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1

Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature

Mary, Laura, Scheidecker, Sophie, Kohler, Monique, Lombardi, Maria-Paola, Delezoide, Anne-Lise, Auberger, Elisabeth, Triau, Stéphane, Colin, Estelle, Gerard, Marion, Grzeschik, Karl-Heinz, Dollfus, Hé

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 747 KB

english, 2016

2

Spectrum of the acrocallosal syndrome

Rainer Koenig, Alexia Bach, Ulrike Woelki, Karl-Heinz Grzeschik, Sigrun Fuchs

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 308 KB

english, 2002

3

The precursor of Alzheimer's disease amyloid A4 protein resembles a cell-surface receptor

Kang, Jie, Lemaire, Hans-Georg, Unterbeck, Axel, Salbaum, J. Michael, Masters, Colin L., Grzeschik, Karl-Heinz, Multhaup, Gerd, Beyreuther, Konrad, Müller-Hill, Benno

Journal:

Year:

1987

File:

PDF, 466 KB

1987

4

The human lysozyme gene : Sequence organization and chromosomal localization

Christoph W. B. PETERS, Ulrich KRUSE, Renate POLLWEIN, Karl-Heinz GRZESCHIK, Albrecht E. SIPPEL

Journal:

Year:

1989

Language:

english

File:

PDF, 1.47 MB

english, 1989

5

All Known Human H1 Histone Genes Except the H10 Gene Are Clustered on Chromosome 6

Werner Albig, Birgit Drabent, Jürgen Kunz, Martha Kalff-Suske, Karl-Heinz Grzeschik, Detlef Doenecke

Journal:

Year:

1993

File:

PDF, 554 KB

1993

6

Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: Not a new syndrome, but two dominant mutations (GLI3 E543X andCOL2A1 G973R) in the same individual

Sobetzko, Diana, Eich, Georg, Kalff-Suske, Martha, Grzeschik, Karl-Heinz, Superti-Furga, Andrea

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 218 KB

english, 2000

7

Mutations in the NSDHL gene, encoding a 3?-hydroxysteroid dehydrogenase, cause CHILD syndrome

K�nig, Arne, Happle, Rudolf, Bornholdt, Dorothea, Engel, Hartmut, Grzeschik, Karl-Heinz

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 537 KB

english, 2000

8

Behold the CHILD, it's only one: CHILD syndrome is not caused by deficiency of 3β-hydroxysteroid-Δ8, Δ7-isomerase

Rudolf Happle, Arne König, Karl-Heinz Grzeschik

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 46 KB

english, 2000

9

Tandem pore domain K+-channel TASK-3 (KCNK9) and idiopathic absence epilepsies

Colette Kananura, Thomas Sander, Sindhu Rajan, Regina Preisig-Müller, Karl-Heinz Grzeschik, Jürgen Daut, Christian Derst, Ortrud K. Steinlein

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 88 KB

english, 2002

10

Two mosaic cases with nonfluorescent Y chromosome analysed with Y-specific DNA probes

Bogdan Kałużewski, Lucjusz Jakubowski, Maria Dȩbiec-Rychter, Karl-Heinz Grzeschik, Janusz Limon, Zenon Gibas, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 968 KB

english, 1988

11

A novel type of autosomal recessive syndactyly: Clinical and molecular studies in a family of Pakistani origin

Sajid Malik, Muhammad Arshad, Muhammad Amin-ud-Din, Frank Oeffner, Astrid Dempfle, Sayedul Haque, Manuela C. Koch, Wasim Ahmad, Karl-Heinz Grzeschik

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 173 KB

english, 2004

12

Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3

Sajid Malik, Ferda E. Percin, Wasim Ahmad, Sitki Percin, Nurten A. Akarsu, Manuela C. Koch, Karl-Heinz Grzeschik

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 172 KB

english, 2005

13

Clinical impact of chromosome I aberrations in neuroblastoma: A metaphase and interphase cytogenetic study

Holger Christiansen, Joachim Schestag, Nina M. Christiansen, Karl-Heinz Grzeschik, Prof. Dr. Fritz Lampert

Journal:

Genes, Chromosomes and Cancer

Year:

1992

Language:

english

File:

PDF, 737 KB

english, 1992

14

Human intronic enhancers control distinct sub-domains ofGli3expression during mouse CNS and limb development

Amir A Abbasi, Zissis Paparidis, Sajid Malik, Fiona Bangs, Ansgar Schmidt, Sabine Koch, Javier Lopez-Rios, Karl-Heinz Grzeschik

Journal:

BMC Developmental Biology

Year:

2010

Language:

english

File:

PDF, 3.02 MB

english, 2010

15

Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences

Sajid Malik, KM Girisha, Muhammad Wajid, Akhilesh K Roy, Shubha R Phadke, Sayedul Haque, Wasim Ahmad, Manuela C Koch, Karl-Heinz Grzeschik

Journal:

BMC Medical Genetics

Year:

2007

Language:

english

File:

PDF, 1.71 MB

english, 2007

16

The gene for 17beta-hydroxysteroid dehydrogenase maps to human chromosome 17, bands q12–q21, and shows an RFLP withScaI

Robert Winqvist, Hellevi Peltoketo, Veli Isomaa, Karl-Heinz Grzeschik, Arto Mannermaa, Reijo Vihko

Journal:

Year:

1990

Language:

english

File:

PDF, 443 KB

english, 1990

17

Isolation and regional localization of a large collection (2,000) of single-copy DNA fragments on human chromosome 3 for mapping and cloning tumor suppressor genes

Michael I. Lerman, Farida Latif, Gladys M. Glenn, Lambert N. Daniel, Hiltrud Brauch, Shigeto Hosoe, Krista Hampsch, John Delisio, Mary Lou Orcutt, O. Wesley McBride, Karl-Heinz Grzeschik, Takashi Taka

Journal:

Year:

1991

Language:

english

File:

PDF, 1.99 MB

english, 1991

18

Regional assignment of 41 human DNA fragments on chromosome 7 by means of a somatic cell hybrid panel

Anke Jobs, Dirk Klein-Bölting, Almuth-Sigrun Jandel, Albert Driesel, Klaus Olek, Karl-Heinz Grzeschik

Journal:

Year:

1990

Language:

english

File:

PDF, 458 KB

english, 1990

19

Confirmation of the localization of the human recombination activating gene 1 (RAG1) to chromosome 11p13

Klaus Schwarz, Horst Hameister, Manfred Gessler, Karl-Heinz Grzeschik, Thomas E. Hansen-Hagge, Claus R. Bartram

Journal:

Year:

1994

Language:

english

File:

PDF, 296 KB

english, 1994

20

The potassium channel gene HK1 maps to human chromosome 11p14.1, close to the FSHB gene

Manfred Gessler, Andrew Grape, Karl-Heinz Grzeschik, Olaf Pongs

Journal:

Year:

1992

Language:

english

File:

PDF, 313 KB

english, 1992

21

Assignment of the gene for human spasmolytic protein (hSP/SML1) to chromosome 21

Birgit Theisinger, Cornelius Welter, Karl-Heinz Grzeschik, Nikolaus Blin

Journal:

Year:

1992

Language:

english

File:

PDF, 186 KB

english, 1992

22

Isolation and characterization of a cosmid contig for the GCPS gene region

Andrea Vortkamp, Christiane Heid, Manfred Gessler, Karl-Heinz Grzeschik

Journal:

Year:

1995

Language:

english

File:

PDF, 888 KB

english, 1995

23

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

Kazushiro Tsuji, Kouji Narahara, Yuji Yokoyama, Karl-Heinz Grzeschik, Jürgen Kunz

Journal:

Year:

1995

Language:

english

File:

PDF, 1.12 MB

english, 1995

24

Assignment of a gene for human mitochondrial isocitrate dehydrogenase (ICD-M, EC 1. 1. 1. 41) to chromosome 15

Karl-Heinz Grzeschik

Journal:

Year:

1976

Language:

english

File:

PDF, 393 KB

english, 1976

25

Utilization of somatic cell hybrids for genetic studies in man

Karl-Heinz Grzeschik

Journal:

Year:

1973

Language:

english

File:

PDF, 2.72 MB

english, 1973

26

Assignment of adenosine deaminase complexing protein (ADCP) gene(s) to human chromosome 2 in rodent-human somatic cell hybrids

Elly Herbschleb-Voogt, Karl-Heinz Grzeschik, Peter L. Pearson, P. Meera Khan

Journal:

Year:

1981

Language:

english

File:

PDF, 892 KB

english, 1981

27

Syrian Hamster-human somatic cell hybrids: Isolation and characterization

Karl-Heinz Grzeschik

Journal:

Year:

1973

Language:

english

File:

PDF, 511 KB

english, 1973

28

Different patterns of X chromosome inactivity in lymphocytes and fibroblasts of a human balanced X; autosome translocation

Bernard Hellkuhl, Albert Chapelle, Karl-Heinz Grzeschik

Journal:

Year:

1982

Language:

english

File:

PDF, 889 KB

english, 1982

29

Assignment of the gene encoding the catalytic subunit Cβ of CAMP-dependent protein kinase to the p36 band on chromosome

Jacques Simard, Dominique Bérubé, Märten Sandberg, Karl-Heinz Grzeschik, Richard Gagné, Vidar Hansson, Tore Jahnsen

Journal:

Year:

1992

Language:

english

File:

PDF, 614 KB

english, 1992

30

The molecular genetic approach to ”Bartter’s syndrome”

Lothar Károlyi, Manuela C. Koch, Karl-Heinz Grzeschik, Hannsjörg W. Seyberth

Journal:

Journal of Molecular Medicine

Year:

1998

Language:

english

File:

PDF, 490 KB

english, 1998

31

Cloning, structure and assignment to Chromosome 19q13 of the human Kir2.4 inwardly rectifying potassium channel gene (KCNJ14)

Christoph Töpert, Frank Döring, Christian Derst, Jürgen Daut, Karl-Heinz Grzeschik, Andreas Karschin

Journal:

Mammalian Genome

Year:

2000

Language:

english

File:

PDF, 225 KB

english, 2000

32

The neurobeachin gene (Nbea) identifies a new region of homology between mouse central Chromosome 3 and human Chromosome 13q13

Debra J. Gilbert, Hartmut Engel, Xiaolu Wang, Karl-Heinz Grzeschik, Neal G. Copeland, Nancy A. Jenkins, Manfred W. Kilimann

Journal:

Mammalian Genome

Year:

1999

Language:

english

File:

PDF, 93 KB

english, 1999

33

Congenital, low penetrance lymphedema of lower limbs maps to chromosome 6q16.2–q22.1 in an inbred Pakistani family

Sajid Malik, Karl-Heinz Grzeschik

Journal:

Year:

2008

Language:

english

File:

PDF, 576 KB

english, 2008

34

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

H. Roth, Tina Korn, Karen Rosenkranz, Anke Hinney, Andreas Ziegler, Jürgen Kunz, Wolfgang Siegfried, Hermann Mayer, Johannes Hebebrand, Karl-Heinz Grzeschik

Journal:

Year:

1998

Language:

english

File:

PDF, 84 KB

english, 1998

35

Gitelman’s syndrome is genetically distinct from other forms of Bartter’s syndrome

Lothar Károlyi, Andreas Ziegler, Martin Pollak, Michael Fischbach, Karl-Heinz Grzeschik, Manuela C. Koch, Hannsjörg W. Seyberth

Journal:

Pediatric Nephrology

Year:

1996

Language:

english

File:

PDF, 410 KB

english, 1996

36

The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly

Philippe Debeer, Koen Devriendt, Luc De Smet, Thomy deRavel, Antonio Gonzalez-Meneses, Karl-Heinz Grzeschik, Jean-Pierre Fryns

Journal:

Journal of Children's Orthopaedics

Year:

2007

Language:

english

File:

PDF, 339 KB

english, 2007

37

Ultraconserved non-coding sequence element controls a subset of spatiotemporal GLI3 expression

Zissis Paparidis, Amir Ali Abbasi, Sajid Malik, Debbie K. Goode, Heather Callaway, Greg Elgar, Esther DeGraaff, Javier Lopez-Rios, Rolf Zeller, Karl-Heinz Grzeschik

Journal:

Development, Growth & Differentiation

Year:

2007

Language:

english

File:

PDF, 1.59 MB

english, 2007

38

Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome Due to Mutation of the Gene MBTPS2 in a Large Australian Kindred

Andrew Ming, Rudolf Happle, Karl-Heinz Grzeschik, Gayle Fischer

Journal:

Pediatric Dermatology

Year:

2009

Language:

english

File:

PDF, 224 KB

english, 2009

39

Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome

Frank Oeffner, Francisco Martinez, Julie Schaffer, Aïcha Salhi, Sandra Monfort, Silvestre Oltra, Ulrike Neidel, Dorothea Bornholdt, Bregje van Bon, Arne König, Rudolf Happle, Karl-Heinz Grzeschik

Journal:

Experimental Dermatology

Year:

2011

Language:

english

File:

PDF, 135 KB

english, 2011

40

Chromosome localization in normal human cells and neuroblastomas of a gene related to c-myc

Schwab, Manfred, Varmus, Harold E., Bishop, J. Michael, Grzeschik, Karl-Heinz, Naylor, Susan L., Sakaguchi, Alan Y., Brodeur, Garrett, Trent, Jeffrey

Journal:

Year:

1984

File:

PDF, 538 KB

1984

41

Hepatitis B virus DNA integration in a sequence homologous to v-erb-A and steroid receptor genes in a hepatocellular carcinoma

Dejean, Anne, Bougueleret, Lydie, Grzeschik, Karl-Heinz, Tiollais, Pierre

Journal:

Year:

1986

File:

PDF, 359 KB

1986

42

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

Vortkamp, Andrea, Gessler, Manfred, Grzeschik, Karl-Heinz

Journal:

Year:

1991

File:

PDF, 197 KB

1991

43

An Xp11.23 deletion containing PORCN may also cause angioma serpiginosum, a cosmetic skin disease associated with extreme skewing of X-inactivation

Houge, Gunnar, Oeffner, Frank, Grzeschik, Karl-Heinz

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 48 KB

english, 2008

44

Mutation in GLI3 in postaxial polydactyly type A

Radhakrishna, Uppala, Wild, Anja, Grzeschik, Karl-Heinz, Antonarakis, Stylianos E.

Journal:

Nature Genetics

Year:

1997

File:

PDF, 465 KB

1997

45

Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia

Grzeschik, Karl-Heinz, Bornholdt, Dorothea, Oeffner, Frank, König, Arne, del Carmen Boente, María, Enders, Herbert, Fritz, Barbara, Hertl, Michael, Grasshoff, Ute, Höfling, Katja

Journal:

Nature Genetics

Year:

2007

Language:

english

File:

PDF, 263 KB

english, 2007

46

The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome

Duba, Hans-Christoph, Doll, Andreas, Neyer, Michael, Erdel, Martin, Mann, Christian, Hammerer, Ignaz, Utermann, Gerd, Grzeschik, Karl-Heinz

Journal:

European Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 510 KB

english, 2002

47

Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31

Malik, Sajid, Schott, Jörg, Ali, Syed Wajahat, Oeffner, Frank, Amin-ud-Din, Muhammad, Ahmad, Wasim, Grzeschik, Karl-Heinz, Koch, Manuela C

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 301 KB

english, 2005

48

Regional assignment of human protooncogenec-mybto 6q21→qter

Bernhard U. Zabel, Susan L. Naylor, Karl-Heinz Grzeschik, Alan Y. Sakaguchi

Journal:

Somatic Cell and Molecular Genetics

Year:

1984

Language:

english

File:

PDF, 447 KB

english, 1984

49

Chromosome assignment of genes encoding theαandΒsubunits of glycoprotein hormones in man and mouse

Susan L. Naylor, William W. Chin, Howard M. Goodman, Peter A. Lalley, Karl-Heinz Grzeschik, Alan Y. Sakaguchi

Journal:

Somatic Cell and Molecular Genetics

Year:

1983

Language:

english

File:

PDF, 1.24 MB

english, 1983

50

Assignment of a structural gene forβ-glucuronidase to human chromosome C7

Karl-Heinz Grzeschik

Journal:

Somatic Cell and Molecular Genetics

Year:

1976

Language:

english

File:

PDF, 605 KB

english, 1976