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Items: 1 to 20 of 130

1.

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
2.

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
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.

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
5.

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
8.

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
9.

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
10.

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
11.

Autosomal recessive microcephaly and micromelia in Cree Indians.

Ives EJ, Houston CS.

Am J Med Genet. 1980;7(3):351-60.

PMID:
7468660
12.

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
13.

Roberts syndrome and SC phocomelia. A single genetic entity.

Römke C, Froster-Iskenius U, Heyne K, Höhn W, Hof M, Grzejszczyk G, Rauskolb R, Rehder H, Schwinger E.

Clin Genet. 1987 Mar;31(3):170-7.

PMID:
3568444
14.

Orofaciodigital syndrome with mesomelic limb shortening.

Burn J, Dezateux C, Hall CM, Baraitser M.

J Med Genet. 1984 Jun;21(3):189-92.

15.

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.

17.

Familial cystic hygroma. Report of 8 cases in 3 families.

Tricoire J, Sarramon MF, Rolland M, Lefort G.

Genet Couns. 1993;4(4):265-9.

PMID:
8110412
18.

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
19.

Roberts-SC phocomelia syndrome.

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

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

PMID:
11450388
20.

The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review.

Farag TI, al-Awadi SA, Marafie MJ, Bastaki L, al-Othman SA, Mohammed FM, AlSuliman IS, Murthy DS.

J Med Genet. 1993 Jan;30(1):62-4. Review.

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