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Items: 1 to 20 of 36

1.

Amelia: a multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature.

Bermejo-Sánchez E, Cuevas L, Amar E, Bakker MK, Bianca S, Bianchi F, Canfield MA, Castilla EE, Clementi M, Cocchi G, Feldkamp ML, Landau D, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Mutchinick OM, Rissmann A, Ritvanen A, Scarano G, Siffel C, Szabova E, Martínez-Frías ML.

Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):288-304. doi: 10.1002/ajmg.c.30319. Epub 2011 Oct 14. Review.

2.

Tetra-Amelia Syndrome.

Niemann S.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2007 Aug 28 [updated 2012 Aug 2].

3.

Roberts Syndrome.

Gordillo M, Vega H, Jabs EW.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2006 Apr 18 [updated 2013 Nov 14].

4.

The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature.

Goh ES, Li C, Horsburgh S, Kasai Y, Kolomietz E, Morel CF.

Am J Med Genet A. 2010 Feb;152A(2):472-8. doi: 10.1002/ajmg.a.33261.

PMID:
20101700
5.

The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies.

Gerkes EH, van der Kevie-Kersemaekers AM, Yakin M, Smeets DF, van Ravenswaaij-Arts CM.

Eur J Med Genet. 2010 Jan-Feb;53(1):40-4. doi: 10.1016/j.ejmg.2009.10.005. Epub 2009 Oct 28.

PMID:
19878742
6.

Tetra-amelia and lung hypo/aplasia syndrome: new case report and review.

Sousa SB, Pina R, Ramos L, Pereira N, Krahn M, Borozdin W, Kohlhase J, Amorim M, Gonnet K, Lévy N, Carreira IM, Couceiro AB, Saraiva JM.

Am J Med Genet A. 2008 Nov 1;146A(21):2799-803. doi: 10.1002/ajmg.a.32489. Review.

PMID:
18837045
7.

Pai syndrome: a further report of a case with bifid nose, lipoma, and agenesis of the corpus callosum.

Savasta S, Chiapedi S, Perrini S, Tognato E, Corsano L, Chiara A.

Childs Nerv Syst. 2008 Jun;24(6):773-6. doi: 10.1007/s00381-008-0613-9. Epub 2008 Mar 28.

PMID:
18369643
8.

Roberts syndrome: study of 4 new Rgyptian cases with comparison of clinical and cytogenetic findings.

Temtamy SA, Ismail S, Helmy NA.

Genet Couns. 2006;17(1):1-13. Review.

PMID:
16719272
9.

Tetra-amelia and lung aplasia syndrome: report of a new family and exclusion of candidate genes.

Krahn M, Julia S, Sigaudy S, Liprandi A, Bernard R, Gonnet K, Heuertz S, Bonaventure J, Chau C, Fredouille C, Levy N, Philip N.

Clin Genet. 2005 Dec;68(6):558-60. No abstract available.

PMID:
16283889
10.

Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family.

Niemann S, Zhao C, Pascu F, Stahl U, Aulepp U, Niswander L, Weber JL, Müller U.

Am J Hum Genet. 2004 Mar;74(3):558-63. Epub 2004 Feb 5.

11.

Further delineation of the Toriello-Carey syndrome: a report of two siblings.

Barisic I, Peter B, Mikecin L.

Am J Med Genet A. 2003 Jan 15;116A(2):188-91.

PMID:
12494442
12.

Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): distinctive features and prenatal detection.

Olney RS, Hoyme HE, Roche F, Ferguson K, Hintz S, Madan A.

Am J Med Genet. 2001 Nov 1;103(4):295-301.

PMID:
11746009
13.

Oculo-palatal-cerebral syndrome: a second case.

Pellegrino JE, Engel JM, Chavez D, Day-Salvatore D.

Am J Med Genet. 2001 Mar 15;99(3):200-3. Review.

PMID:
11241490
14.

Two sisters with Toriello-Carey syndrome.

Chinen Y, Tohma T, Izumikawa Y, Taketomi H, Iha T, Ohta T, Naritomi K.

Am J Med Genet. 1999 Nov 26;87(3):262-4.

PMID:
10564882
15.

TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome.

Gripp KW, Stolle CA, Celle L, McDonald-McGinn DM, Whitaker LA, Zackai EH.

Am J Med Genet. 1999 Jan 15;82(2):170-6.

PMID:
9934984
16.

Agyria-pachygyria and agenesis of the corpus callosum: autosomal recessive inheritance with neonatal death.

Sztriha L, Al-Gazali L, Dawodu A, Bakir M, Chandran P.

Neurology. 1998 May;50(5):1466-9.

PMID:
9596009
17.

Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder.

Munoz F, Lestringant G, Sybert V, Frydman M, Alswaini A, Frossard PM, Jorgenson R, Zonana J.

Am J Hum Genet. 1997 Jul;61(1):94-100.

19.

Agenesis of the corpus callosum in a mother and son.

Inbar D, Halpern GJ, Weitz R, Sadeh M, Shohat M.

Am J Med Genet. 1997 Mar 17;69(2):152-4.

PMID:
9056551
20.

Zimmer phocomelia: delineation by principal coordinate analysis.

Kosaki K, Jones MC, Stayboldt C.

Am J Med Genet. 1996 Dec 2;66(1):55-9.

PMID:
8957512

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