Kujat A - Search Results

1

A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.

Heinritz W, Zweier C, Froster UG, Strenge S, Kujat A, Syrbe S, Rauch A, Schuster V. Heinritz W, et al. Among authors: kujat a. Am J Med Genet A. 2006 Jun 1;140(11):1223-7. doi: 10.1002/ajmg.a.31267. Am J Med Genet A. 2006. PMID: 16688751

2

Molecular and cytogenetic characterization of a non-mosaic isodicentric Y chromosome in a patient with Klinefelter syndrome.

Heinritz W, Kotzot D, Heinze S, Kujat A, Kleemann WJ, Froster UG. Heinritz W, et al. Among authors: kujat a. Am J Med Genet A. 2005 Jan 15;132A(2):198-201. doi: 10.1002/ajmg.a.30446. Am J Med Genet A. 2005. PMID: 15578587

3

Dizygotic twin boys born after ICSI with maternal meiosis I-derived free trisomy 21 in the first and multiple congenital anomalies in the second: chance or common aetiology?

Kotzot D, Schönekerl S, Faber R, Hausen D, Kujat A, Froster UG. Kotzot D, et al. Among authors: kujat a. Hum Reprod. 2002 Apr;17(4):912-5. doi: 10.1093/humrep/17.4.912. Hum Reprod. 2002. PMID: 11925380

4

DHPLC mutation analysis of phenylketonuria.

Bräutigam S, Kujat A, Kirst P, Seidel J, Lüleyap HU, Froster UG. Bräutigam S, et al. Among authors: kujat a. Mol Genet Metab. 2003 Mar;78(3):205-10. doi: 10.1016/s1096-7192(02)00228-7. Mol Genet Metab. 2003. PMID: 12649065

5

Renal malformations in deletion 22q11.2 patients.

Kujat A, Schulz MD, Strenge S, Froster UG. Kujat A, et al. Am J Med Genet A. 2006 Jul 15;140(14):1601-2. doi: 10.1002/ajmg.a.31289. Am J Med Genet A. 2006. PMID: 16761295 No abstract available.

6

A microdeletion 22q11.2 can resemble Shprintzen-Goldberg omphalocele syndrome.

Strenge S, Kujat A, Zelante L, Froster UG. Strenge S, et al. Among authors: kujat a. Am J Med Genet A. 2006 Dec 15;140(24):2838-9. doi: 10.1002/ajmg.a.31534. Am J Med Genet A. 2006. PMID: 17103454 No abstract available.

7

Prenatal diagnosis and genetic counseling in a case of spina bifida in a family with Waardenburg syndrome type I.

Kujat A, Veith VP, Faber R, Froster UG. Kujat A, et al. Fetal Diagn Ther. 2007;22(2):155-8. doi: 10.1159/000097117. Epub 2006 Nov 28. Fetal Diagn Ther. 2007. PMID: 17139175

8

Different phenotypes including gynecological cancer in three female patients with Peutz-Jeghers syndrome and mutations in the STK11 gene.

Heinritz W, Strenge S, Kujat A, Hockel M, Froster UG. Heinritz W, et al. Among authors: kujat a. Onkologie. 2008 Nov;31(11):625-8. doi: 10.1159/000162284. Epub 2008 Oct 27. Onkologie. 2008. PMID: 19145097

9

Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause?

Utsch B, DiFeo A, Kujat A, Karle S, Schuster V, Lenk H, Jacobs U, Müller M, Dötsch J, Rascher W, Reutter H, Martignetti JA, Ludwig M, Tröbs RB. Utsch B, et al. Among authors: kujat a. Am J Med Genet A. 2006 Oct 15;140(20):2251-3. doi: 10.1002/ajmg.a.31454. Am J Med Genet A. 2006. PMID: 16969870 No abstract available.

10

Implications of FISH investigations in MIDAS syndrome associated with a 46,XX,t(X;Y) karyotype.

Kotzot D, Hoffmann K, Kujat A, Holland H, Froster UG, Mücke J. Kotzot D, et al. Among authors: kujat a. Am J Med Genet. 2002 Nov 15;113(1):108-10. doi: 10.1002/ajmg.10718. Am J Med Genet. 2002. PMID: 12400076 No abstract available.

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