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Items: 1 to 20 of 241

2.

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
3.

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
4.

Roberts-SC phocomelia syndrome: a case with additional anomalies.

Satar M, Atici A, Bişak U, Tunali N.

Clin Genet. 1994 Feb;45(2):107-8.

PMID:
8004795
5.

Roberts-SC phocomelia syndrome with exencephaly.

Verloes A, Herens C, Van Maldergem L, Retz MC, Dodinval P.

Ann Genet. 1989;32(3):169-70.

PMID:
2817778
6.

[Roberts-SC phocomelia syndrome: cytogenetic findings and clinical variability in three brothers].

Antiñolo Gil G, Borrego López S, Cañadas García de León M, Sánchez García J.

An Esp Pediatr. 1988 Sep;29(3):239-43. Review. Spanish.

PMID:
3057982
7.

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
8.

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
9.

Roberts-SC phocomelia syndrome.

Maheshwari A, Kumar P, Dutta S, Narang A.

Indian J Pediatr. 2001 Jun;68(6):557-9. Review.

PMID:
11450388
10.

Roberts syndrome with normal cell division.

Keppen LD, Gollin SM, Seibert JJ, Sisken JE.

Am J Med Genet. 1991 Jan;38(1):21-4.

PMID:
2012128
11.

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
12.

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
13.

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
14.

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
15.

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
16.

Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review.

Leonardi ML, Pai GS, Wilkes B, Lebel RR.

Am J Med Genet. 2001 Aug 15;102(3):237-42. Review.

PMID:
11484200
18.

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
19.

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
20.

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
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