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Items: 1 to 20 of 89

1.

A case of Brachman de Lange syndrome with cerebellar vermis hypoplasia.

Ozkinay F, Cogulu O, Gündüz C, Levent E, Ozkinay C.

Clin Dysmorphol. 1998 Oct;7(4):303-5. No abstract available.

PMID:
9823500
2.

Septo-optic dysplasia with cerebellar hypoplasia in Cornelia de Lange syndrome.

Hayashi M, Sakamoto K, Kurata K, Nagata J, Satoh J, Morimatsu Y.

Acta Neuropathol. 1996 Dec;92(6):625-30.

PMID:
8960322
3.

The hand profile on de Lange syndrome: diagnostic criteria.

Halal F, Preus M.

Am J Med Genet. 1979;3(4):317-23.

PMID:
474631
4.

Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome.

Cunniff C, Curry CJ, Carey JC, Graham JM Jr, Williams CA, Stengel-Rutkowski S, Lüttgen S, Meinecke P.

Am J Med Genet. 1993 Nov 15;47(7):1018-21.

PMID:
8291515
5.

Metacarpophalangeal pattern profile analysis in Brachmann-de Lange syndrome.

Butler MG, Dahir GA, Gale DD, Meaney FJ.

Am J Med Genet. 1993 Nov 15;47(7):1003-5.

6.

Topics in perinatal genetics. Cornelia de Lange syndrome.

Elhassani SB, Moyd PK.

J Perinatol. 1987 Spring;7(2):156-7. No abstract available.

PMID:
3505613
7.
8.

A study of the dermatoglyphs in the de Lange syndrome.

Smith GF.

J Ment Defic Res. 1966 Dec;10(4):241-54. No abstract available.

PMID:
5972765
9.

Brachmann-de Lange syndrome with normal IQ.

Saal HM, Samango-Sprouse CA, Rodnan LA, Rosenbaum KN, Custer DA.

Am J Med Genet. 1993 Nov 15;47(7):995-8. Review.

PMID:
8291543
10.

Brachmann-de Lange syndrome. Delineation of the clinical phenotype.

Ireland M, Donnai D, Burn J.

Am J Med Genet. 1993 Nov 15;47(7):959-64.

PMID:
8291539
11.

Pathological features in the de Lange syndrome.

France NE, Crome L, Abraham JM.

Acta Paediatr Scand. 1969 Sep;58(5):470-80. No abstract available.

PMID:
5365170
12.

Neurologic and psychometric findings in the Brachmann-De Lange syndrome.

Barr AN, Grabow JD, Matthews CG, Grosse FR, Motl ML, Opitz JM.

Neuropadiatrie. 1971 Jul;3(1):46-66. No abstract available.

PMID:
5170967
13.

Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings.

Chong K, Keating S, Hurst S, Summers A, Berger H, Seaward G, Martin N, Friedberg T, Chitayat D.

Prenat Diagn. 2009 May;29(5):489-94. doi: 10.1002/pd.2228.

PMID:
19242925
14.

Brain dysgenesis in Cornelia de Lange syndrome.

Yamaguchi K, Ishitobi F.

Clin Neuropathol. 1999 Mar-Apr;18(2):99-105.

PMID:
10192706
15.

[Brachmann-de-Lange syndrome in our population: clinical and epidemiological characteristics].

Martínez-Frías ML, Bermejo E, Félix V, Jiménez N, Gómez-Ullate J, López JA, Aparicio P, Ayala A, Gairi JM, Galán E, Suárez ME, Peñas A, de Tapia JM, Nieto C, de la Serna E.

An Esp Pediatr. 1998 Mar;48(3):293-8. Spanish.

PMID:
9608092
16.

Cerebellar vermis hypoplasia - non progressive congenital ataxia: clinical and radiological findings in a pair of siblings.

Bruck I, Antoniuk SA, Carvalho Neto AD, Spessatto A.

Arq Neuropsiquiatr. 2000 Sep;58(3B):897-900.

17.

[On the Cornelia De Lange syndrome. (Clinical contribution)].

Normale M, Pinta-Boccalatte MF, Castaldo A.

Pediatria (Napoli). 1972;80(4):368-87. Italian. No abstract available.

PMID:
4646631
18.

Probable Cornelia de Lange syndrome with progressive parkinsonism and dystonia.

Fernandez HH, Friedman JH, Famiglietti EV.

Mov Disord. 2000 Jul;15(4):749-51. No abstract available.

PMID:
10928594
19.

A Malay boy with the Cornelia de Lange syndrome: clinical and molecular findings.

Bhuiyan ZA, Zilfalil BA, Hennekam RC.

Singapore Med J. 2006 Aug;47(8):724-7.

20.

Diaphragmatic defect in Brachmann-de Lange syndrome: a further observation.

Pankau R, Jänig U.

Am J Med Genet. 1993 Nov 15;47(7):1024-5. No abstract available.

PMID:
8291517

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