Fryns JP - Search Results

1

Two sibs with an unusual pattern of skeletal malformations resembling osteogenesis imperfecta: a new type of skeletal dysplasia?

Moog U, Maroteaux P, Schrander-Stumpel CT, van Ooij A, Schrander JJ, Fryns JP. Moog U, et al. Among authors: fryns jp. J Med Genet. 1999 Nov;36(11):856-8. J Med Genet. 1999. PMID: 10544232 Free PMC article.

2

A severe case of mandibuloacral dysplasia in a girl.

Schrander-Stumpel C, Spaepen A, Fryns JP, Dumon J. Schrander-Stumpel C, et al. Among authors: fryns jp. Am J Med Genet. 1992 Jul 15;43(5):877-81. doi: 10.1002/ajmg.1320430525. Am J Med Genet. 1992. PMID: 1642279 Review.

3

Fryns syndrome: another example of non-lethal outcome with severe mental handicap.

Hanssen AM, Schrander-Stumpel CT, Thiry PA, Fryns JP. Hanssen AM, et al. Among authors: fryns jp. Genet Couns. 1992;3(4):187-93. Genet Couns. 1992. PMID: 1472353

4

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. Among authors: fryns jp. 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.

5

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

6

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. Among authors: fryns jp. Am J Med Genet. 1991 Dec 15;41(4):517-20. doi: 10.1002/ajmg.1320410428. Am J Med Genet. 1991. PMID: 1663704

7

Distal arthrogryposis, specific facial dysmorphism and psychomotor retardation: a recognizable entity in surviving patients with the fetal akinesia deformation sequence.

Schrander-Stumpel CT, Fryns JP, Schrander JJ, Vles J. Schrander-Stumpel CT, et al. Among authors: fryns jp. Genet Couns. 1991;2(2):69-75. Genet Couns. 1991. PMID: 1723604

8

The partial monosomy 10q syndrome: report on two patients and review of the developmental data.

Schrander-Stumpel C, Fryns JP, Hamers G. Schrander-Stumpel C, et al. Among authors: fryns jp. J Ment Defic Res. 1991 Jun;35 ( Pt 3):259-67. doi: 10.1111/j.1365-2788.1991.tb01059.x. J Ment Defic Res. 1991. PMID: 1920392 Review.

9

Association of distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: evidence for nosologic heterogeneity.

Schrander-Stumpel C, Fryns JP, Beemer FA, Rive FA. Schrander-Stumpel C, et al. Among authors: fryns jp. Am J Med Genet. 1991 Mar 15;38(4):557-61. doi: 10.1002/ajmg.1320380412. Am J Med Genet. 1991. PMID: 2063898

10

Trisomy 17p due to a t(8;17) (p23;p11.2)pat translocation. Case report and review of the literature.

Schrander-Stumpel C, Schrander J, Fryns JP, Hamers G. Schrander-Stumpel C, et al. Among authors: fryns jp. Clin Genet. 1990 Feb;37(2):148-52. doi: 10.1111/j.1399-0004.1990.tb03492.x. Clin Genet. 1990. PMID: 2178819 Review.

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