Gabriele Wieczorek: search on Z-Library

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1

Oculo-oto-facial dysplasia (OOFD) versus Burn–McKeown syndrome

Dagmar Wieczorek, Gabriele Gillessen-Kaesbach

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 62 KB

english, 2006

2

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Niihori, Tetsuya, Aoki, Yoko, Narumi, Yoko, Neri, Giovanni, Cavé, Hélène, Verloes, Alain, Okamoto, Nobuhiko, Hennekam, Raoul C M, Gillessen-Kaesbach, Gabriele, Wieczorek, Dagmar

Journal:

Nature Genetics

Year:

2006

Language:

english

File:

PDF, 219 KB

english, 2006

3

Two adults with Rubinstein–Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers

Dagmar Wieczorek, Oliver Bartsch, Stanislav Lechno, Jürgen Kohlhase, Dorien J.M. Peters, Hans Dauwerse, Gabriele Gillessen-Kaesbach, Raoul C.M. Hennekam, Eberhard Passarge

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 213 KB

english, 2009

4

Prenatally detected trisomy 4 and 6 mosaicism—cytogenetic results and clinical phenotype

Dagmar Wieczorek, Eva C. Prott, Wendy P. Robinson, Eberhard Passarge, Gabriele Gillessen-Kaesbach

Journal:

Prenatal Diagnosis

Year:

2003

Language:

english

File:

PDF, 133 KB

english, 2003

5

A female patient with partial duplication 22 (q13-qter)

Wieczorek, Dagmar, Holtvogt, Jurgen, Thonig, Sabine, Gillessen-Kaesbach, Gabriele

Journal:

Clinical Dysmorphology

Year:

1998

File:

PDF, 379 KB

1998

6

Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome

Ehmke, Nadja, Caliebe, Almuth, Koenig, Rainer, Kant, Sarina G., Stark, Zornitza, Cormier-Daire, Valérie, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Hoff, Kirstin, Kawalia, Amit, Thiele, Holger,

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1004 KB

english, 2014

7

Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation—New MCA/MR syndrome in two affected sibs and a mildly affected mother?

Dagmar Wieczorek, Charles Shaw-Smith, Jürgen Kohlhase, Wolfgang Schmitt, Karin Buiting, Alison Coffey, Eleanor Howard, Ute Hehr, Gabriele Gillessen-Kaesbach

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 319 KB

english, 2007

8

Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion

Wieczorek, Dagmar, Krause, Mario, Majewski, Frank, Albrecht, Beate, Horn, Denise, Riess, Olaf, Gillessen-Kaesbach, Gabriele

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 237 KB

english, 2000

9

Persistent abdominal pain related to portal vein thrombosis in young adult with sickle cell disease

Dal Zotto, Chiara, Wieczorek, Michele, Mariottini, Gabriele, Malagò, Roberto, Olivieri, Oliviero, De Franceschi, Lucia

Journal:

American Journal of Hematology

Year:

2018

Language:

english

File:

PDF, 1022 KB

english, 2018

10

Absence of thumbs, a/hypoplasia of radius, hypoplasia of ulnae, retarded bone age, short stature, microcephaly, hypoplastic genitalia, and mental retardation

Dagmar Wieczorek, Bernhard Köster, Gabriele Gillessen-Kaesbach

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 182 KB

english, 2002

11

Towards mapping phenotypical traits in 18p− syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation

Brenk, Christian H, Prott, Eva-Christina, Trost, Detlef, Hoischen, Alexander, Walldorf, Constanze, Radlwimmer, Bernhard, Wieczorek, Dagmar, Propping, Peter, Gillessen-Kaesbach, Gabriele, Weber, Ruthil

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 237 KB

english, 2006

12

A family with autosomal dominant oculo-auriculo-vertebral spectrum

Tasse, Christiane, Majewski, Frank, B??hringer, Stefan, Fischer, Sven, L??decke, Hermann-Josef, Gillessen-Kaesbach, Gabriele, Wieczorek, Dagmar

Journal:

Clinical Dysmorphology

Year:

2007

Language:

english

File:

PDF, 193 KB

english, 2007

13

Testing model assumptions in functional regression models

Axel Bücher, Holger Dette, Gabriele Wieczorek

Journal:

Journal of Multivariate Analysis

Year:

2011

Language:

english

File:

PDF, 307 KB

english, 2011

14

Early onset systemic lupus erythematosus: differential diagnoses, clinical presentation, and treatment options

Christian Michael Hedrich, Hildegard Zappel, Simon Straub, Martin W. Laass, Kathrin Wieczorek, Gabriele Hahn, Georg Heubner, Manfred Gahr

Journal:

Clinical Rheumatology

Year:

2011

Language:

english

File:

PDF, 451 KB

english, 2011

15

Two brothers with Burn???McKeown syndrome

Wieczorek, Dagmar, Teber, ??zge Altug, Lohmann, Dietmar, Gillessen-Kaesbach, Gabriele

Journal:

Clinical Dysmorphology

Year:

2003

Language:

english

File:

PDF, 196 KB

english, 2003

16

Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome

Dagmar Wieczorek, Michael Ludwig, Stefan Boehringer, Piet Hein Jongbloet, Gabriele Gillessen-Kaesbach, Bernhard Horsthemke

Journal:

Year:

2007

Language:

english

File:

PDF, 415 KB

english, 2007

17

Cardio-facio-cutaneous (CFC) syndrome — a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome

Dagmar Wieczorek, Frank Majewski, Gabriele Giliessen-Kaesbach

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 2.07 MB

english, 1997

18

Syndrome identification based on 2D analysis software

Boehringer, Stefan, Vollmar, Tobias, Tasse, Christiane, Wurtz, Rolf P, Gillessen-Kaesbach, Gabriele, Horsthemke, Bernhard, Wieczorek, Dagmar

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 269 KB

english, 2006

19

Impact of geometry and viewing angle on classification accuracy of 2D based analysis of dysmorphic faces

Tobias Vollmar, Baerbel Maus, Rolf P. Wurtz, Gabriele Gillessen-Kaesbach, Bernhard Horsthemke, Dagmar Wieczorek, Stefan Boehringer

Journal:

European Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 469 KB

english, 2008

20

A patient with interstitial deletion of the short arm of chromosome 3 (pter→p21.2::p12→qter) and a CHARGE-like phenotype

Wieczorek, Dagmar, Bolt, Jan, Schwechheimer, Karl, Gillessen-Kaesbach, Gabriele

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 317 KB

english, 1997

21

Meeting Report: GBIF hackathon-workshop on Darwin Core and sample data (22–24 May 2013)

Wieczorek, John, Bánki, Olaf, Blum, Stan, Deck, John, Döring, Markus, Dröge, Gabriele, Endresen, Dag, Goldstein, Philip, Leary, Patrick, Krishtalka, Leonard, Tuama, Éamonn Ó, Robbins, Robert J., Rober

Journal:

Standards in Genomic Sciences

Year:

2014

Language:

english

File:

PDF, 340 KB

english, 2014

22

Testing for a Constant Coefficient of Variation in Nonparametric Regression

Dette, Holger, Wieczorek, Gabriele

Journal:

Journal of Statistical Theory and Practice

Year:

2009

Language:

english

File:

PDF, 423 KB

english, 2009

23

Two brothers with Burn-McKeown syndrome

Wieczorek, Dagmar, Teber, Özge Altug, Lohmann, Dietmar, Gillessen-Kaesbach, Gabriele

Journal:

Clinical Dysmorphology

Year:

2003

Language:

english

File:

PDF, 196 KB

english, 2003

24

Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

Musante, Luciana, Kehl, Hans G, Majewski, Frank, Meinecke, Peter, Schweiger, Susann, Gillessen-Kaesbach, Gabriele, Wieczorek, Dagmar, Hinkel, Georg K, Tinschert, Sigrid, Hoeltzenbein, Maria

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 120 KB

english, 2003

25

Microcephaly, seizures, genital hypoplasia, and abnormalities of the hands and feet in a 4-year-old boy with possible Wiedemann syndrome

Dagmar Wieczorek, Gabriele Gillessen-Kaesbach, Sven Plewa, Eberhard Passarge

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 1.21 MB

english, 1996

26

Electrophoresis of DNA in human genetic diagnostics – state-of-the-art, alternatives and future prospects

René Gödde, Denis-Amer Akkad, Larissa Arning, Gabriele Dekomien, Julia Herchenbach, Erdmute Kunstmann, Moritz Meins, Stefan Wieczorek, Jörg T. Epplen, Sabine Hoffjan

Journal:

ELECTROPHORESIS

Year:

2006

Language:

english

File:

PDF, 92 KB

english, 2006

27

Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

Musante, Luciana, Kehl, Hans G, Majewski, Frank, Meinecke, Peter, Schweiger, Susann, Gillessen-Kaesbach, Gabriele, Wieczorek, Dagmar, Hinkel, Georg K, Tinschert, Sigrid, Hoeltzenbein, Maria

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 32 KB

english, 2003

28

Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR

Diana Mitter, Karin Buiting, Ferdinand von Eggeling, Alma Kuechler, Thomas Liehr, Ulrike Angelika Mau-Holzmann, Eva-Christina Prott, Dagmar Wieczorek, Gabriele Gillessen-Kaesbach

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 275 KB

english, 2006

29

Meeting Report: Hackathon-Workshop on Darwin Core and MIxS Standards Alignment (February 2012)

Tuama, Éamonn Ó, Deck, John, Dröge, Gabriel, Döring, Markus, Field, Dawn, Kottmann, Renzo, Ma, Juncai, Mori, Hiroshi, Morrison, Norman, Sterk, Peter, Sugawara, Hideaki, Wieczorek, John, Wu, Linhuan, Y

Journal:

Standards in Genomic Sciences

Year:

2012

Language:

english

File:

PDF, 164 KB

english, 2012

30

Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: A mandibulofacial dysostosis distinct from Treacher Collins syndrome

Dagmar Wieczorek, Blanca Gener, Ma Jesús Martínez González, Saskia Seland, Sven Fischer, Ute Hehr, Alma Kuechler, Lies H. Hoefsloot, Nicole de Leeuw, Gabriele Gillessen-Kaesbach, Dietmar R. Lohmann

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 237 KB

english, 2009

31

Anti–LFA-1 Monotherapy Prevents Neointimal Formation in a Murine Model of Transplant Intimal Hyperplasia

Behzad Soleimani, Grazyna Wieczorek, Andreas Katopodis, Gerhard Zenke, Andrew J.T. George, Philip I. Hornick, Gabriele Weitz-Schmidt

Journal:

The Journal of Heart and Lung Transplantation

Year:

2007

Language:

english

File:

PDF, 608 KB

english, 2007

32

Synthesis, Characterization, and Solubility in Supercritical Carbon Dioxide of Hyperbranched Copolyesters

Gregorowicz, Jacek, Wawrzyńska, Edyta P., Parzuchowski, Paweł G., Fraś, Zbigniew, Rokicki, Gabriel, Wojciechowski, Kamil, Wieczorek, Stefan A., Wiśniewska, Agnieszka, Plichta, Andrzej, Dąbrowski, Kazi

Journal:

Year:

2013

Language:

english

File:

PDF, 2.35 MB

english, 2013

33

Three brothers with mental and physical retardation, hydrocephalus, microcephaly, internal malformations, speech disorder, and facial anomalies: Mutchinick syndrome

Doerfler, Walter, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Albrecht, Beate, Passarge, Eberhard

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 571 KB

english, 1997

34

Chronic Granulomatous Disease (CGD) Mimicking Neoplasms: A Suspected Mediastinal Teratoma Unmasking as Thymic Granulomas Due to X-linked CGD, and 2 Related Cases

Hauck, Fabian, Heine, Sabine, Beier, Rita, Wieczorek, Kathrin, Müller, Diane, Hahn, Gabriele, Gahr, Manfred, Rösen-Wolff, Angela, Roesler, Joachim

Journal:

Journal of Pediatric Hematology/Oncology

Year:

2008

Language:

english

File:

PDF, 303 KB

english, 2008

35

Distal monosomy 18p/distal trisomy 20p—A recognizable facial phenotype?

Dagmar Wieczorek, Oliver Bartsch, Gabriele Gillessen-Kaesbach

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 129 KB

english, 2003

36

Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing

Zühlke, Christine, Mikat, Barbara, Timmann, Dagmar, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Bürk, Katrin

Journal:

Cerebellum & Ataxias

Year:

2015

Language:

english

File:

PDF, 412 KB

english, 2015

37

Homozygous myotonic dystrophy: Clinical findings in two patients and review of the literature

Christine Zühlke, Elizabeth Roeder, Sabine Purmann, Dagmar Wieczorek, Cynthia Curry, Cheri Loustalet, Yorck Hellenbroich, Hans Helmut Richardt, Gabriele Gillessen-Kaesbach

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 161 KB

english, 2007

38

A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb

Dagmar Wieczorek, Barbara Pawlik, Yun Li, Nurten A. Akarsu, Almuth Caliebe, Klaus J.W. May, Bernd Schweiger, Fernando R. Vargas, Sevim Balci, Gabriele Gillessen-Kaesbach, Bernd Wollnik

Journal:

Year:

2010

Language:

english

File:

PDF, 392 KB

english, 2010

39

SPIE Proceedings [SPIE SPIE NanoScience + Engineering - San Diego, California, United States (Sunday 25 August 2013)] Optical Trapping and Optical Micromanipulation X - Probing multiscale mechanics of collagen with optical tweezers

Dholakia, Kishan, Spalding, Gabriel C., Shayegan, Marjan, Rezaei, Naghmeh, Lam, Norman H., Altindal, Tuba, Wieczorek, Andrew, Forde, Nancy R.

Year:

2013

Language:

english

File:

PDF, 1.01 MB

english, 2013

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