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Results: 13

Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.

Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S, Murdock DM, Jiang MM, Lammer EJ, Enns GM, Rhead WJ, Rowland J, Robertson SP, Cormier-Daire V, Bainbridge MN, Yang XJ, Gingras MC, Gibbs RA, Rosenblatt DS, Majewski J, Lee BH.

Am J Hum Genet. 2012 Feb 10;90(2):282-9. doi: 10.1016/j.ajhg.2011.11.023. Epub 2012 Jan 19.

PMID:: 22265014; [PubMed - indexed for MEDLINE]

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Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

Clayton-Smith J, O'Sullivan J, Daly S, Bhaskar S, Day R, Anderson B, Voss AK, Thomas T, Biesecker LG, Smith P, Fryer A, Chandler KE, Kerr B, Tassabehji M, Lynch SA, Krajewska-Walasek M, McKee S, Smith J, Sweeney E, Mansour S, Mohammed S, Donnai D, Black G.

Am J Hum Genet. 2011 Nov 11;89(5):675-81. doi: 10.1016/j.ajhg.2011.10.008.

PMID:: 22077973; [PubMed - indexed for MEDLINE]

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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; [PubMed - indexed for MEDLINE]

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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; [PubMed - indexed for MEDLINE]

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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; [PubMed - indexed for MEDLINE]

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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; [PubMed - indexed for MEDLINE]

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A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome.

Day R, Beckett B, Donnai D, Fryer A, Heidenblad M, Howard P, Kerr B, Mansour S, Maye U, McKee S, Mohammed S, Sweeney E, Tassabehji M, de Vries BB, Clayton-Smith J.

Clin Genet. 2008 Nov;74(5):434-44. doi: 10.1111/j.1399-0004.2008.01087.x. Epub 2008 Sep 16.

PMID:: 18798845; [PubMed - indexed for MEDLINE]

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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; [PubMed - indexed for MEDLINE]

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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; [PubMed - indexed for MEDLINE]

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10.

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; [PubMed - indexed for MEDLINE]

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11.

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; [PubMed - indexed for MEDLINE]

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12.

A Japanese boy with Young-Simpson syndrome.

Nakamura T, Noma S.

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

PMID:: 9316295; [PubMed - indexed for MEDLINE]

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13.

Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome).

Bonthron DT, Barlow KM, Burt AM, Barr DG.

J Med Genet. 1993 Mar;30(3):255-6.

PMID:: 8474111; [PubMed - indexed for MEDLINE]

Free PMC Article

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3 free full-text articles in PubMed Central

Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. [Am J Hum Genet. 2012]
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.
Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S, Murdock DM, Jiang MM, Lammer EJ, Enns GM, et al. Am J Hum Genet. 2012 Feb 10; 90(2):282-9. Epub 2012 Jan 19.
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. [Am J Hum Genet. 2011]
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.
Clayton-Smith J, O'Sullivan J, Daly S, Bhaskar S, Day R, Anderson B, Voss AK, Thomas T, Biesecker LG, Smith P, et al. Am J Hum Genet. 2011 Nov 11; 89(5):675-81.
Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome). [J Med Genet. 1993]
Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome).
Bonthron DT, Barlow KM, Burt AM, Barr DG. J Med Genet. 1993 Mar; 30(3):255-6.

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((Say[TIAB]) AND (Ohdo[TIAB]) AND (Biesecker[TIAB])) OR (Young-Si... (13)
((Say[TIAB]) AND (Ohdo[TIAB]) AND (Biesecker[TIAB])) OR (Young-Simpson syndrome[TIAB]) OR ((SBBYS[TIAB]) OR (SBBYSS[TIAB])) AND english[la] AND human[mh]
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Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascu...
Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.
Am J Hum Genet. 2007 Nov ;81(5):1098-103. Epub 2007 Sep 26 .

PubMed
Chondroitinase ABC treatment enhances synaptogenesis between transplant and host...
Chondroitinase ABC treatment enhances synaptogenesis between transplant and host neurons in model of retinal degeneration.
Cell Transplant. 2007 ;16(5):493-503.

PubMed
Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpec...
Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis.
Hum Mutat. 2007 Nov ;28(11):1074-83.

PubMed
Madeline 2.0 PDE: a new program for local and web-based pedigree drawing.
Madeline 2.0 PDE: a new program for local and web-based pedigree drawing.
Bioinformatics. 2007 Jul 15 ;23(14):1854-6. Epub 2007 May 8 .

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