J. Kunz

发表

First Apyrase Splice Variants Have Different Enzymatic Properties*

H. Elsässer, A. Biederbick, C. Kosan, 2000, The Journal of Biological Chemistry.

Visualization of the conservation of synteny between humans and pigs by heterologous chromosomal painting.

W. Vogel, H. Hameister, W. Vogel, 1995, Genomics.

Situs ambiguus in a female fetus with balanced (X;21) translocation – evidence for functional nullisomy of the ZIC3 gene?

H. Rehder, I. Kennerknecht, G. Knudsen, 2005, European Journal of Human Genetics.

Intrachromosomal triplication of distal 7p.

J. Crolla, H. Rivera, J. Kunz, 1998, Journal of medical genetics.

Identification and characterisation of the gene TWIST NEIGHBOR (TWISTNB) located in the microdeletion syndrome 7p21 region

C. Kosan, J. Kunz, 2002, Cytogenetic and Genome Research.

Immunocytochemical localization of phycoerythrin-545 and of a chlorophyll a/c light harvesting complex in Cryptomonas maculata (Cryptophyceae)

W. Wehrmeyer, E. Rhiel, J. Kunz, 1989 .

The breakpoint on 7p in a patient with t(6;7) and craniosynostosis is spanned by a YAC clone containing the D7S503 locus

K. Grzeschik, K. Narahara, J. Kunz, 1995, Human Genetics.

Compound Heterozygous ITGB3 Pathogenic Variants In A Patient With Glanzmann Thrombasthenia

B. Zieger, J. Kunz, M. Bührlen, 2020 .

Regional localization of 725 human chromosome 7-specific yeast artificial chromosome clones.

S. Scherer, H. Heng, L. Tsui, 1994, Genomics.

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

P. Stankiewicz, G. Rappold, I. Hansmann, 2001, American journal of medical genetics.

Saethre-Chotzen syndrome and hyper IgE syndrome in a patient with a novel 11 bp deletion of the TWIST gene.

C. Kosan, J. Kunz, A. Boeck, 2001, American journal of medical genetics.

Abstracts of the 37th American Cytogenetics Conference

C. Steinlein, M. Schmid, S. Antonarakis, 2002, Cytogenetic and Genome Research.

Transmission disequilibrium and sequence variants at the leptin receptor gene in extremely obese German children and adolescents

K. Grzeschik, J. Hebebrand, A. Hinney, 1998, Human Genetics.

A solitary human H3 histone gene on chromosome 1

W. Albig, D. Doenecke, J. Kunz, 1996, Human Genetics.

Tetrasomy 12p (Pallister-Killian syndrome): difficulties in prenatal diagnosis

H. Rehder, J. Kunz, B. Fritz, 2009, Archives of gynecology and obstetrics.

Greig cephalopolysyndactyly syndrome: altered phenotype of a microdeletion syndrome due to the presence of a cytogenetic abnormality

M. Kalff-Suske, P. Williams, H. Kleinert, 1997, Clinical genetics.

Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome.

S. Scherer, L. Tsui, J. Rommens, 1997, Human molecular genetics.

An arrayed library enriched in hncDNA corresponding to transcribed sequences of human chromosome 19: preparation and analysis.

S. Volik, K. Grzeschik, O. Ermolaeva, 1995, Genetic analysis : biomolecular engineering.

Identification of a frameshift mutation in the gene TWISTin a family affected with Robinow-Sorauf syndrome

G. Gillessen‐kaesbach, E. Passarge, J. Kunz, 1999, Journal of Medical Genetics.

Saethre–Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome

F. Hoppe, W. Kress, J. Krauss, 2006, European Journal of Human Genetics.

Human Sp3 transcriptional regulator gene (SP3) maps to chromosome 2q31.

M. Kalff-Suske, K. Grzeschik, G. Suske, 1996, Genomics.

Human Sp4 transcription factor gene (SP4) maps to chromosome 7p15.

M. Kalff-Suske, K. Grzeschik, G. Suske, 1995, Genomics.

Mapping the human growth hormone-releasing hormone receptor (GHRHR) gene to the short arm of chromosome 7 (7p13-p21) near the epidermal growth factor receptor (EGFR) gene.

S. Scherer, N. Vamvakopoulos, J. Kunz, 1994, Genomics.

Human transcription factor SLUG: mutation analysis in patients with neural tube defects and identification of a missense mutation (D119E) in the Slug subfamily-defining region.

M. Koch, C. Kosan, J. Kunz, 1999, Mutation research.

Further evidence for linkage of low–mid frequency hearing impairment to the candidate region on chromosome 4p16.3

A. Ziegler, J. Kunz, I. Böddeker, 2001, Clinical genetics.

Identification of a novel mutation in WFS1 in a family affected by low-frequency hearing impairment.

S. Uebe, J. Kunz, Benjamin Marquez-Klaka, 2003, Mutation research.

Cyclophilin A, the major intracellular receptor for the immunosuppressant cyclosporin A, maps to chromosome 7p11.2-p13: four pseudogenes map to chromosomes 3, 10, 14, and 18.

S. Schuffenhauer, A. Steinkasserer, W. Willenbrink, 1995, Genomics.

A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.

L. Kearney, P. Njølstad, S. Twigg, 1998, American journal of human genetics.

Chrosomal mapping of the human gene for the tricyclic antidepressant-sensitive noradrenaline transporter

H. Bönisch, B. Lingen, M. Brüss, 1993, Human Genetics.

Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and ‐493del10

K. Lange, K. Sperling, B. Zoll, 2003, Human mutation.

The human replacement histone H3.3B gene (H3F3B).

B. Bramlage, K. Gruber, W. Albig, 1995, Genomics.

All known human H1 histone genes except the H1(0) gene are clustered on chromosome 6.

M. Kalff-Suske, K. Grzeschik, W. Albig, 1993, Genomics.

Identiﬁcation of a frameshift mutation in

E. Passarge, J. Kunz, B. Fritz, 1999 .

Tetrasomy 9p Mosaicism Associated with a Normal Phenotype in Two Cases

T. Liehr, I. Papoulidis, S. Orrù, 2012, Cytogenetic and Genome Research.

Six new polymorphic microsatellite markers used for the integration of genetic and physical maps of human chromosome 7

K. Grzeschik, M. Gessler, M. Otto, 1996, Human Genetics.

Tetrasomy 9p Mosaicism Associated with a Normal Phenotype in Two Cases

I. Papoulidis, E. Manolakos, J. Kunz, 2012, Cytogenetic and Genome Research.