Moog U - Search Results

1

Phenotypic and molecular insights into CASK-related disorders in males.

Moog U, Bierhals T, Brand K, Bautsch J, Biskup S, Brune T, Denecke J, de Die-Smulders CE, Evers C, Hempel M, Henneke M, Yntema H, Menten B, Pietz J, Pfundt R, Schmidtke J, Steinemann D, Stumpel CT, Van Maldergem L, Kutsche K. Moog U, et al. Orphanet J Rare Dis. 2015 Apr 12;10:44. doi: 10.1186/s13023-015-0256-3. Orphanet J Rare Dis. 2015. PMID: 25886057 Free PMC article.

2

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.

3

Oculocerebrocutaneous syndrome: a case report, a follow-up, and differential diagnostic considerations.

Moog U, Krüger G, Stengel B, De Die-Smulders C, Dykstra S, Bleeker-Wagemakers E. Moog U, et al. Genet Couns. 1996;7(4):257-65. Genet Couns. 1996. PMID: 8985729

4

Oculocerebrocutaneous syndrome: report of three additional cases and aetiological considerations.

Moog U, de Die-Smulders C, Systermans JM, Cobben JM. Moog U, et al. Clin Genet. 1997 Oct;52(4):219-25. doi: 10.1111/j.1399-0004.1997.tb02551.x. Clin Genet. 1997. PMID: 9383027

5

Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients.

Moog U, de Die-Smulders CE, Scheffer H, van der Vlies P, Henquet CJ, Jonkman MF. Moog U, et al. Am J Med Genet. 1999 Oct 8;86(4):376-9. doi: 10.1002/(sici)1096-8628(19991008)86:4<376::aid-ajmg12>3.0.co;2-w. Am J Med Genet. 1999. PMID: 10494094

6

Familial dup(8)(p12p21.1): mild phenotypic effect and review of partial 8p duplications.

Moog U, Engelen JJ, Albrechts JC, Baars LG, de Die-Smulders CE. Moog U, et al. Am J Med Genet. 2000 Oct 2;94(4):306-10. doi: 10.1002/1096-8628(20001002)94:4<306::aid-ajmg8>3.0.co;2-v. Am J Med Genet. 2000. PMID: 11038444 Review.

7

Lateral facial clefts: a case report.

de Die-Smulders CE, Moog U, Engelen JJ, Peters JJ, Damen A, Vos W, Fryns JP. de Die-Smulders CE, et al. Among authors: moog u. Genet Couns. 2001;12(2):163-5. Genet Couns. 2001. PMID: 11491312

8

Holoprosencephaly: the Maastricht experience.

Moog U, De Die-Smulders CE, Schrander-Stumpel CT, Engelen JJ, Hamers AJ, Frints S, Fryns JP. Moog U, et al. Genet Couns. 2001;12(3):287-98. Genet Couns. 2001. PMID: 11693794

9

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.

10

Pseudoautosomal inheritance of Léri-Weill syndrome: what does it mean?

Evers C, Heidemann PH, Dunstheimer D, Schulze E, Haag C, Janssen JW, Fischer C, Jauch A, Moog U. Evers C, et al. Among authors: moog u. Clin Genet. 2011 May;79(5):489-94. doi: 10.1111/j.1399-0004.2010.01488.x. Clin Genet. 2011. PMID: 20681991

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