Schrander JJ - 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: schrander jj, schrander stumpel ct. J Med Genet. 1999 Nov;36(11):856-8. J Med Genet. 1999. PMID: 10544232 Free PMC article.

2

Auditory canal atresia, humeroscapular synostosis, and other skeletal abnormalities: confirmation of the autosomal recessive "SAMS" syndrome.

ter Heide H, Bulstra SK, Reekers A, Schrander JJ, Schrander-Stumpel CT. ter Heide H, et al. Among authors: schrander jj, schrander stumpel ct. Am J Med Genet. 2002 Jul 15;110(4):359-64. doi: 10.1002/ajmg.10441. Am J Med Genet. 2002. PMID: 12116210

3

Adducted thumbs: a clinical clue to genetic diagnosis.

Verhagen JM, Schrander-Stumpel CT, Blezer MM, Weber JW, Schrander JJ, Rubio-Gozalbo ME, Bakker JA, Stegmann AP, Vos YJ, Frints SG. Verhagen JM, et al. Among authors: schrander jj. Eur J Med Genet. 2013 Mar;56(3):153-8. doi: 10.1016/j.ejmg.2012.11.004. Epub 2012 Dec 7. Eur J Med Genet. 2013. PMID: 23220544

4

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. Clin Genet. 1990 Feb;37(2):148-52. doi: 10.1111/j.1399-0004.1990.tb03492.x. Clin Genet. 1990. PMID: 2178819 Review.

5

Caudal deficiency sequence in 7q terminal deletion.

Schrander-Stumpel C, Schrander J, Fryns JP, Hamers G. Schrander-Stumpel C, et al. Am J Med Genet. 1988 Jul;30(3):757-61. doi: 10.1002/ajmg.1320300309. Am J Med Genet. 1988. PMID: 3055986 Review.

6

Opitz BBBG syndrome: new family with late-onset, serious complication.

Schrander J, Schrander-Stumpel C, Berg J, Frias JL. Schrander J, et al. Clin Genet. 1995 Aug;48(2):76-9. doi: 10.1111/j.1399-0004.1995.tb04059.x. Clin Genet. 1995. PMID: 7586655

7

A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irises.

Spruijt L, Engelen JJ, Bruinen-Smeijsters IP, Albrechts JC, Schrander J, Schrander-Stumpel CT. Spruijt L, et al. Among authors: schrander stumpel ct, schrander j. Am J Med Genet A. 2004 Sep 1;129A(3):312-5. doi: 10.1002/ajmg.a.30185. Am J Med Genet A. 2004. PMID: 15326635

8

Deletion of the long arm of chromosome 6: two new patients and literature review.

Evers LJ, Schrander-Stumpel CT, Engelen JJ, Hoorntje TM, Pulles-Heintzberger CF, Schrander JJ, Albrechts JC, Peters J, Fryns JP. Evers LJ, et al. Among authors: schrander jj, schrander stumpel ct. Clin Genet. 1996 Sep;50(3):138-44. doi: 10.1111/j.1399-0004.1996.tb02368.x. Clin Genet. 1996. PMID: 8946112

9

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: schrander jj. Genet Couns. 1991;2(2):69-75. Genet Couns. 1991. PMID: 1723604

10

Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.

Klaassens M, Reinstein E, Hilhorst-Hofstee Y, Schrander JJ, Malfait F, Staal H, ten Have LC, Blaauw J, Roggeveen HC, Krakow D, De Paepe A, van Steensel MA, Pals G, Graham JM Jr, Schrander-Stumpel CT. Klaassens M, et al. Among authors: schrander jj. Clin Genet. 2012 Aug;82(2):121-30. doi: 10.1111/j.1399-0004.2011.01758.x. Epub 2011 Aug 24. Clin Genet. 2012. PMID: 21801164 Free PMC article.

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