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Items: 1 to 20 of 27

1.
2.

Birth defects caused by mutations in human GLI3 and mouse Gli3 genes.

Naruse I, Ueta E, Sumino Y, Ogawa M, Ishikiriyama S.

Congenit Anom (Kyoto). 2010 Mar;50(1):1-7. doi: 10.1111/j.1741-4520.2009.00266.x. Review.

PMID:
20201963
3.

Pallister-Hall syndrome: unreported skeletal features of a GLI3 mutation.

Roscioli T, Kennedy D, Cui J, Fonseca B, Watson GF, Pereira J, Xie YG, Mowat D.

Am J Med Genet A. 2005 Aug 1;136A(4):390-4. Review.

PMID:
16007608
4.

[Greig cephalopolysyndactyly syndrome].

Satokata I.

Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):184-6. Review. Japanese. No abstract available.

PMID:
11057189
5.

The Greig cephalopolysyndactyly syndrome.

Biesecker LG.

Orphanet J Rare Dis. 2008 Apr 24;3:10. doi: 10.1186/1750-1172-3-10. Review.

6.

Acrocallosal syndrome: additional manifestations.

Casamassima AC, Beneck D, Gewitz MH, Horowitz MA, Woolf PK, Pettersen IM, Shapiro LR.

Am J Med Genet. 1989 Mar;32(3):311-7. Review.

PMID:
2658584
7.

[Pallister-Hall syndrome].

Oho Y, Okuyama T.

Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):23-5. Review. Japanese. No abstract available.

PMID:
11057130
8.

Hypogenitalism in the acrocallosal syndrome.

Temtamy SA, Meguid NA.

Am J Med Genet. 1989 Mar;32(3):301-5. Review.

PMID:
2658583
9.

Clefting, amniotic bands, and polydactyly: a distinct phenotype that supports an intrinsic mechanism for amniotic band sequence.

Robin NH, Franklin J, Prucka S, Ryan AB, Grant JH.

Am J Med Genet A. 2005 Sep 1;137A(3):298-301. Review.

PMID:
16088913
10.

Greig Cephalopolysyndactyly Syndrome.

Biesecker LG.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2001 Jul 9 [updated 2014 Jun 19].

11.

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
12.

What you can learn from one gene: GLI3.

Biesecker LG.

J Med Genet. 2006 Jun;43(6):465-9. Review.

13.

Lumping and splitting: molecular biology in the genetics clinic.

Biesecker LG.

Clin Genet. 1998 Jan;53(1):3-7. Review. No abstract available.

PMID:
9550355
14.

Rett syndrome: a prototypical neurodevelopmental disorder.

Neul JL, Zoghbi HY.

Neuroscientist. 2004 Apr;10(2):118-28. Review.

PMID:
15070486
15.

Possible third case of Lin-Gettig syndrome.

Hedera P, Innis JW.

Am J Med Genet. 2002 Jul 15;110(4):380-3. Review.

PMID:
12116213
16.

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
17.

Genital abnormalities in Pallister-Hall syndrome: Report of two patients and review of the literature.

Narumi Y, Kosho T, Tsuruta G, Shiohara M, Shimazaki E, Mori T, Shimizu A, Igawa Y, Nishizawa S, Takagi K, Kawamura R, Wakui K, Fukushima Y.

Am J Med Genet A. 2010 Dec;152A(12):3143-7. doi: 10.1002/ajmg.a.33720. Review.

PMID:
21108399
18.

Advances in the molecular genetics of non-syndromic polydactyly.

Deng H, Tan T, Yuan L.

Expert Rev Mol Med. 2015 Oct 30;17:e18. doi: 10.1017/erm.2015.18. Review.

PMID:
26515020
19.

Frontonasal dysplasia: analysis of 21 cases and literature review.

Guion-Almeida ML, Richieri-Costa A, Saavedra D, Cohen MM Jr.

Int J Oral Maxillofac Surg. 1996 Apr;25(2):91-7. Review.

PMID:
8727576
20.

Acro-renal-ocular syndrome: expansion of the phenotype.

Guillén-Navarro E, Wallerstein R, Reich E, Zajac L, Ostrer H.

Clin Dysmorphol. 1998 Oct;7(4):243-8. Review.

PMID:
9823489
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