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Results: 1 to 20 of 492

1.

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
[PubMed - indexed for MEDLINE]
2.

Tetra-amelia, lung hypo-/aplasia, cleft lip-palate, and heart defect: a new syndrome?

Başaran S, Yüksel A, Ermiş H, Kuseyri F, Ağan M, Yüksel-Apak M.

Am J Med Genet. 1994 May 15;51(1):77-80.

PMID:
8030673
[PubMed - indexed for MEDLINE]
3.

New autosomal recessive form of amelia.

Michaud J, Filiatrault D, Dallaire L, Lambert M.

Am J Med Genet. 1995 Mar 27;56(2):164-7. Review.

PMID:
7625439
[PubMed - indexed for MEDLINE]
4.

A familial tetraphocomelia syndrome involving limb deformities, cleft lip, cleft palate, and associated anomalies--a new syndrome.

Kucheria K, Bhargava SK, Bamezai R, Bhutani P.

Hum Genet. 1976 Aug 30;33(3):323-6.

PMID:
964992
[PubMed - indexed for MEDLINE]
5.

Recurrent tetraamelia and pulmonary hypoplasia with multiple malformations in sibs.

Rosenak D, Ariel I, Arnon J, Diamant YZ, Ben Chetrit A, Nadjari M, Zilberman R, Yaffe H, Cohen T, Ornoy A.

Am J Med Genet. 1991 Jan;38(1):25-8.

PMID:
2012129
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

Tetra-amelia and splenogonadal fusion in Roberts syndrome.

de Ravel TJ, Seftel MD, Wright CA.

Am J Med Genet. 1997 Jan 20;68(2):185-9.

PMID:
9028456
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
10.
11.

The tetraphocomelia-cleft palate syndrome in identical twins.

Fryns H, Goddeeris P, Moerman F, Herman F, van der Berghe H.

Hum Genet. 1980 Feb;53(2):279-81.

PMID:
7188929
[PubMed - indexed for MEDLINE]
12.

Association of tetra-amelia, ectodermal dysplasia, hypoplastic lacrimal ducts and sacs opening towards the exterior, peculiar face, and developmental retardation.

Ohdo S, Madokoro H, Sonoda T, Takei M, Yasuda H, Mori N.

J Med Genet. 1987 Oct;24(10):609-12.

PMID:
3681906
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Severe case of Al Awadi/Raas-Rothschild syndrome or new, possibly autosomal recessive facio-skeleto-genital syndrome.

Mollica F, Mazzone D, Cimino G, Opitz JM.

Am J Med Genet. 1995 Mar 27;56(2):168-72. Review.

PMID:
7625440
[PubMed - indexed for MEDLINE]
14.

Roberts syndrome or "X-linked amelia"?

Gershoni-Baruch R, Drugan A, Bronshtein M, Zimmer EZ.

Am J Med Genet. 1990 Dec;37(4):569-72.

PMID:
2260610
[PubMed - indexed for MEDLINE]
15.

Tetra-amelia with multiple malformations in six male fetuses of one kindred.

Zimmer EZ, Taub E, Sova Y, Divon MY, Pery M, Peretz BA.

Eur J Pediatr. 1985 Nov;144(4):412-4.

PMID:
4076260
[PubMed - indexed for MEDLINE]
16.

New case of bilateral upper limb amelia, facial clefts, and renal hypoplasia.

Pierri NB, Lecora M, Passariello A, Scala I, Andria G.

Am J Med Genet. 2000 Mar 13;91(2):123-5.

PMID:
10748410
[PubMed - indexed for MEDLINE]
17.

Sibs with anencephaly, anophthalmia, clefts, omphalocele, and polydactyly: hydrolethalus or acrocallosal syndrome?

Christensen B, Blaas HG, Isaksen CV, Roald B, Orstavik KH.

Am J Med Genet. 2000 Mar 20;91(3):231-4.

PMID:
10756349
[PubMed - indexed for MEDLINE]
18.

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.

PMID:
14872406
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

[Roberts' syndrome. Review of the literature and presentation of 2 clinical cases].

Colombo B, Bottelli A, Maserati E.

Pediatr Med Chir. 1986 May-Jun;8(3):411-3. Italian.

PMID:
3786205
[PubMed - indexed for MEDLINE]
20.

Report of two cases with Van der Woude syndrome: a child and her mother.

Koçer U, Aksoy HM, Tiftikcioğlu YO, Cöloğlu H, Karaaslan O.

Genet Couns. 2001;12(4):341-6.

PMID:
11837602
[PubMed - indexed for MEDLINE]

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