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Items: 1 to 20 of 108

1.

A Japanese boy with Young-Simpson syndrome.

Nakamura T, Noma S.

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

PMID:
9316295
2.
4.

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
5.
6.
7.

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
8.

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
9.

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
10.

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
11.

The Dubowitz syndrome.

Küster W, Majewski F.

Eur J Pediatr. 1986 Apr;144(6):574-8.

PMID:
3709570
12.

Mutations in MED12 cause X-linked Ohdo syndrome.

Vulto-van Silfhout AT, de Vries BB, van Bon BW, Hoischen A, Ruiterkamp-Versteeg M, Gilissen C, Gao F, van Zwam M, Harteveld CL, van Essen AJ, Hamel BC, Kleefstra T, Willemsen MA, Yntema HG, van Bokhoven H, Brunner HG, Boyer TG, de Brouwer AP.

Am J Hum Genet. 2013 Mar 7;92(3):401-6. doi: 10.1016/j.ajhg.2013.01.007. Epub 2013 Feb 7.

13.
14.

A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing.

Yilmaz R, Beleza-Meireles A, Price S, Oliveira R, Kubisch C, Clayton-Smith J, Szakszon K, Borck G.

Am J Med Genet A. 2015 Dec;167A(12):3006-10. doi: 10.1002/ajmg.a.37343. Epub 2015 Sep 3.

PMID:
26334766
15.

[Young-Simpson syndrome].

Masuno M.

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

PMID:
11529049
16.

Autism spectrum disorder in Say-Barber-Biesecker-Young-Simpson syndrome.

Merritt J, Hart JC, LeGrow TL.

BMJ Case Rep. 2017 Jul 14;2017. pii: bcr-2017-219930. doi: 10.1136/bcr-2017-219930.

PMID:
28710305
17.
18.

Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome.

Radvanszky J, Hyblova M, Durovcikova D, Hikkelova M, Fiedler E, Kadasi L, Turna J, Minarik G, Szemes T.

Clin Genet. 2017 Feb;91(2):339-343. doi: 10.1111/cge.12840. Epub 2016 Sep 29.

PMID:
27452416
19.

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
20.

The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings.

Dentici ML, Mingarelli R, Dallapiccola B.

Am J Med Genet A. 2011 Mar;155A(3):459-65. doi: 10.1002/ajmg.a.33642. Epub 2011 Feb 22.

PMID:
21567902

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