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Results: 1 to 20 of 21

1.

A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families.

Eyaid W, Al-Qattan MM, Al Abdulkareem I, Fetaini N, Al Balwi M.

Am J Med Genet A. 2011 Mar;155A(3):599-604. doi: 10.1002/ajmg.a.33717. Epub 2011 Feb 22.

PMID:
21344627
[PubMed - indexed for MEDLINE]
2.

WNT pathways and upper limb anomalies.

Al-Qattan MM.

J Hand Surg Eur Vol. 2011 Jan;36(1):9-22. doi: 10.1177/1753193410380502. Epub 2010 Aug 13. Review.

PMID:
20709709
[PubMed - indexed for MEDLINE]
3.

Tetra-amelia with lung hypoplasia and facial clefts, Roberts-SC syndrome: report of two cases.

Ragavan M, Reddy S, Kumar C.

Pediatr Surg Int. 2010 Oct;26(10):1049-52. doi: 10.1007/s00383-010-2656-8.

PMID:
20625748
[PubMed - indexed for MEDLINE]
4.

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]
5.

The Wnt-dependent signaling pathways as target in oncology drug discovery.

Janssens N, Janicot M, Perera T.

Invest New Drugs. 2006 Jul;24(4):263-80. Review.

PMID:
16683072
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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]
7.

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
8.

Trisomy 8 mosaicism in a with patient tetraamelia.

Götze A, Krebs P, Stumm M, Wieacker P, Allhoff EP.

Am J Med Genet. 1999 Oct 29;86(5):497-8. No abstract available.

PMID:
10508995
[PubMed - indexed for MEDLINE]
9.

Anesthetic management of a patient with tetra-amelia.

Williams AR, Bailey MK.

South Med J. 1999 Mar;92(3):325-7.

PMID:
10094277
[PubMed - indexed for MEDLINE]
10.

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]
11.

Tetraamelia associated with a syrinx: fortuitous association or clue?

Megarbane A, Tamraz J, Haddad S.

Clin Dysmorphol. 1997 Jan;6(1):81-4.

PMID:
9018423
[PubMed - indexed for MEDLINE]
12.
13.

Prenatal ultrasound diagnosis of amelia.

Rijhsinghani A, Yankowitz J, Mazursky J, Williamson R.

Prenat Diagn. 1995 Jul;15(7):655-9.

PMID:
8532626
[PubMed - indexed for MEDLINE]
14.

Natural history and postmortem anatomy of a patient with tetra-amelia, ectodermal dysplasia, peculiar face, and developmental retardation (MIM 273390)

Ohdo S, Sonoda T, Ohba K.

J Med Genet. 1994 Dec;31(12):980-1. No abstract available.

PMID:
7534355
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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]
16.

Syndrome of tetraamelia with pulmonary hypoplasia.

Zlotogora J, Sagi M, Shabany YO, Jarallah RY.

Am J Med Genet. 1993 Sep 15;47(4):570-1. No abstract available.

PMID:
8256824
[PubMed - indexed for MEDLINE]
17.

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]
18.

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]
19.

Recurrent tetra-amelia: ultrasonographic diagnosis in early pregnancy.

Miyakawa I, Yasuda H, Yanagita K, Yamaguchi M, Mori N.

Asia Oceania J Obstet Gynaecol. 1988 Jun;14(2):181-4. No abstract available.

PMID:
3063244
[PubMed - indexed for MEDLINE]
20.

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

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