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Items: 20

1.

Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome.

Garavelli L, Donadio A, Zanacca C, Banchini G, Della Giustina E, Bertani G, Albertini G, Del Rossi C, Zweier C, Rauch A, Zollino M, Neri G.

Am J Med Genet A. 2003 Feb 1;116A(4):385-8. No abstract available.

PMID:
12522797
2.

Mowat-Wilson syndrome.

Mowat DR, Wilson MJ, Goossens M.

J Med Genet. 2003 May;40(5):305-10. Review.

3.

Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype.

Zweier C, Horn D, Kraus C, Rauch A.

Am J Med Genet A. 2006 Apr 15;140(8):869-72. Review.

PMID:
16532472
4.

Mowat-Wilson syndrome.

Garavelli L, Mainardi PC.

Orphanet J Rare Dis. 2007 Oct 24;2:42. Review.

5.

The syndrome of Hirschsprung disease, microcephaly, unusual face, and mental retardation.

Halal F, Morel J.

Am J Med Genet. 1990 Sep;37(1):106-8. Review.

PMID:
2240026
6.

Goldberg-Shprintzen syndrome: report of a new family and review of the literature.

Fryer AE.

Clin Dysmorphol. 1998 Apr;7(2):97-101. Review.

PMID:
9571278
7.

Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.

Garavelli L, Zollino M, Mainardi PC, Gurrieri F, Rivieri F, Soli F, Verri R, Albertini E, Favaron E, Zignani M, Orteschi D, Bianchi P, Faravelli F, Forzano F, Seri M, Wischmeijer A, Turchetti D, Pompilii E, Gnoli M, Cocchi G, Mazzanti L, Bergamaschi R, De Brasi D, Sperandeo MP, Mari F, Uliana V, Mostardini R, Cecconi M, Grasso M, Sassi S, Sebastio G, Renieri A, Silengo M, Bernasconi S, Wakamatsu N, Neri G.

Am J Med Genet A. 2009 Mar;149A(3):417-26. doi: 10.1002/ajmg.a.32693. Review.

PMID:
19215041
8.

Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement.

Alkuraya FS, Lin AE, Irons MB, Kimonis VE.

Am J Med Genet A. 2005 Jan 15;132A(2):226-30. Review.

PMID:
15580636
9.

Hirschsprung disease, unusual face, mental retardation, epilepsy, and congenital heart disease: Goldberg-Shprintzen syndrome.

Tanaka H, Ito J, Cho K, Mikawa M.

Pediatr Neurol. 1993 Nov-Dec;9(6):479-81. Review.

PMID:
7605558
10.

Kabuki syndrome: a review.

Adam MP, Hudgins L.

Clin Genet. 2005 Mar;67(3):209-19. Review.

PMID:
15691356
11.

Case reports of oculofaciocardiodental syndrome with unusual dental findings.

Oberoi S, Winder AE, Johnston J, Vargervik K, Slavotinek AM.

Am J Med Genet A. 2005 Jul 30;136(3):275-7. Review. Erratum in: Am J Med Genet A. 2005 Nov 15;139(1):54.

PMID:
15957158
12.

Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review.

Courtens W, Wuyts W, Poot M, Szuhai K, Wauters J, Reyniers E, Eleveld M, Diaz G, Nöthen MM, Parvari R.

Am J Med Genet A. 2006 Mar 15;140(6):611-7. Review.

PMID:
16470743
13.

The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900).

Gécz J, Turner G, Nelson J, Partington M.

Eur J Hum Genet. 2006 Dec;14(12):1233-7. Epub 2006 Aug 16. Review.

14.

9q34.3 deletion syndrome in three unrelated children.

Iwakoshi M, Okamoto N, Harada N, Nakamura T, Yamamori S, Fujita H, Niikawa N, Matsumoto N.

Am J Med Genet A. 2004 Apr 30;126A(3):278-83. Review.

PMID:
15054842
15.

[Ruvalcaba syndrome].

Ishii T.

Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):244-5. Review. Japanese. No abstract available.

PMID:
11057214
16.

[Cohen syndrome].

Kayashima T, Niikawa N.

Ryoikibetsu Shokogun Shirizu. 2001;(36):477-8. Review. Japanese. No abstract available.

PMID:
11596442
17.

[Coffin-Lowry syndrome].

Ishii T.

Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):163-5. Review. Japanese. No abstract available.

PMID:
11057180
18.

[FG syndrome].

Kato R.

Ryoikibetsu Shokogun Shirizu. 2001;(33):710-1. Review. Japanese. No abstract available.

PMID:
11462647
19.

[Goldberg-Shprintzen syndrome].

Imaizumi K.

Ryoikibetsu Shokogun Shirizu. 2001;(33):761-2. Review. Japanese. No abstract available.

PMID:
11462673
20.

Vision and insight in the search for gene mutations causing nonsyndromal mental deficiency.

Opitz JM.

Neurology. 2000 Aug 8;55(3):328-30. Review. No abstract available.

PMID:
10932260

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