP, Romano C, Novelli A, Dallapiccola B.

Clin Genet. 2009 Aug;76(2):210-3. doi: 10.1111/j.1399-0004.2009.01235.x. Epub 2009 Jul 29. No abstract available.

PMID:
19659891
13.

Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type - new findings with neuroimaging.

Szakszon K, Berényi E, Jakab A, Bessenyei B, Balogh E, Köbling T, Szilvássy J, Knegt AC, Oláh E.

Am J Med Genet A. 2011 Mar;155A(3):634-7. doi: 10.1002/ajmg.a.33837. Epub 2011 Feb 22.

PMID:
21344633
14.

Young-Simpson syndrome comprising transient hypothyroidism, normal growth, macular degeneration and torticolis.

Kondoh T, Kinoshita E, Moriuchi H, Niikawa N, Matsumoto T, Masuno M.

Am J Med Genet. 2000 Jan 3;90(1):85-6. No abstract available.

PMID:
10602125
15.

Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.

Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, Stevens R, Gillerot Y, Héron D, Héron B, Benzacken B, Lacombe D, Brunner H, Bitoun P.

Am J Med Genet A. 2006 Jun 15;140(12):1285-96.

PMID:
16700052
16.

De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.

Szakszon K, Salpietro C, Kakar N, Knegt AC, Oláh É, Dallapiccola B, Borck G.

Am J Med Genet A. 2013 Apr;161A(4):884-8. doi: 10.1002/ajmg.a.35848. Epub 2013 Feb 22.

PMID:
23436491
17.

Congenital ptosis and blepharophimosis in a mentally retarded girl: a new case of Ohdo syndrome?

Rasmussen M, Strømme P.

Clin Dysmorphol. 1998 Jan;7(1):61-3. Review.

PMID:
9546834
18.
19.

Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?

Titomanlio L, Bennaceur S, Bremond-Gignac D, Baumann C, Dupuy O, Verloes A.

Am J Med Genet A. 2005 Sep 1;137A(3):332-5. Review.

PMID:
16096999
20.
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