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Items: 1 to 20 of 374

1.

Kabuki syndrome is not caused by an 8p duplication: a cytogenetic study in 20 patients.

Engelen JJ, Loneus WH, Vaes-Peeters G, Schrander-Stumpel CT.

Am J Med Genet A. 2005 Jan 30;132A(3):276-7.

PMID:
15578614
2.

Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome.

Sanlaville D, Genevieve D, Bernardin C, Amiel J, Baumann C, de Blois MC, Cormier-Daire V, Gerard B, Gerard M, Le Merrer M, Parent P, Prieur F, Prieur M, Raoul O, Toutain A, Verloes A, Viot G, Romana S, Munnich A, Lyonnet S, Vekemans M, Turleau C.

Eur J Hum Genet. 2005 May;13(5):690-3. Review.

3.

Further delineation of Kabuki syndrome in 48 well-defined new individuals.

Armstrong L, Abd El Moneim A, Aleck K, Aughton DJ, Baumann C, Braddock SR, Gillessen-Kaesbach G, Graham JM Jr, Grebe TA, Gripp KW, Hall BD, Hennekam R, Hunter A, Keppler-Noreuil K, Lacombe D, Lin AE, Ming JE, Kokitsu-Nakata NM, Nikkel SM, Philip N, Raas-Rothschild A, Sommer A, Verloes A, Walter C, Wieczorek D, Williams MS, Zackai E, Allanson JE.

Am J Med Genet A. 2005 Jan 30;132A(3):265-72.

PMID:
15690370
4.

Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome.

Shieh JT, Hudgins L, Cherry AM, Shen Z, Hoyme HE.

Am J Med Genet A. 2006 Jan 15;140(2):170-3.

PMID:
16353235
5.

Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management.

Schrander-Stumpel CT, Spruyt L, Curfs LM, Defloor T, Schrander JJ.

Am J Med Genet A. 2005 Jan 30;132A(3):234-43.

PMID:
15690368
6.

Symptomatic Chiari I malformation in Kabuki syndrome.

Ciprero KL, Clayton-Smith J, Donnai D, Zimmerman RA, Zackai EH, Ming JE.

Am J Med Genet A. 2005 Jan 30;132A(3):273-5.

PMID:
15523623
7.

Autoimmune disorders in Kabuki syndrome.

Ming JE, Russell KL, McDonald-McGinn DM, Zackai EH.

Am J Med Genet A. 2005 Jan 30;132A(3):260-2.

PMID:
15523604
8.

Neonatal phenotype in Kabuki syndrome.

Vaux KK, Hudgins L, Bird LM, Roeder E, Curry CJ, Jones M, Jones KL.

Am J Med Genet A. 2005 Jan 30;132A(3):244-7.

PMID:
15690369
9.

Developmental outcome in Kabuki syndrome.

Vaux KK, Jones KL, Jones MC, Schelley S, Hudgins L.

Am J Med Genet A. 2005 Jan 30;132A(3):263-4.

PMID:
15523636
10.

A re-examination of the chromosome 8p22-8p23.1 region in Kabuki syndrome.

Milunsky JM, Maher TA, Zhao G, Huang XL, Wang Z, Zou Y.

Clin Genet. 2008 May;73(5):502-3. doi: 10.1111/j.1399-0004.2008.00983.x. Epub 2008 Mar 11. No abstract available.

PMID:
18336587
11.
12.

Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort.

Turner C, Lachlan K, Amerasinghe N, Hodgkins P, Maloney V, Barber J, Temple IK.

Eur J Hum Genet. 2005 Jun;13(6):716-20.

13.

Expressive language in children with Kabuki syndrome.

Defloor T, van Borsel J, Schrander-Stumpel CT, Curfs LM.

Am J Med Genet A. 2005 Jan 30;132A(3):256-9.

PMID:
15578615
14.

Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.

Hennies HC, Rauch A, Seifert W, Schumi C, Moser E, Al-Taji E, Tariverdian G, Chrzanowska KH, Krajewska-Walasek M, Rajab A, Giugliani R, Neumann TE, Eckl KM, Karbasiyan M, Reis A, Horn D.

Am J Hum Genet. 2004 Jul;75(1):138-45. Epub 2004 May 20.

15.

Intellectual abilities and adaptive behavior of children and adolescents with Kabuki syndrome: a preliminary study.

Mervis CB, Becerra AM, Rowe ML, Hersh JH, Morris CA.

Am J Med Genet A. 2005 Jan 30;132A(3):248-55.

PMID:
15523605
16.

Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association.

Ming JE, Russell KL, Bason L, McDonald-McGinn DM, Zackai EH.

Am J Med Genet A. 2003 Dec 15;123A(3):249-52. Review.

PMID:
14608645
17.

Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression.

Stankiewicz P, Thiele H, Giannakudis I, Schlicker M, Baldermann C, Krüger A, Dörr S, Starke H, Hansmann I.

Am J Med Genet. 2001 Aug 15;102(3):286-92.

PMID:
11484209
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20.

No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients.

Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Ohashi H, Kurosawa K, Naritomi K, Kaname T, Nagai T, Shotelersuk V, Hou JW, Fukushima Y, Kondoh T, Matsumoto T, Shinoki T, Kato M, Tonoki H, Nomura M, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N.

Am J Med Genet A. 2006 Feb 1;140(3):291-3. No abstract available.

PMID:
16278908

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