Dufke, Andreas : rechercher sur Z-Library

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1

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Anita Rauch, Dagmar Wieczorek, Elisabeth Graf, Thomas Wieland, Sabine Endele, Thomas Schwarzmayr, Beate Albrecht, Deborah Bartholdi, Jasmin Beygo, Nataliya Di Donato, Andreas Dufke, Kirsten Cremer, Ma

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 249 KB

english, 2012

2

Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: A multicenter study

Dominic J. McMullan, Michael Bonin, Jayne Y. Hehir-Kwa, Bert B.A. de Vries, Andreas Dufke, Eleanor Rattenberry, Marloes Steehouwer, Luminita Moruz, Rolph Pfundt, Nicole de Leeuw, Angelika Riess, Özge

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 227 KB

english, 2009

3

Renal cystic disease and associated ciliopathies

Kagan, Karl O., Dufke, Andreas, Gembruch, Ulrich

Journal:

Current Opinion in Obstetrics & Gynecology

Année:

2017

Langue:

english

Fichier:

PDF, 1.24 MB

english, 2017

4

A rapid microarray based whole genome analysis for detection of uniparental disomy

Özge Altug-Teber, Andreas Dufke, Sven Poths, Ulrike Angelika Mau-Holzmann, Murat Bastepe, Laurence Colleaux, Valérie Cormier-Daire, Thomas Eggermann, Gabriele Gillessen-Kaesbach, Michael Bonin, Olaf R

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 282 KB

english, 2005

5

Parental origin of deletions and duplications – about the necessity to check for cryptic inversions

Liehr, Thomas, Schreyer, Isolde, Kuechler, Alma, Manolakos, Emmanouil, Singer, Sylke, Dufke, Andreas, Wilhelm, Kathleen, Jančušková, Tereza, Čmejla, Radek, Othman, Moneeb A. K., Al-Rikabi, Ahmed H., M

Journal:

Molecular Cytogenetics

Année:

2018

Langue:

english

Fichier:

PDF, 1.16 MB

english, 2018

6

The power of the Mediator complex - expanding the genetic architecture and phenotypic spectrum of MED12 -related disorders

Charzewska, Agnieszka, Maiwald, Robert, Kahrizi, Kimia, Oehl-Jaschkowitz, Barbara, Dufke, Andreas, Lemke, Johannes R., Enders, Herbert, Najmabadi, Hossein, Tzschach, Andreas, Hachmann, Wiebke, Menzel,

Journal:

Clinical Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 1.41 MB

english, 2018

7

Rare case of de novo interstitial deletion 2q13q21: Clinical, cytogenetic, and molecular studies

Eggermann, Katja, Dufke, Andreas, Enders, Herbert, Kaiser, Peter, St�tter, Mechthild, Eggerman, Thomas

Journal:

American Journal of Medical Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 49 KB

english, 2000

8

Retrospective diagnosis of trisomy 15 in formalin-fixed, paraffin-embedded placental tissue in a newborn girl with Prader–Willi syndrome

Claudia Walczak, Herbert Enders, Klaus Grissinger, Andreas Dufke

Journal:

Prenatal Diagnosis

Année:

2000

Langue:

english

Fichier:

PDF, 48 KB

english, 2000

9

Molecular breakpoint analysis and relevance of variable mosaicism in a woman with short stature, primary amenorrhea, unilateral gonadoblastoma, and a 46,X,del(Y)(q11)/45,X karyotype

Dieter Kotzot, Andreas Dufke, Andreas Tzschach, Iris-Tatjana Baeckert-Sifeddine, Martin. Geppert, Heidrun Holland, Jobst M. Florus, Ursula G. Froster

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 152 KB

english, 2002

10

Chromosomal mosaicism in familial reciprocal translocation carriers: Necessity of karyotyping different tissues

Andreas Dufke, Michael Leipoldt, Herbert Enders

Journal:

American Journal of Medical Genetics Part A

Année:

2003

Langue:

english

Fichier:

PDF, 26 KB

english, 2003

11

Severe congenital myopathy with Möbius, Robin, and Poland sequences: New aspects of the Carey–Fineman–Ziter syndrome

Andreas Dufke, Joachim Riethmüller, Herbert Enders

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 98 KB

english, 2004

12

The face of Noonan syndrome: Does phenotype predict genotype

Judith E. Allanson, Axel Bohring, Helmuth-Guenther Dörr, Andreas Dufke, Gabrielle Gillessen-Kaesbach, Denise Horn, Rainer König, Christian P. Kratz, Kerstin Kutsche, Silke Pauli, Salmo Raskin, Anita R

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 577 KB

english, 2010

13

Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature

Anne Behnecke, Katrin Hinderhofer, Oliver Bartsch, Astrid Nümann, Marie-Luise Ipach, Natalja Damatova, Thomas Haaf, Andreas Dufke, Olaf Riess, Ute Moog

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 437 KB

english, 2011

14

Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy

Susanna Ranta, Meral Topcu, Saara Tegelberg, Hüseyin Tan, Alp Üstübütün, Isil Saatci, Andreas Dufke, Herbert Enders, Keith Pohl, Yves Alembik, Wayne A. Mitchell, Sara E. Mole, Anna-Elina Lehesjoki

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 242 KB

english, 2004

15

Hydrops fetalis in three male fetuses of a female with incontinentia pigmenti

Andreas Dufke, Brigitte Vollmer, Heidemarie Kendziorra, Susanne Mackensen-Haen, Ulrike Orth, Thorsten Orlikowsky, Andreas Gal

Journal:

Prenatal Diagnosis

Année:

2001

Langue:

english

Fichier:

PDF, 64 KB

english, 2001

16

Extradural ependymal tumor with myxopapillary and ependymoblastic differentiation in a case of Schinzel–Giedion syndrome

Rudi Beschorner, Manfred Wehrmann, Ulrike Ernemann, Michael Bonin, Veronka Horber, Barbara Oehl-Jaschkowitz, Richard Meyermann, Andreas Dufke

Journal:

Acta Neuropathologica

Année:

2007

Langue:

english

Fichier:

PDF, 625 KB

english, 2007

17

Letter to the Editor

Dr Eleni Papageorgiou, Dr Annette Wacker, Prof Dr Thomas Nägele, Dr Michael Bonin, Dr Andreas Dufke

Journal:

Journal of Paediatrics and Child Health

Année:

2010

Langue:

english

Fichier:

PDF, 315 KB

english, 2010

18

De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation

Grasshoff, Ute, Bonin, Michael, Goehring, Ina, Ekici, Arif, Dufke, Andreas, Cremer, Kirsten, Wagner, Nicholas, Rossier, Eva, Jauch, Anna, Walter, Michael

Journal:

European Journal of Human Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 666 KB

english, 2011

19

Partial tetrasomy 12pter-12p12.3 in a girl with Pallister-Killian syndrome: extraordinary finding of an analphoid, inverted duplicated marker

Dufke, Andreas, Walczak, Claudia, Liehr, Thomas, Starke, Heike, Trifonov, Vladimir, Rubtsov, Nikolai, Schöning, Martin, Enders, Herbert, Eggermann, Thomas

Journal:

European Journal of Human Genetics

Année:

2001

Langue:

english

Fichier:

PDF, 289 KB

english, 2001

20

Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level

Barber, John C K, Maloney, Viv, Hollox, Edward J, Stuke-Sontheimer, Annegret, du Bois, Gabi, Daumiller, Eva, Klein-Vogler, Ute, Dufke, Andreas, Armour, John A L, Liehr, Thomas

Journal:

European Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 202 KB

english, 2005

21

Interstitial 9q34.11–q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate

Andreas Tzschach, Ute Grasshoff, Karin Schäferhoff, Michael Bonin, Andreas Dufke, Markus Wolff, Karin Haas-Lude, Andrea Bevot, Olaf Riess

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 191 KB

english, 2012

22

Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

Juliane Hoyer, Arif B. Ekici, Sabine Endele, Bernt Popp, Christiane Zweier, Antje Wiesener, Eva Wohlleber, Andreas Dufke, Eva Rossier, Corinna Petsch, Markus Zweier, Ina Göhring, Alexander M. Zink, Gu

Journal:

The American Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 704 KB

english, 2012

23

Cervical origin of the subclavian artery as a specific marker for monosomy 22q11

Ralf Rauch, Anita Rauch, Andreas Koch, Matthias Kumpf, Andreas Dufke, Helmut Singer, Michael Hofbeck

Journal:

The American Journal of Cardiology

Année:

2002

Langue:

english

Fichier:

PDF, 111 KB

english, 2002

24

Clinical and Mutational Spectrum of Mowat–Wilson Syndrome

Christiane Zweier, Christian T Thiel, Andreas Dufke, Yanick J Crow, Peter Meinecke, Mohnish Suri, Sirpa Ala-Mello, Frits Beemer, Sergio Bernasconi, Paolo Bianchi, Andrea Bier, Koen Devriendt, Boyan Di

Journal:

European Journal of Medical Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 437 KB

english, 2005

25

De novo exceptional complex chromosomal rearrangement in a healthy fertile male: case report and review of the literature

Chantal Farra, Sylke Singer, Andreas Dufke, Hanine Ashkar, Carla Monsef, Johnny Awwad

Journal:

Fertility and Sterility

Année:

2011

Langue:

english

Fichier:

PDF, 272 KB

english, 2011

26

Tall stature, gonadal dysgenesis, and stigmata of Turner’s syndrome caused by a structurally altered X chromosome

Gerhard Binder, Thomas Eggermann, Herbert Enders, Michael B. Ranke, Andreas Dufke

Journal:

The Journal of Pediatrics

Année:

2001

Langue:

english

Fichier:

PDF, 129 KB

english, 2001

27

Genome-wide UPD screening in patients with intellectual disability

Schroeder, Christopher, Ekici, Arif Bülent, Moog, Ute, Grasshoff, Ute, Mau-Holzmann, Ulrike, Sturm, Marc, Vosseler, Vanessa, Poths, Sven, Rappold, Gudrun, Riess, Angelika, Riess, Olaf, Dufke, Andreas,

Journal:

European Journal of Human Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 978 KB

english, 2014

28

Position of the conus medullaris in fetuses with skeletal dysplasia

Hoopmann, Markus, Sonek, Jiri, Schramm, Thomas, Zubke, Wolfgang, Dufke, Andreas, Kagan, Karl Oliver

Journal:

Prenatal Diagnosis

Année:

2012

Langue:

english

Fichier:

PDF, 155 KB

english, 2012

29

Novel fetal and maternal sonographic findings in confirmed cases of Beckwith-Wiedemann syndrome

Kagan, Karl Oliver, Berg, Christoph, Dufke, Andreas, Geipel, Annegret, Hoopmann, Markus, Abele, Harald

Journal:

Prenatal Diagnosis

Année:

2015

Langue:

english

Fichier:

PDF, 437 KB

english, 2015

30

Next-generation sequencing in X-linked intellectual disability

Tzschach, Andreas, Grasshoff, Ute, Beck-Woedl, Stefanie, Dufke, Claudia, Bauer, Claudia, Kehrer, Martin, Evers, Christina, Moog, Ute, Oehl-Jaschkowitz, Barbara, Di Donato, Nataliya, Maiwald, Robert, J

Journal:

European Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 271 KB

english, 2015

31

Präkonzeptionelle und vorgeburtliche klinische Genomsequenzierung

Dufke, Andreas, Riess, Olaf

Journal:

medizinische genetik

Année:

2014

Langue:

german

Fichier:

PDF, 525 KB

german, 2014

32

Discordance between ultrasound and cell free DNA screening for monosomy X

Kagan, Karl Oliver, Hoopmann, Markus, Singer, Sylke, Schaeferhoff, Karin, Dufke, Andreas, Mau-Holzmann, Ulrike A.

Journal:

Archives of Gynecology and Obstetrics

Année:

2016

Langue:

english

Fichier:

PDF, 647 KB

english, 2016

33

Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome

Telegrafi, Aida, Webb, Bryn D., Robbins, Sarah M., Speck-Martins, Carlos E., FitzPatrick, David, Fleming, Leah, Redett, Richard, Dufke, Andreas, Houge, Gunnar, van Harssel, Jeske J. T., Verloes, Alain

Journal:

American Journal of Medical Genetics Part A

Année:

2017

Langue:

english

Fichier:

PDF, 4.79 MB

english, 2017

34

Novel HIVEP2 Variants in Patients with Intellectual Disability

Park, Joohyun, Colombo, Roberto, Schäferhoff, Karin, Janiri, Luigi, Grimmel, Mona, Sturm, Marc, Grasshoff, Ute, Dufke, Andreas, Haack, Tobias B., Kehrer, Martin

Journal:

Molecular Syndromology

Année:

2019

Langue:

english

Fichier:

PDF, 1.18 MB

english, 2019

35

First Trimester Screening for Common Trisomies and Microdeletion 22q11.2 Syndrome Using Cell-Free DNA: A Prospective Clinical Study

Kagan, Karl Oliver, Hoopmann, Markus, Pfaff, Theresa, Prodan, Natalia, Wagner, Philipp, Schmid, Maximilian, Dufke, Andreas, Mau-Holzmann, Ulrike, Brucker, Sara, Marcato, Livia, Malvestiti, Barbara, Gr

Journal:

Fetal Diagnosis and Therapy

Année:

2020

Fichier:

PDF, 351 KB

2020

36

Preâ and postnatal findings in a patient with a recombinant chromosome rec(8)(qterâq21.11::p23.3âqter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature

Habhab, Wisam, MauâHolzmann, Ulrike, Singer, Sylke, RieÃ, Angelika, Kagan, KarlâOliver, Gerbig, Ines, SchÃ¤ferhoff, Karin, Dufke, Andreas, Kehrer, Martin

Journal:

American Journal of Medical Genetics Part A

Année:

2020

Fichier:

PDF, 1.83 MB

2020