de Die-Smulders C - Search Results

1

Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.

Schell U, Hehr A, Feldman GJ, Robin NH, Zackai EH, de Die-Smulders C, Viskochil DH, Stewart JM, Wolff G, Ohashi H, et al. Schell U, et al. Hum Mol Genet. 1995 Mar;4(3):323-8. doi: 10.1093/hmg/4.3.323. Hum Mol Genet. 1995. PMID: 7795583

2

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

3

A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome.

Meijer H, de Graaff E, Merckx DM, Jongbloed RJ, de Die-Smulders CE, Engelen JJ, Fryns JP, Curfs PM, Oostra BA. Meijer H, et al. Hum Mol Genet. 1994 Apr;3(4):615-20. doi: 10.1093/hmg/3.4.615. Hum Mol Genet. 1994. PMID: 8069307

4

The fragile X syndrome: no evidence for any recent mutations.

Smits AP, Dreesen JC, Post JG, Smeets DF, de Die-Smulders C, Spaans-van der Bijl T, Govaerts LC, Warren ST, Oostra BA, van Oost BA. Smits AP, et al. J Med Genet. 1993 Feb;30(2):94-6. doi: 10.1136/jmg.30.2.94. J Med Genet. 1993. PMID: 8445628 Free PMC article.

5

Familial partial trisomy 8p without dysmorphic features and only mild mental retardation.

Engelen JJ, de Die-Smulders CE, Sijstermans JM, Meers LE, Albrechts JC, Hamers AJ. Engelen JJ, et al. J Med Genet. 1995 Oct;32(10):792-5. doi: 10.1136/jmg.32.10.792. J Med Genet. 1995. PMID: 8558557 Free PMC article.

6

Pfeiffer syndrome type 2: further delineation and review of the literature.

Plomp AS, Hamel BC, Cobben JM, Verloes A, Offermans JP, Lajeunie E, Fryns JP, de Die-Smulders CE. Plomp AS, et al. Am J Med Genet. 1998 Jan 23;75(3):245-51. Am J Med Genet. 1998. PMID: 9475590 Review.

7

Detection of structural abnormalities in spermatozoa of a translocation carrier t(3;11)(q27.3;q24.3) by triple FISH.

Martini E, von Bergh AR, Coonen E, de Die-Smulders CE, Hopman AH, Ramaekers FC, Geraedts JP. Martini E, et al. Hum Genet. 1998 Feb;102(2):157-65. doi: 10.1007/s004390050670. Hum Genet. 1998. PMID: 9521583

8

Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3).

Plomp AS, Engelen JJ, Albrechts JC, de Die-Smulders CE, Hamers AJ. Plomp AS, et al. J Med Genet. 1998 Jul;35(7):604-8. doi: 10.1136/jmg.35.7.604. J Med Genet. 1998. PMID: 9678708 Free PMC article. Review.

9

Two sibs with microcephaly, hygroma colli, renal dysplasia, and cutaneous syndactyly: a new lethal MCA syndrome?

Janssen HC, Schaap C, Vandevijver N, Moerman P, de Die-Smulders CE, Fryns JP. Janssen HC, et al. J Med Genet. 1999 Jun;36(6):481-4. J Med Genet. 1999. PMID: 10874639 Free PMC article. Review.

10

Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements.

Dimitrov BI, de Ravel T, Van Driessche J, de Die-Smulders C, Toutain A, Vermeesch JR, Fryns JP, Devriendt K, Debeer P. Dimitrov BI, et al. J Med Genet. 2010 Feb;47(2):103-11. doi: 10.1136/jmg.2008.065888. Epub 2009 Jul 6. J Med Genet. 2010. PMID: 19584065

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