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1

A high density of X-linked genes for general cognitive ability: a run-away process shaping human evolution?

Ulrich Zechner, Monika Wilda, Hildegard Kehrer-Sawatzki, Walther Vogel, Rainald Fundele, Horst Hameister

Journal:

Trends in Genetics

Year:

2001

Language:

english

File:

PDF, 90 KB

english, 2001

2

Do the constraints of human speciation cause expression of the same set of genes in brain, testis, and placenta?

Wilda, M., B&auml, chner, D., Zechner, U., Kehrer-Sawatzki, H., Vogel, W., Hameister, H.

Journal:

Cytogenetic and Genome Research

Year:

2000

Language:

english

File:

PDF, 140 KB

english, 2000

3

Enrichment of brain-related genes on the mammalian X chromosome is ancient and predates the divergence of synapsid and sauropsid lineages

Claus Kemkemer, Matthias Kohn, Hildegard Kehrer-Sawatzki, Reinald H. Fundele, Horst Hameister

Journal:

Chromosome Research

Year:

2009

Language:

english

File:

PDF, 307 KB

english, 2009

4

Somatic mosaicism of a greater than 1.7-Mb deletion of genomic DNA involving the entireNF1 gene as verified by FISH: Further evidence for a contiguous gene syndrome in 17q11.2

Streubel, Berthold, Latta, Elisabeth, Kehrer-Sawatzki, Hildegard, Hoffmann, Georg F., Fonatsch, Christa, Rehder, Helga

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 502 KB

english, 1999

5

Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies

Birgitta Gläser, Eva Rossier, Gotthold Barbi, Loredana Delle Chiaie, Christian Blank, Walther Vogel, Hildegard Kehrer-Sawatzki

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 135 KB

english, 2003

6

Molecular cytogenetic analysis of a de novo balanced X;autosome translocation: Evidence for predominant inactivation of the derivative X chromosome in a girl with multiple malformations

B. Gläser, K. Shirneshan, K. Bink, J. Wirth, H. Kehrer-Sawatzki, U. Bartz, B. Zoll, Stefan K. Bohlander

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 225 KB

english, 2004

7

Supernumerary der(1) marker chromosome derived from a ring chromosome 1 which has retained the original centromere and euchromatin from 1q21.1 → q21.3 with substantial loss of 1q12 heterochromatin in a female with dysmorphic features and psychomotoric developmental delay

G. Barbi, Ch. Spaich, S. Adolph, E. Rossier, H. Kehrer-Sawatzki

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 210 KB

english, 2005

8

Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers

Sylwia Chocholska, Eva Rossier, Gotthold Barbi, Hildegard Kehrer-Sawatzki

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 219 KB

english, 2006

9

Absence of cutaneous neurofibromas in an NF1 patient with an atypical deletion partially overlapping the common 1.4 Mb microdeleted region

Hildegard Kehrer-Sawatzki, Eva Schmid, Carsten Fünsterer, Lan Kluwe, Victor-Felix Mautner

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 210 KB

english, 2008

10

What a difference copy number variation makes

Hildegard Kehrer-Sawatzki

Journal:

Year:

2007

Language:

english

File:

PDF, 55 KB

english, 2007

11

Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse

Dieter E. Jenne, Sigrid Tinschert, Michael O. Dorschner, Horst Hameister, Karen Stephens, Hildegard Kehrer-Sawatzki

Journal:

Genes, Chromosomes and Cancer

Year:

2003

Language:

english

File:

PDF, 1005 KB

english, 2003

12

Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients

K. Wimmer, S. Yao, K. Claes, H. Kehrer-Sawatzki, S. Tinschert, T. De Raedt, E. Legius, T. Callens, H. Beiglböck, O. Maertens, L. Messiaen

Journal:

Genes, Chromosomes and Cancer

Year:

2006

Language:

english

File:

PDF, 1.10 MB

english, 2006

13

Internal tumor burden in neurofibromatosis Type I patients with large NF1 deletions

Lan Kluwe, Rosa Nguyen, Julia Vogt, Kathrin Bengesser, Tanja Mussotter, Reinhard E. Friedrich, Kimberly Jett, Hildegard Kehrer-Sawatzki, Victor-Felix Mautner

Journal:

Genes, Chromosomes and Cancer

Year:

2012

Language:

english

File:

PDF, 775 KB

english, 2012

14

Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene

Lan Kluwe, Reiner Siebert, Stefan Gesk, Reinhard E. Friedrich, Sigrid Tinschert, Hildegard Kehrer-Sawatzki, Victor-F. Mautner

Journal:

Year:

2004

Language:

english

File:

PDF, 253 KB

english, 2004

15

Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee (Pan troglodytes)

Hildegard Kehrer-Sawatzki, Catharina Sandig, Nadia Chuzhanova, Violaine Goidts, Justyna M. Szamalek, Simone Tänzer, Stefan Müller, Matthias Platzer, David N. Cooper, Horst Hameister

Journal:

Year:

2005

Language:

english

File:

PDF, 482 KB

english, 2005

16

Understanding the recent evolution of the human genome: insights from human–chimpanzee genome comparisons

Hildegard Kehrer-Sawatzki, David N. Cooper

Journal:

Year:

2007

Language:

english

File:

PDF, 452 KB

english, 2007

17

Extended runs of homozygosity at 17q11.2: an association with type-2 NF1 deletions?

Angelika C. Roehl, David N. Cooper, Lan Kluwe, Andreas Helbrich, Katharina Wimmer, Josef Högel, Victor-Felix Mautner, Hildegard Kehrer-Sawatzki

Journal:

Year:

2010

Language:

english

File:

PDF, 490 KB

english, 2010

18

Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event

Christina Ganster, Annekatrin Wernstedt, Hildegard Kehrer-Sawatzki, Ludwine Messiaen, Konrad Schmidt, Nils Rahner, Karl Heinimann, Christa Fonatsch, Johannes Zschocke, Katharina Wimmer

Journal:

Year:

2010

Language:

english

File:

PDF, 304 KB

english, 2010

19

A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2

Kathrin Bengesser, David N. Cooper, Katharina Steinmann, Lan Kluwe, Nadia A. Chuzhanova, Katharina Wimmer, Marcos Tatagiba, Sigrid Tinschert, Victor-Felix Mautner, Hildegard Kehrer-Sawatzki

Journal:

Year:

2010

Language:

english

File:

PDF, 290 KB

english, 2010

20

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

David N. Cooper, Jian-Min Chen, Edward V. Ball, Katy Howells, Matthew Mort, Andrew D. Phillips, Nadia Chuzhanova, Michael Krawczak, Hildegard Kehrer-Sawatzki, Peter D. Stenson

Journal:

Year:

2010

Language:

english

File:

PDF, 420 KB

english, 2010

21

Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH

Carles Garcia-Linares, Juana Fernández-Rodríguez, Ernest Terribas, Jaume Mercadé, Eva Pros, Llúcia Benito, Yolanda Benavente, Gabriel Capellà, Anna Ravella, Ignacio Blanco, Hildegard Kehrer-Sawatzki,

Journal:

Year:

2011

Language:

english

File:

PDF, 742 KB

english, 2011

22

Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations

Guojie Zhang, Zhang Pei, Michael Krawczak, Edward V. Ball, Matthew Mort, Hildegard Kehrer-Sawatzki, David N. Cooper

Journal:

Year:

2010

Language:

english

File:

PDF, 231 KB

english, 2010

23

Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)

Ludwine Messiaen, Julia Vogt, Kathrin Bengesser, Chuanhua Fu, Fady Mikhail, Eduard Serra, Carles Garcia-Linares, David N. Cooper, Conxi Lazaro, Hildegard Kehrer-Sawatzki

Journal:

Year:

2011

Language:

english

File:

PDF, 203 KB

english, 2011

24

Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation

Julia Vogt, Jürgen Kohlhase, Susanne Morlot, Lan Kluwe, Victor-Felix Mautner, David N. Cooper, Hildegard Kehrer-Sawatzki

Journal:

Year:

2011

Language:

english

File:

PDF, 251 KB

english, 2011

25

Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genes

Dobril Ivanov, Stephen E. Hamby, Peter D. Stenson, Andrew D. Phillips, Hildegard Kehrer-Sawatzki, David N. Cooper, Nadia Chuzhanova

Journal:

Year:

2011

Language:

english

File:

PDF, 260 KB

english, 2011

26

On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease

David N. Cooper, Albino Bacolla, Claude Férec, Karen M. Vasquez, Hildegard Kehrer-Sawatzki, Jian-Min Chen

Journal:

Year:

2011

Language:

english

File:

PDF, 643 KB

english, 2011

27

Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/−) stem cells

Angelika C. Roehl, Tanja Mussotter, David N. Cooper, Lan Kluwe, Katharina Wimmer, Josef Högel, Marion Zetzmann, Julia Vogt, Victor-Felix Mautner, Hildegard Kehrer-Sawatzki

Journal:

Year:

2012

Language:

english

File:

PDF, 331 KB

english, 2012

28

Delineation of the clinical phenotype associated with non-mosaic type-2NF1deletions: two case reports

Julia Vogt, Rosa Nguyen, Lan Kluwe, Martin Schuhmann, Angelika C Roehl, Tanja Mußotter, David N Cooper, Victor-Felix Mautner, Hildegard Kehrer-Sawatzki

Journal:

Journal of Medical Case Reports

Year:

2011

Language:

english

File:

PDF, 970 KB

english, 2011

29

Interstitial deletion del(10)(q25.2q25.3 ∼ 26.11)—case report and review of the literature

Hildegard Kehrer-Sawatzki, Eva Daumiller, Jutta Müller-Navia, Heidemarie Kendziorra, Eva Rossier, Gabriele du Bois, Gotthold Barbi

Journal:

Prenatal Diagnosis

Year:

2005

Language:

english

File:

PDF, 133 KB

english, 2005

30

Mutation and expression analysis of theKRIT1gene associated with cerebral cavernous malformations (CCM1)

Hildegard Kehrer-Sawatzki, Monika Wilda, Veit M. Braun, Hans-Peter Richter, Horst Hameister

Journal:

Acta Neuropathologica

Year:

2002

Language:

english

File:

PDF, 294 KB

english, 2002

31

Interphase FISH, the structure of reciprocal translocation chromosomes and physical mapping studies rule out the duplication of theNF1gene at 17q11.2. A reply

Hildegard Kehrer-Sawatzki, Ludwine Messiaen

Journal:

Year:

2003

Language:

english

File:

PDF, 208 KB

english, 2003

32

Segmental duplication associated with the human-specific inversion of chromosome

Violaine Goidts, Justyna M. Szamalek, Horst Hameister, Hildegard Kehrer-Sawatzki

Journal:

Year:

2004

Language:

english

File:

PDF, 323 KB

english, 2004

33

Polymorphic micro-inversions contribute to the genomic variability of humans and chimpanzees

Justyna M. Szamalek, David N. Cooper, Werner Schempp, Peter Minich, Matthias Kohn, Josef Hoegel, Violaine Goidts, Horst Hameister, Hildegard Kehrer-Sawatzki

Journal:

Year:

2006

Language:

english

File:

PDF, 332 KB

english, 2006

34

Molecular characterisation of the pericentric inversion that distinguishes human chromosome 5 from the homologous chimpanzee chromosome

Justyna M. Szamalek, Violaine Goidts, Nadia Chuzhanova, Horst Hameister, David N. Cooper, Hildegard Kehrer-Sawatzki

Journal:

Year:

2005

Language:

english

File:

PDF, 552 KB

english, 2005

35

Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2

Hildegard Kehrer-Sawatzki, Lan Kluwe, Carsten Fünsterer, Victor-Felix Mautner

Journal:

Year:

2005

Language:

english

File:

PDF, 1.30 MB

english, 2005

36

Characterization of the human lineage-specific pericentric inversion that distinguishes human chromosome 1 from the homologous chromosomes of the great apes

Justyna M. Szamalek, Violaine Goidts, David N. Cooper, Horst Hameister, Hildegard Kehrer-Sawatzki

Journal:

Year:

2006

Language:

english

File:

PDF, 636 KB

english, 2006

37

Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome

Violaine Goidts, David N. Cooper, Lluis Armengol, Werner Schempp, Jeffrey Conroy, Xavier Estivill, Norma Nowak, Horst Hameister, Hildegard Kehrer-Sawatzki

Journal:

Year:

2006

Language:

english

File:

PDF, 605 KB

english, 2006

38

Structural divergence between the human and chimpanzee genomes

Hildegard Kehrer-Sawatzki, David N. Cooper

Journal:

Year:

2007

Language:

english

File:

PDF, 688 KB

english, 2007

39

Helen V. Firth and Jane A. Hurst, with advisory editor Judith G. Hall: Oxford Desk Reference: Clinical Genetics

Hildegard Kehrer-Sawatzki

Journal:

Year:

2008

Language:

english

File:

PDF, 105 KB

english, 2008

40

Delineating the Hemostaseome as an aid to individualize the analysis of the hereditary basis of thrombotic and bleeding disorders

Kim Fechtel, Marika L. Osterbur, Hildegard Kehrer-Sawatzki, Peter D. Stenson, David N. Cooper

Journal:

Year:

2011

Language:

english

File:

PDF, 802 KB

english, 2011

41

The second case of a t(17;22) in a family with neurofibromatosis type 1: sequence analysis of the breakpoint regions

H. Kehrer-Sawatzki, Jürgen Häussler, Winfrid Krone, Harald Bode, Dieter E. Jenne, Karl U. Mehnert, Ulrich Tümmers, Günter Assum

Journal:

Year:

1997

Language:

english

File:

PDF, 313 KB

english, 1997

42

Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2

H. Kehrer-Sawatzki, Martin Udart, Winfrid Krone, Reinhard Baden, Raimund Fahsold, Gilles Thomas, Beatrice Schmucker, Günter Assum

Journal:

Year:

1997

Language:

english

File:

PDF, 115 KB

english, 1997

43

A third neurofibromatosis type 1 (NF1) pseudogene at chromosome 15q11.2

H. Kehrer-Sawatzki, Thomas Schwickardt, Günter Assum, Mariano Rocchi, Winfrid Krone

Journal:

Year:

1997

Language:

english

File:

PDF, 202 KB

english, 1997

44

Reconstruction of the ancestral ferungulate karyotype by electronic chromosome painting (E-painting)

Claus Kemkemer, Matthias Kohn, Hildegard Kehrer-Sawatzki, Peter Minich, Josef Högel, Lutz Froenicke, Horst Hameister

Journal:

Chromosome Research

Year:

2006

Language:

english

File:

PDF, 478 KB

english, 2006

45

Molecular mechanisms of chromosomal rearrangement during primate evolution

Hildegard Kehrer-Sawatzki, David N. Cooper

Journal:

Chromosome Research

Year:

2008

Language:

english

File:

PDF, 303 KB

english, 2008

46

Cruciform-forming inverted repeats appear to have mediated many of the microinversions that distinguish the human and chimpanzee genomes

Jessica Kolb, Nadia A. Chuzhanova, Josef Högel, Karen M. Vasquez, David N. Cooper, Albino Bacolla, Hildegard Kehrer-Sawatzki

Journal:

Chromosome Research

Year:

2009

Language:

english

File:

PDF, 288 KB

english, 2009

47

Molecular cytogenetic characterization of two independent karyotypic anomalies in a patient with severe mental retardation and juvenile idiopathic arthritis

Sabine Leybrand, Eva Rossier, Gotthold Barbi, David N. Cooper, Hildegard Kehrer-Sawatzki

Journal:

The HUGO Journal

Year:

2007

Language:

english

File:

PDF, 232 KB

english, 2007

48

Klinik und Genetik der Neurofibromatose Typ 1

H. Kehrer-Sawatzki, V.-F. Mautner

Journal:

medizinische genetik

Year:

2009

Language:

german

File:

PDF, 826 KB

german, 2009

49

Research and applied medical genetics: filling the gap

Kehrer-Sawatzki, Hildegard

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 69 KB

english, 2010

50

Mechanisms of Loss of Heterozygosity in Neurofibromatosis Type 1-Associated Plexiform Neurofibromas

Steinmann, Katharina, Kluwe, Lan, Friedrich, Reinhard E, Mautner, Victor-Felix, Cooper, David N, Kehrer-Sawatzki, Hildegard

Journal:

The Journal of Investigative Dermatology

Year:

2008

Language:

english

File:

PDF, 437 KB

english, 2008