Schrander-Stumpel C - Search Results

1

Rett syndrome in adolescent and adult females: clinical and molecular genetic findings.

Smeets E, Schollen E, Moog U, Matthijs G, Herbergs J, Smeets H, Curfs L, Schrander-Stumpel C, Fryns JP. Smeets E, et al. Am J Med Genet A. 2003 Oct 15;122A(3):227-33. doi: 10.1002/ajmg.a.20321. Am J Med Genet A. 2003. PMID: 12966523

2

Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).

Moog U, Smeets EE, van Roozendaal KE, Schoenmakers S, Herbergs J, Schoonbrood-Lenssen AM, Schrander-Stumpel CT. Moog U, et al. Eur J Paediatr Neurol. 2003;7(1):5-12. doi: 10.1016/s1090-3798(02)00134-4. Eur J Paediatr Neurol. 2003. PMID: 12615169 Review.

3

Rett syndrome and long-term disorder profile.

Smeets EE, Chenault M, Curfs LM, Schrander-Stumpel CT, Frijns JP. Smeets EE, et al. Am J Med Genet A. 2009 Feb;149A(2):199-205. doi: 10.1002/ajmg.a.32491. Am J Med Genet A. 2009. PMID: 19133691

4

Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice.

Halbach NS, Smeets EE, van den Braak N, van Roozendaal KE, Blok RM, Schrander-Stumpel CT, Frijns JP, Maaskant MA, Curfs LM. Halbach NS, et al. Am J Med Genet A. 2012 Feb;158A(2):340-50. doi: 10.1002/ajmg.a.34418. Epub 2011 Dec 21. Am J Med Genet A. 2012. PMID: 22190343

5

PTPN11 mutations in LEOPARD syndrome.

Legius E, Schrander-Stumpel C, Schollen E, Pulles-Heintzberger C, Gewillig M, Fryns JP. Legius E, et al. J Med Genet. 2002 Aug;39(8):571-4. doi: 10.1136/jmg.39.8.571. J Med Genet. 2002. PMID: 12161596 Free PMC article.

6

Rett syndrome in females with CTS hot spot deletions: a disorder profile.

Smeets E, Terhal P, Casaer P, Peters A, Midro A, Schollen E, van Roozendaal K, Moog U, Matthijs G, Herbergs J, Smeets H, Curfs L, Schrander-Stumpel C, Fryns JP. Smeets E, et al. Am J Med Genet A. 2005 Jan 15;132A(2):117-20. doi: 10.1002/ajmg.a.30410. Am J Med Genet A. 2005. PMID: 15578576

7

Subtelomeric chromosome aberrations: still a lot to learn.

Moog U, Arens YH, van Lent-Albrechts JC, Huijts PE, Smeets EE, Schrander-Stumpel CT, Engelen JJ. Moog U, et al. Clin Genet. 2005 Nov;68(5):397-407. doi: 10.1111/j.1399-0004.2005.00506.x. Clin Genet. 2005. PMID: 16207207

8

Aging in people with specific genetic syndromes: Rett syndrome.

Halbach NS, Smeets EE, Schrander-Stumpel CT, van Schrojenstein Lantman de Valk HH, Maaskant MA, Curfs LM. Halbach NS, et al. Am J Med Genet A. 2008 Aug 1;146A(15):1925-32. doi: 10.1002/ajmg.a.32361. Am J Med Genet A. 2008. PMID: 18627042

9

MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients.

Moog U, Van Roozendaal K, Smeets E, Tserpelis D, Devriendt K, Buggenhout GV, Frijns JP, Schrander-Stumpel C. Moog U, et al. Brain Dev. 2006 Jun;28(5):305-10. doi: 10.1016/j.braindev.2005.10.007. Epub 2006 Jan 10. Brain Dev. 2006. PMID: 16376510

10

Acampomelic campomelic syndrome.

Moog U, Jansen NJ, Scherer G, Schrander-Stumpel CT. Moog U, et al. Am J Med Genet. 2001 Dec 1;104(3):239-45. Am J Med Genet. 2001. PMID: 11754051

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