Hansmann I - Search Results

1

Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia.

Stankiewicz P, Thiele H, Schlicker M, Cseke-Friedrich A, Bartel-Friedrich S, Yatsenko SA, Lupski JR, Hansmann I. Stankiewicz P, et al. Among authors: hansmann i. Am J Med Genet A. 2005 Sep 15;138(1):11-7. doi: 10.1002/ajmg.a.30910. Am J Med Genet A. 2005. PMID: 16097007

2

Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation.

Stankiewicz P, Kuechler A, Eller CD, Sahoo T, Baldermann C, Lieser U, Hesse M, Gläser C, Hagemann M, Yatsenko SA, Liehr T, Horsthemke B, Claussen U, Marahrens Y, Lupski JR, Hansmann I. Stankiewicz P, et al. Among authors: hansmann i. Am J Med Genet A. 2006 Mar 1;140(5):442-52. doi: 10.1002/ajmg.a.31096. Am J Med Genet A. 2006. PMID: 16470732

3

Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression.

Stankiewicz P, Thiele H, Giannakudis I, Schlicker M, Baldermann C, Krüger A, Dörr S, Starke H, Hansmann I. Stankiewicz P, et al. Among authors: hansmann i. Am J Med Genet. 2001 Aug 15;102(3):286-92. doi: 10.1002/ajmg.1462. Am J Med Genet. 2001. PMID: 11484209

4

Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus.

Stankiewicz P, Thiele H, Baldermann C, Krüger A, Giannakudis I, Dörr S, Werner N, Kunz J, Rappold GA, Hansmann I. Stankiewicz P, et al. Among authors: hansmann i. Am J Med Genet. 2001 Sep 15;103(1):56-62. doi: 10.1002/ajmg.1512. Am J Med Genet. 2001. PMID: 11562935 Review.

5

Alagille syndrome associated with a paracentric inversion 20p12.2p13 disrupting the JAG1 gene.

Stankiewicz P, Rujner J, Löffler C, Krüger A, Nimmakayalu M, Piłacik B, Krajewska-Walasek M, Gutkowska A, Hansmann I, Giannakudis I. Stankiewicz P, et al. Among authors: hansmann i. Am J Med Genet. 2001 Oct 1;103(2):166-71. doi: 10.1002/ajmg.1531. Am J Med Genet. 2001. PMID: 11568926

6

20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits.

Lalani SR, Thakuria JV, Cox GF, Wang X, Bi W, Bray MS, Shaw C, Cheung SW, Chinault AC, Boggs BA, Ou Z, Brundage EK, Lupski JR, Gentile J, Waisbren S, Pursley A, Ma L, Khajavi M, Zapata G, Friedman R, Kim JJ, Towbin JA, Stankiewicz P, Schnittger S, Hansmann I, Ai T, Sood S, Wehrens XH, Martin JF, Belmont JW, Potocki L. Lalani SR, et al. Among authors: hansmann i. J Med Genet. 2009 Mar;46(3):168-75. doi: 10.1136/jmg.2008.061002. Epub 2008 Sep 23. J Med Genet. 2009. PMID: 18812404 Free PMC article.

7

Genomic structure of karyopherin alpha2 ( KPNA2) within a low-copy repeat on chromosome 17q23-q24 and mutation analysis in patients with Russell-Silver syndrome.

Dörr SN, Schlicker MN, Hansmann IN. Dörr SN, et al. Among authors: hansmann in. Hum Genet. 2001 Nov;109(5):479-86. doi: 10.1007/s004390100605. Epub 2001 Oct 3. Hum Genet. 2001. PMID: 11735022

8

Assignment1 of SUPV3L1 to human chromosome band 10q22.1 by in situ hybridization.

Dmochowska A, Stankiewicz P, Golik P, Stepien PP, Bocian E, Hansmann I, Bartnik E. Dmochowska A, et al. Among authors: hansmann i. Cytogenet Cell Genet. 1998;83(1-2):84-5. doi: 10.1159/000015135. Cytogenet Cell Genet. 1998. PMID: 9925937 No abstract available.

9

The predictive value of dermatoglyphic anomalies in the diagnosis of fra(X)-positive Martin-Bell syndrome (MBS).

Langenbeck U, Varga I, Hansmann I. Langenbeck U, et al. Among authors: hansmann i. Am J Med Genet. 1988 May-Jun;30(1-2):169-75. doi: 10.1002/ajmg.1320300115. Am J Med Genet. 1988. PMID: 3177442

10

High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype.

Callen DF, Eyre H, Lane S, Shen Y, Hansmann I, Spinner N, Zackai E, McDonald-McGinn D, Schuffenhauer S, Wauters J, et al. Callen DF, et al. Among authors: hansmann i. J Med Genet. 1993 Oct;30(10):828-32. doi: 10.1136/jmg.30.10.828. J Med Genet. 1993. PMID: 8230159 Free PMC article.

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