Apacik C[Author] - Search Results

Year	Number of Results
1992	1
1993	1
1996	1
1997	1
1999	2
2000	1
2001	2
2024	0

1

Formation of supernumerary euchromatic short arm isochromosomes: parent and cell stage of origin in new cases and review of the literature.

Eggermann T, Schubert R, Engels H, Apacik C, Stengel-Rutkowski S, Haefliger C, Emiliani V, Ricagni C, Schwanitz G. Eggermann T, et al. Among authors: apacik c. Ann Genet. 1999;42(2):75-80. Ann Genet. 1999. PMID: 10434120 Review.

2

Multiplex-FISH for pre- and postnatal diagnostic applications.

Uhrig S, Schuffenhauer S, Fauth C, Wirtz A, Daumer-Haas C, Apacik C, Cohen M, Müller-Navia J, Cremer T, Murken J, Speicher MR. Uhrig S, et al. Among authors: apacik c. Am J Hum Genet. 1999 Aug;65(2):448-62. doi: 10.1086/302508. Am J Hum Genet. 1999. PMID: 10417288 Free PMC article.

3

Two brothers with multiple congenital anomalies and mental retardation due to disomy (X)(q12-->q13.3) inherited from the mother.

Apacik C, Cohen M, Jakobeit M, Schmucker B, Schuffenhauer S, Thurn und Taxis E, Genzel-Boroviczeny O, Stengel-Rutkowski S. Apacik C, et al. Clin Genet. 1996 Aug;50(2):63-73. doi: 10.1111/j.1399-0004.1996.tb02350.x. Clin Genet. 1996. PMID: 8937763 Review.

4

Partial trisomy 8q. Two case reports with maternal translocation and inverted insertion: phenotype analyses and reflections on the risk.

Stengel-Rutkowski S, Lohse K, Herzog C, Apacik C, Couturier J, Albert A, Belohradsky B. Stengel-Rutkowski S, et al. Among authors: apacik c. Clin Genet. 1992 Oct;42(4):178-85. doi: 10.1111/j.1399-0004.1992.tb03234.x. Clin Genet. 1992. PMID: 1424241 Review.

5

Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.

Lüdecke HJ, Schaper J, Meinecke P, Momeni P, Gross S, von Holtum D, Hirche H, Abramowicz MJ, Albrecht B, Apacik C, Christen HJ, Claussen U, Devriendt K, Fastnacht E, Forderer A, Friedrich U, Goodship TH, Greiwe M, Hamm H, Hennekam RC, Hinkel GK, Hoeltzenbein M, Kayserili H, Majewski F, Mathieu M, McLeod R, Midro AT, Moog U, Nagai T, Niikawa N, Orstavik KH, Plöchl E, Seitz C, Schmidtke J, Tranebjaerg L, Tsukahara M, Wittwer B, Zabel B, Gillessen-Kaesbach G, Horsthemke B. Lüdecke HJ, et al. Among authors: apacik c. Am J Hum Genet. 2001 Jan;68(1):81-91. doi: 10.1086/316926. Epub 2000 Dec 7. Am J Hum Genet. 2001. PMID: 11112658 Free PMC article.

6

Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.

Brown LY, Odent S, David V, Blayau M, Dubourg C, Apacik C, Delgado MA, Hall BD, Reynolds JF, Sommer A, Wieczorek D, Brown SA, Muenke M. Brown LY, et al. Among authors: apacik c. Hum Mol Genet. 2001 Apr 1;10(8):791-6. doi: 10.1093/hmg/10.8.791. Hum Mol Genet. 2001. PMID: 11285244

7

The fragile-X phenotype. Computer assisted analysis of the dysmorphological features and discrimination from the Sotos phenotype.

Stengel-Rutkowski S, Apacik C, Kreyenberg K, Jakobeit M, Schmalenberger B, Fahsold R. Stengel-Rutkowski S, et al. Among authors: apacik c. Genet Couns. 1993;4(1):51-8. Genet Couns. 1993. PMID: 8471222

8

Tetrasomy 18p caused by paternal meiotic nondisjunction.

Eggermann T, Engels H, Apacik C, Moskalonek B, Müller-Navia J, Schwanitz G, Stengel-Rutkowski S. Eggermann T, et al. Among authors: apacik c. Eur J Hum Genet. 1997 May-Jun;5(3):175-7. Eur J Hum Genet. 1997. PMID: 9272743 No abstract available.

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