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Items: 1 to 20 of 129

1.

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
2.

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
3.

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
4.

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
5.

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
7.

Tetra-phocomelia with multiple malformations: X-linked amelia, or Roberts syndrome, or DK-phocomelia syndrome?

Rodríguez JI, Palacios J, Urioste M, Rodríguez-Peralto JL.

Am J Med Genet. 1992 Jun 1;43(3):630-2. No abstract available.

PMID:
1605264
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 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
10.

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
11.

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
12.

Upper limb amelia, facial clefts, holoprosencephaly, and interrupted aortic arch.

Zimpfer A, Miny P, Dombrowski U, Tolnay M, Meyer P, Bruder E.

Fetal Pediatr Pathol. 2007 Jul-Aug;26(4):169-76.

PMID:
18075831
13.

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
14.

Association of ectrodactyly and distal phocomelia.

Delrue MA, Lacombe D.

Genet Couns. 2002;13(3):319-25.

PMID:
12416640
15.

Al-Awadi/Raas-Rothschild syndrome in a newborn with additional anomalies.

Alp E, Alp H, Atabek ME, Pirgon Ö.

J Clin Res Pediatr Endocrinol. 2010;2(1):49-51. doi: 10.4274/jcrpe.v2i1.49.

16.

Prenatal detection of Roberts-SC phocomelia syndrome: report of 2 sibs with characteristic manifestations.

Robins DB, Ladda RL, Thieme GA, Boal DK, Emanuel BS, Zackai EH.

Am J Med Genet. 1989 Mar;32(3):390-4. Review.

PMID:
2658590
17.

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.

PMID:
19878742
18.

VACTERL with hydrocephalus: spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance.

Wang H, Hunter AG, Clifford B, McLaughlin M, Thompson D.

Am J Med Genet. 1993 Aug 1;47(1):114-7.

PMID:
8368240
19.

VACTERL-hydrocephaly, DK-phocomelia, and cerebro-cardio-radio-reno-rectal community.

Lurie IW, Ferencz C.

Am J Med Genet. 1997 May 16;70(2):144-9. Review.

PMID:
9128933
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