de Die-Smulders CE - Search Results

1

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.

Paulussen AD, Schrander-Stumpel CT, Tserpelis DC, Spee MK, Stegmann AP, Mancini GM, Brooks AS, Collée M, Maat-Kievit A, Simon ME, van Bever Y, Stolte-Dijkstra I, Kerstjens-Frederikse WS, Herkert JC, van Essen AJ, Lichtenbelt KD, van Haeringen A, Kwee ML, Lachmeijer AM, Tan-Sindhunata GM, van Maarle MC, Arens YH, Smeets EE, de Die-Smulders CE, Engelen JJ, Smeets HJ, Herbergs J. Paulussen AD, et al. Eur J Hum Genet. 2010 Sep;18(9):999-1005. doi: 10.1038/ejhg.2010.70. Epub 2010 Jun 9. Eur J Hum Genet. 2010. PMID: 20531442 Free PMC article.

2

Oculoauriculovertebral spectrum and cerebral anomalies.

Schrander-Stumpel CT, de Die-Smulders CE, Hennekam RC, Fryns JP, Bouckaert PX, Brouwer OF, da Costa JJ, Lommen EJ, Maaswinkel-Mooy PD. Schrander-Stumpel CT, et al. J Med Genet. 1992 May;29(5):326-31. doi: 10.1136/jmg.29.5.326. J Med Genet. 1992. PMID: 1583660 Free PMC article. Review.

3

MASA syndrome: delineation of the clinical spectrum at prepubertal age.

Fryns JP, Schrander-Stumpel C, De Die-Smulders C, Borghgraef M, Van den Berghe H. Fryns JP, et al. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):402-7. doi: 10.1002/ajmg.1320430161. Am J Med Genet. 1992. PMID: 1605218

4

On the variable expression of the Brachmann-de Lange syndrome.

de Die-Smulders C, Theunissen P, Schrander-Stumpel C, Frijns JP. de Die-Smulders C, et al. Clin Genet. 1992 Jan;41(1):42-5. doi: 10.1111/j.1399-0004.1992.tb03628.x. Clin Genet. 1992. PMID: 1633646

5

Hallermann-Streiff syndrome: clinical and psychological findings in children. Nosologic overlap with oculodentodigital dysplasia?

Spaepen A, Schrander-Stumpel C, Fryns JP, de Die-Smulders C, Borghgraef M, Van den Berghe H. Spaepen A, et al. Am J Med Genet. 1991 Dec 15;41(4):517-20. doi: 10.1002/ajmg.1320410428. Am J Med Genet. 1991. PMID: 1663704

6

The lethal multiple pterygium syndrome: a nosological approach.

de Die-Smulders CE, Schrander-Stumpel CT, Fryns JP. de Die-Smulders CE, et al. Genet Couns. 1990;1(1):13-23. Genet Couns. 1990. PMID: 2222917 Review.

7

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. Schrander-Stumpel C, et al. Am J Med Genet. 1990 Sep;37(1):133-5. doi: 10.1002/ajmg.1320370131. Am J Med Genet. 1990. PMID: 2240030

8

Familial occurrence of renal and müllerian duct hypoplasia, craniofacial anomalies, severe growth and developmental delay: a 4p deletion?

de Die-Smulders C, Schrander-Stumpel C, Fryns JP. de Die-Smulders C, et al. Am J Med Genet. 1993 Nov 1;47(6):936. doi: 10.1002/ajmg.1320470626. Am J Med Genet. 1993. PMID: 7506486 No abstract available.

9

Anticipation resulting in elimination of the myotonic dystrophy gene: a follow up study of one extended family.

de Die-Smulders CE, Höweler CJ, Mirandolle JF, Brunner HG, Hovers V, Brüggenwirth H, Smeets HJ, Geraedts JP. de Die-Smulders CE, et al. J Med Genet. 1994 Aug;31(8):595-601. doi: 10.1136/jmg.31.8.595. J Med Genet. 1994. PMID: 7815415 Free PMC article.

10

Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication.

Moog U, Engelen JJ, de Die-Smulders CE, Albrechts JC, Loneus WH, Haagen AA, Raven EJ, Hamers AJ. Moog U, et al. Clin Genet. 1994 Dec;46(6):423-9. doi: 10.1111/j.1399-0004.1994.tb04410.x. Clin Genet. 1994. PMID: 7889659 Review.

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