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Results: 1 to 20 of 107

1.

An unusual cardiomelic syndrome.

Stratton RF, Koehler N, Morrow WR.

Am J Med Genet. 1988 Feb;29(2):333-41.

PMID:
3354604
[PubMed - indexed for MEDLINE]
2.

Bilateral ulnar agenesis: case report and review of the literature.

Bozner P, Blackburn W, Cooley NR Jr.

Pediatr Pathol Lab Med. 1995 Nov-Dec;15(6):895-913. Review.

PMID:
8705200
[PubMed - indexed for MEDLINE]
3.

Ulnar Mammary syndrome and TBX3: expanding the phenotype.

Linden H, Williams R, King J, Blair E, Kini U.

Am J Med Genet A. 2009 Dec;149A(12):2809-12. doi: 10.1002/ajmg.a.33096.

PMID:
19938096
[PubMed - indexed for MEDLINE]
4.

Ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum.

Saal HM, Bulas DI.

Clin Dysmorphol. 1995 Jul;4(3):246-50.

PMID:
7551162
[PubMed - indexed for MEDLINE]
5.

[Wolff-Parkinson-White syndrome and cardiopathies].

Soria R, Fernandez F, Heller J, Brétille J, Cherif F, Barrillon A, Gerbaux A, Gay J.

Arch Mal Coeur Vaiss. 1984 Dec;77(13):1468-80. French.

PMID:
6240236
[PubMed - indexed for MEDLINE]
6.

Ultrasonographic and clinical appearance of a 22-week-old fetus with Brachmann-de Lange syndrome.

Urban M, Hartung J.

Am J Med Genet. 2001 Jul 22;102(1):73-5.

PMID:
11471176
[PubMed - indexed for MEDLINE]
7.

Analysis of congenital heart defects in 87 consecutive patients with Brachmann-de Lange syndrome.

Selicorni A, Colli AM, Passarini A, Milani D, Cereda A, Cerutti M, Maitz S, Alloni V, Salvini L, Galli MA, Ghiglia S, Salice P, Danzi GB.

Am J Med Genet A. 2009 Jun;149A(6):1268-72. doi: 10.1002/ajmg.a.32838.

PMID:
19449412
[PubMed - indexed for MEDLINE]
8.

Bilateral ulnar hemimelia in Brachmann-de Lange syndrome: report of one case.

Chao YC, Tsai LP, Chang YW, Tsai HY.

Acta Paediatr Taiwan. 2000 Jul-Aug;41(4):211-3.

PMID:
11021007
[PubMed - indexed for MEDLINE]
9.

Hemimelia in Brachmann-de Lange syndrome (BDLS): a patient with severe deficiency of the upper and lower limbs.

Pfeiffer RA, Correll J.

Am J Med Genet. 1993 Nov 15;47(7):1014-7.

PMID:
8291514
[PubMed - indexed for MEDLINE]
10.

Congenital heart disease and urinary tract abnormalities in two siblings with DOOR syndrome.

Thornton CM, Magee AC, Thomas PS, Feakins R, Nevin NC, O'Hara MD.

Pediatr Pathol. 1994 Sep-Oct;14(5):797-803.

PMID:
7808978
[PubMed - indexed for MEDLINE]
11.

Pulmonary atresia/ventricular septal defect associated with facial port-wine stain and retinal vascular abnormality: a new constellation?

Tan H, Ceviz N, Baykal O, Büyükavci M, Bilici N.

Am J Med Genet A. 2003 Oct 15;122A(3):266-8.

PMID:
12966530
[PubMed - indexed for MEDLINE]
12.

A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndrome.

Ounap K, Ilus T, Bartsch O.

Am J Med Genet A. 2005 May 1;134(4):434-8.

PMID:
15793836
[PubMed - indexed for MEDLINE]
13.

A case with bilateral radio-ulnar synostosis.

Koç A, Kaymak AO, Karaer K, Ergün MA, Aksu T, Perçin EF.

Genet Couns. 2008;19(2):193-8. Review.

PMID:
18618994
[PubMed - indexed for MEDLINE]
14.

New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome.

Reynolds JF, Neri G, Herrmann JP, Blumberg B, Coldwell JG, Miles PV, Opitz JM.

Am J Med Genet. 1986 Nov;25(3):413-27.

PMID:
3789005
[PubMed - indexed for MEDLINE]
15.

Congenital palmar polyonychia with postaxial limb defects may be the same as the ulnar-mammary syndrome.

Crow YJ.

Am J Med Genet A. 2005 Aug 30;137(2):233; author reply 234. No abstract available.

PMID:
16059946
[PubMed - indexed for MEDLINE]
16.

Familial CHARGE syndrome: clinical report with autopsy findings.

Metlay LA, Smythe PS, Miller ME.

Am J Med Genet. 1987 Mar;26(3):577-81.

PMID:
3565473
[PubMed - indexed for MEDLINE]
17.

Radiological features in Brachmann-de Lange syndrome.

Braddock SR, Lachman RS, Stoppenhagen CC, Carey JC, Ireland M, Moeschler JB, Cunniff C, Graham JM Jr.

Am J Med Genet. 1993 Nov 15;47(7):1006-13. Review.

PMID:
8291513
[PubMed - indexed for MEDLINE]
18.

[Brachmann-de Lange syndrome: report of 4 cases in Mexican children].

Villegas-Camargo I, Lacro RV, Lyons-Jones K.

Bol Med Hosp Infant Mex. 1987 Dec;44(12):766-70. Spanish. No abstract available.

PMID:
3426781
[PubMed - indexed for MEDLINE]
19.

[Autosomal dominant Mendelian midline complex. Secundum atrial septal defect associated with cardiac and facial-thoracic defects. A familial case].

Stéphan E, Ashoush R, Mégarbané A, Kassab R, Salem N, Loiselet J, Bouvagnet P.

Arch Mal Coeur Vaiss. 2000 May;93(5):641-7. French.

PMID:
10858865
[PubMed - indexed for MEDLINE]
20.

Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: delineation of a new entity and review of lethal forms of multiple pterygium syndrome.

Chen H, Immken L, Lachman R, Yang S, Rimoin DL, Rightmire D, Eteson D, Stewart F, Beemer FA, Opitz JM, et al.

Am J Med Genet. 1984 Apr;17(4):809-26.

PMID:
6720746
[PubMed - indexed for MEDLINE]

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