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Items: 14

1.

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
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
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
6.

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.

7.

Absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies: an autosomal recessive disorder.

Holmes LB, Redline RW, Brown DL, Williams AJ, Collins T.

J Med Genet. 1995 Nov;32(11):896-900. Review.

8.

Bartsocas-Papas syndrome in an Arab family with four affected sibs: further characterization.

Massoud AA, Ammaari AN, Khan AS, ven Katraman B, Teebi AS.

Am J Med Genet. 1998 Aug 27;79(1):16-21. Review.

PMID:
9738862
9.

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
10.

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
11.

Roberts-SC phocomelia syndrome.

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

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

PMID:
11450388
12.

Jancar syndrome: mental retardation, spasticity, and distal transverse limbs defects.

Zlotogora J, Glick B.

Am J Med Genet. 1993 Aug 1;47(1):89-90. Review.

PMID:
8368260
13.

Two siblings with midline field defects and Hirschsprung disease: variable expression of Toriello-Carey or new syndrome?

Jespers A, Buntinx I, Melis K, Vaerenberg M, Janssens G.

Am J Med Genet. 1993 Aug 15;47(2):299-302. Review.

PMID:
8213924
14.

Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome.

Raas-Rothschild A, Goodman RM, Meyer S, Katznelson MB, Winter ST, Gross E, Tamarkin M, Ben-Ami T, Nebel L, Mashiach S.

J Med Genet. 1988 Oct;25(10):687-97. Review.

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