Kroisel, P.M.: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

1

Candidate region for Gilles de la Tourette syndrome at 7q31

Peter M. Kroisel, Erwin Petek, Werner Emberger, Christian Windpassinger, Wolfgang Wladika, Klaus Wagner

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 67 KB

english, 2001

2

De novo translocation t(5;18)(q33.1;q12.1) associated with autistic disorder

Peter M. Kroisel, Christian Windpassinger, Klaus Wagner, Erwin Petek, John B. Vincent, Stephen W. Scherer, Georg Spiel, Vida Artner, Erich Valtiner

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 104 KB

english, 2004

3

Complex chromosomal translocation in a patient with Kallmann syndrome

Kroisel, Peter M., Petek, Erwin, Wagner, Klaus, Kurnik, Peter

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 45 KB

english, 2000

4

Prenatal diagnosis of partial trisomy 4q26-qter and monosomy for the Wolf–Hirschhorn critical region in a fetus with split hand malformation

Erwin Petek, Klaus Wagner, Horst Steiner, Heinz Schaffer, Peter M. Kroisel

Journal:

Prenatal Diagnosis

Year:

2000

Language:

english

File:

PDF, 118 KB

english, 2000

5

Homozygosity for the W151X stop mutation in the Δ7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: Retrospective molecular diagnosis

Judith Löffler, Alexander Trojovsky, Bettina Casati, Peter M. Kroisel, Gerd Utermann

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 251 KB

english, 2000

6

Acute megakaryocytic leukemia in children clinical, immunologic, and cytogenetic findings in two patients

Irene Slavc, Christian Urban, Oskar A. Haas, Peter M. Kroisel, Ursula Köller

Journal:

Year:

1991

Language:

english

File:

PDF, 770 KB

english, 1991

7

Clinical and molecular cytogenetic characterization of two patients with partial trisomy 1q41-qter: Further delineation of partial trisomy 1q syndrome

Werner Emberger, E. Petek, P. M. Kroisel, H. Zierler, K. Wagner

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 470 KB

english, 2001

8

Phenotype of five patients with Greig syndrome and microdeletion of 7p13

Peter M. Kroisel, Erwin Petek, Klaus Wagner

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 278 KB

english, 2001

9

Molecular characterization of a 12q22-q24 deletion associated with congenital deafness: Confirmation and refinement of the DFNA25 locus

Erwin Petek, Christian Windpassinger, Monika Mach, Ludwig Rauter, Stephen W. Scherer, Klaus Wagner, Peter M. Kroisel

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 155 KB

english, 2003

10

Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8

Raymonda Varon, Annika Müer, Klaus Wagner, Hannelore Zierler, Sigrun Sodia, Ludwig Rauter, Erwin Petek, Holger Tönnies, Haidemarie Neitzel, Karl Sperling, Peter M. Kroisel

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 167 KB

english, 2007

11

A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes

Thomas Schwarzbraun, Lisa Ofner, Gabriele Gillessen-Kaesbach, Barbara Schaperdoth, Karl-Heinz Preisegger, Christian Windpassinger, Klaus Wagner, Erwin Petek, Peter M. Kroisel

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 224 KB

english, 2007

12

Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q

John B. Vincent, Abdul Noor, Christian Windpassinger, Peter J. Gianakopoulos, Thomas Schwarzbraun, Simon E. Alfred, Beata Stachowiak, Stephen W. Scherer, Wendy Roberts, Klaus Wagner, Peter M. Kroisel,

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2009

Language:

english

File:

PDF, 359 KB

english, 2009

13

Mutations in MECP2 exon 1 in classical rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2

Peter J. Gianakopoulos, Yuzhi Zhang, Nela Pencea, Marija Orlic-Milacic, Kirti Mittal, Christian Windpassinger, Sara-Jane White, Peter M. Kroisel, Eva W.C. Chow, Carol J. Saunders, Berge A. Minassian,

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2012

Language:

english

File:

PDF, 239 KB

english, 2012

14

Detection and relocation of cord blood nucleated red blood cells by laser scanning cytometry

Simone Hennerbichler, Rudolf Schmied, Erwin Petek, Peter M. Kroisel, Barbara Pertl, Beate Tiran, Gottfried Dohr, Reinhold Wintersteiger, Peter Sedlmayr

Journal:

Cytometry Part A

Year:

2002

Language:

english

File:

PDF, 226 KB

english, 2002

15

Simultaneous occurrence of retinoblastoma and neurofibromatosis I in a young child

M. Koestenberger, P.M. Kroisel, H. Lackner, Christian Urban

Journal:

Pediatric Blood & Cancer

Year:

2003

Language:

english

File:

PDF, 541 KB

english, 2003

16

Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counselling

K Buiting, C Färber, P Kroisel, K Wagner, L Brueton, ME Robertson, C Lich, B Horsthemke

Journal:

Clinical Genetics

Year:

2000

Language:

english

File:

PDF, 185 KB

english, 2000

17

Molecular characterization of a unique de novo 15q deletion associated with Prader–Willi syndrome and central visual impairment

C Windpassinger, E Petek, K Wagner, A Langmann, K Buiting, PM Kroisel

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 2.93 MB

english, 2003

18

Pitfalls in prenatal and postnatal detection of partial trisomy and tetrasomy 13 by rapid aneuploidy detection

Peter M. Kroisel, Klaus Wagner, Hannelore Zierler, Erwin Petek

Journal:

Prenatal Diagnosis

Year:

2002

Language:

english

File:

PDF, 88 KB

english, 2002

19

Fetal nucleated red blood cells in peripheral blood of pregnant women: detection and determination of location on a slide using laser-scanning cytometry

Simone Hennerbichler, Peter M Kroisel, Hannelore Zierler, Barbara Pertl, Reinhold Wintersteiger, Gottfried Dohr, Peter Sedlmayr

Journal:

Prenatal Diagnosis

Year:

2003

Language:

english

File:

PDF, 121 KB

english, 2003

20

Localization of genes and anonymous DNA probes on the short arm of Chromosome 7

Klaus Wagner, Peter M. Kroisel, Walter Rosenkranz

Journal:

Mammalian Genome

Year:

1992

Language:

english

File:

PDF, 318 KB

english, 1992

21

Simultaneous production of R-bands and either replication patterns or sister chromatid differentiation

P. M. Kroisel, W. Rosenkranz, D. Schweizer

Journal:

Year:

1985

Language:

english

File:

PDF, 2.10 MB

english, 1985

22

Psoriasis und Hypogonadismus bei chronischer Blepharokeratokonjunktivitis Ein Fallbericht

J. Horwath-Winter, I. Flögel, S. Ramschak-Schwarzer, A. Hofer, P. M. Kroisel

Journal:

Der Ophthalmologe

Year:

2002

Language:

german

File:

PDF, 171 KB

german, 2002

23

SNURF-SNRPNandUBE3Atranscript levels in patients with Angelman syndrome

Maren Runte, PeterM. Kroisel, Gabriele Gillessen-Kaesbach, Raymonda Varon, Denise Horn, MonikaY. Cohen, Joseph Wagstaff, Bernhard Horsthemke, Karin Buiting

Journal:

Year:

2004

Language:

english

File:

PDF, 431 KB

english, 2004

24

Rapid detection of trisomies 21 and 18 and sexing by quantitative fluorescent multiplex PCR

B. Pertl, U. Weitgasser, S. Kopp, P. M. Kroisel, J. Sherlock, M. Adinolfi

Journal:

Year:

1996

Language:

english

File:

PDF, 42 KB

english, 1996

25

Molecular characterisation of a 15

Erwin Petek, Christian Windpassinger, Burkhard Simma, Thomas Mueller, Klaus Wagner, Peter M. Kroisel

Journal:

Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 268 KB

english, 2003

26

Phenotypic and molecular characterisation of a de novo 5q deletion that includes theAPCgene

Lisa Ofner, Jochen Raedle, Christian Windpassinger, Thomas Schwarzbraun, Peter M. Kroisel, Klaus Wagner, Erwin Petek

Journal:

Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 306 KB

english, 2006

27

Isolation of a 370 kb YAC fragment spanning a translocation breakpoint at 3p14.1 associated with holoprosencephaly

Erwin Pete, Peter Michael Kroisel, Klaus Wagner

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 1.73 MB

english, 1998

28

Mental retardation in a girl with a subtelomeric deletion on chromosome 20q and complete deletion of the myelin transcription factor 1 gene (MYT1)

T Kroepfl, E Petek, T Schwarzbraun, PM Kroisel, B Plecko

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 146 KB

english, 2008

29

10.1038/85936

El-Maarri, Osman, Buiting, Karin, Peery, Edwin G., Kroisel, Peter M., Balaban, Basak, Wagner, Klaus, Urman, Bulent, Heyd, Julia, Lich, Christina, Brannan, Camilynn I., Walter, Jörn, Horsthemke, Bernha

Journal:

Nature Genetics

Year:

2001

File:

PDF, 22 KB

2001

30

10.1038/85933

El-Maarri, Osman, Buiting, Karin, Peery, Edwin G., Kroisel, Peter M., Balaban, Basak, Wagner, Klaus, Urman, Bulent, Heyd, Julia, Lich, Christina, Brannan, Camilynn I., Walter, Jörn, Horsthemke, Bernha

Journal:

Nature Genetics

Year:

2001

File:

PDF, 49 KB

2001

31

10.1038/85927

El-Maarri, Osman, Buiting, Karin, Peery, Edwin G., Kroisel, Peter M., Balaban, Basak, Wagner, Klaus, Urman, Bulent, Heyd, Julia, Lich, Christina, Brannan, Camilynn I., Walter, Jörn, Horsthemke, Bernha

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 936 KB

english, 2001

32

Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3

Hurst, Jane A, Jenkins, Dagan, Vasudevan, Pradeep C, Kirchhoff, Maria, Skovby, Flemming, Rieubland, Claudine, Gallati, Sabina, Rittinger, Olaf, Kroisel, Peter M, Johnson, David

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 380 KB

english, 2011

33

A new bacteriophage P1–derived vector for the propagation of large human DNA fragments

loannou, Panayiotis A., Amemiya, Chris T., Garnes, Jeffrey, Kroisel, Peter M., Shizuya, Hiroaki, Chen, Chira, Batzer, Mark A., de Jong, Pieter J.

Journal:

Nature Genetics

Year:

1994

File:

PDF, 884 KB

1994

34

Quantitative fluorescence polymerase chain reaction for the rapid prenatal detection of common aneuploidies and fetal sex

Barbara Pertl, Susanne Kopp a, Peter M. Kroisel, Martin Häusler, Jon Sherlock, Raimund Winter, Matteo Adinolfi

Journal:

American Journal of Obstetrics and Gynecology

Year:

1997

Language:

english

File:

PDF, 652 KB

english, 1997

35

Chronic myeloid leukemia with a rare variant Philadelphia translocation: t(9;10;22)(q34;q22;q11)

W Emberger, A Behmel, M Tschernigg, H.L Seewann, E Petek, P.M Kroisel, K Wagner

Journal:

Cancer Genetics and Cytogenetics

Year:

2001

Language:

english

File:

PDF, 110 KB

english, 2001

36

High resolution banding of an unusual reciprocal translocation in recurrent abortions

P. M. Kroisel, W. Rosenkranz

Journal:

Clinical Genetics

Year:

1990

Language:

english

File:

PDF, 281 KB

english, 1990

37

Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS)

Thomas Schwarzbraun, Christian Windpassinger, Lisa Ofner, John B. Vincent, Joseph Cheung, Stephen W. Scherer, Klaus Wagner, Peter M. Kroisel, Erwin Petek

Journal:

European Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 552 KB

english, 2006

38

Williams-Beuren syndrome associated with caudal regression syndrome and coagulopathy—a case report

Georg Singer, Johannes Schalamon, Herwig Ainoedhofer, Erwin Petek, Peter M. Kroisel, Michael E. Höllwarth

Journal:

Journal of Pediatric Surgery

Year:

2005

Language:

english

File:

PDF, 141 KB

english, 2005

39

Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue

Thomas Schwarzbraun, John B. Vincent, Axel Schumacher, Daniel H. Geschwind, Joao Oliveira, Christian Windpassinger, Lisa Ofner, Michael K. Ledinegg, Peter M. Kroisel, Klaus Wagner, Erwin Petek

Journal:

Year:

2004

Language:

english

File:

PDF, 905 KB

english, 2004

40

Unusual Aß amyloid deposition in Alzheimer's disease due to an APP T7141 mutation at the γ42-secretase site

Chris De Jonghe, Samir Kumar-Singh, Marc Cruts, Reinhold Kleinert, Hugo Vanderstichele, Eugeen J.M. Vanmechelen, Peter Kroisel, Christine Van Broeckhoven

Journal:

Neurobiology of Aging

Year:

2000

Language:

english

File:

PDF, 194 KB

english, 2000

41

The human γ-aminobutyric acid A receptor delta (GABRD) gene: molecular characterisation and tissue-specific expression

Christian Windpassinger, Peter M. Kroisel, Klaus Wagner, Erwin Petek

Journal:

Year:

2002

Language:

english

File:

PDF, 581 KB

english, 2002

42

Familial Mental Retardation Syndrome ATR-16 Due to an Inherited Cryptic Subtelomeric Translocation, t(3;16)(q29;p13.3)

Elke Holinski-Feder, Edwin Reyniers, Sabine Uhrig, Astrid Golla, Jan Wauters, Peter Kroisel, Paul Bossuyt, Imma Rost, Kerry Jedele, Hannelore Zierler, Sieglinde Schwab, Dieter Wildenauer, Michael R. S

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 352 KB

english, 2000

43

Disruption of a Novel Gene (IMMP2L) by a Breakpoint in 7q31 Associated with Tourette Syndrome

Erwin Petek, Christian Windpassinger, John B. Vincent, Joseph Cheung, Andrew P. Boright, Stephen W. Scherer, Peter M. Kroisel, Klaus Wagner

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 3.24 MB

english, 2001

44

Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease

Gerd Hörl, Peter M. Kroisel, Elke Wagner, Beate Tiran, Erwin Petek, Ernst Steyrer

Journal:

Atherosclerosis

Year:

2006

Language:

english

File:

PDF, 299 KB

english, 2006

45

Molecular Karyotyping as a Relevant Diagnostic Tool in Children with Growth Retardation with Silver-Russell Features

Sabrina Spengler, Matthias Begemann, Nadina Ortiz Brüchle, Michael Baudis, Bernd Denecke, Peter Michael Kroisel, Barbara Oehl-Jaschkowitz, Bernd Schulze, Gisela Raabe-Meyer, Christiane Spaich, Peter B

Journal:

The Journal of Pediatrics

Year:

2012

Language:

english

File:

PDF, 1.54 MB

english, 2012

46

Community acquired Staphylococcus aureus meningitis and cerebral abscesses in a patient with a Hyper-IgE and a Dubowitz-like syndrome

Markus Beitzke, Christian Enzinger, Christian Windpassinger, Dietmar Pfeifer, Franz Fazekas, Cristina Woellner, Bodo Grimbacher, Peter Michael Kroisel

Journal:

Journal of the Neurological Sciences

Year:

2011

Language:

english

File:

PDF, 450 KB

english, 2011

47

No evidence for mutagenic effects of ribavirin: report of two normal pregnancies

Karin Hegenbarth, Ute Maurer, Peter M Kroisel, Peter Fickert, Michael Trauner, Rudolf E Stauber

Journal:

American Journal of Gastroenterology

Year:

2001

Language:

english

File:

PDF, 101 KB

english, 2001

48

Identification of the Gene Underlying Congenital Short Bowel Syndrome, Pointing to Its Major Role in Intestinal Development

Christine S. van der Werf, Tara D. Wabbersen, Nai-Hua Hsiao, Joana Paredes, Heather C. Etchevers, Peter M. Kroisel, Dick Tibboel, Richard A. Schreiber, Edward J. Hoffenberg, Sirkka L. Zeder, Isabella

Journal:

Gastroenterology

Year:

2011

Language:

english

File:

PDF, 100 KB

english, 2011

49

CLMP Is Required for Intestinal Development, and Loss-of-Function Mutations Cause Congenital Short-Bowel Syndrome

Christine S. Van Der Werf, Tara D. Wabbersen, Nai–Hua Hsiao, Joana Paredes, Heather C. Etchevers, Peter M. Kroisel, Dick Tibboel, Candice Babarit, Richard A. Schreiber, Edward J. Hoffenberg, Michel Ve

Journal:

Gastroenterology

Year:

2012

Language:

english

File:

PDF, 3.30 MB

english, 2012

50

Mosaicism in a fragile X male including a de novo deletion in the FMR1 gene

Erwin Petek, Peter M. Kroisel, Margit Schuster, Hannelore Zierler, Klaus Wagner

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 134 KB

english, 1999