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Items: 1 to 20 of 165

1.

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
2.

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
3.

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
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.

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
6.

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
8.

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
9.

Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: a new syndrome.

Al-Awadi SA, Teebi AS, Farag TI, Naguib KM, el-Khalifa MY.

J Med Genet. 1985 Feb;22(1):36-8.

10.

Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome.

Bonioli E, Palmieri A, Bertola A, Bellini C.

Genet Couns. 1995;6(4):309-12.

PMID:
8775417
11.

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
12.
13.

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
16.

New X-linked mental retardation (XLMR) syndrome with distinct facial appearance and growth retardation.

Brooks SS, Wisniewski K, Brown WT.

Am J Med Genet. 1994 Jul 15;51(4):586-90.

PMID:
7943044
17.

The Roberts syndrome.

Freeman MV, Williams DW, Schimke RN, Temtamy SA, Vachier E, German J.

Birth Defects Orig Artic Ser. 1974;10(5):87-95.

PMID:
4220010
18.

Limb reduction defects and renal dysplasia: confirmation of a new, apparently lethal, autosomal recessive MCA syndrome.

Schrander-Stumpel C, de Die-Smulders C, Fryns JP, da Costa J, Bouckaert P.

Am J Med Genet. 1990 Sep;37(1):133-5.

PMID:
2240030
19.

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
20.

Autosomal dominant inheritance of Barber-Say syndrome.

Dinulos MB, Pagon RA.

Am J Med Genet. 1999 Sep 3;86(1):54-6.

PMID:
10440829
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