Gotthold Barbi: search on Z-Library

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1

Rat Embryonic Fibroblasts Improve Reprogramming of Human Keratinocytes into Induced Pluripotent Stem Cells

Linta, Leonhard, Stockmann, Marianne, Kleinhans, Karin N., Böckers, Anja, Storch, Alexander, Zaehres, Holm, Lin, Qiong, Barbi, Gotthold, Böckers, Tobias M., Kleger, Alexander, Liebau, Stefan

Journal:

Stem Cells and Development

Year:

2012

Language:

english

File:

PDF, 1.31 MB

english, 2012

2

Uniparental Disomy in Somatic Mosaicism 45,X/46,XY/46,XX Associated with Ambiguous Genitalia

Serra, Alexandre, Denzer, Friederike, Hiort, Olaf, Barth, Thomas F., Henne-Bruns, Doris, Barbi, Gotthold, Rettenberger, G�nther, Wabitsch, Martin, Just, Walter, Leriche, Clothilde

Journal:

Sexual Development

Year:

2015

Language:

english

File:

PDF, 326 KB

english, 2015

3

Detailed marker chromosome analysis in cell line U-BLC1, established from transitional-cell carcinoma of the bladder

Jochen Bruch, Gudrun Wöhr, Silke Brüderlein, Gotthold Barbi, Hubertus Wolter, Christa Dixkens, Torsten Mattfeldt, Peter Möller, Thomas Paiss, Richard Hautmann, Walther Vogel, Horst Hameister

Journal:

International Journal of Cancer

Year:

1999

Language:

english

File:

PDF, 301 KB

english, 1999

4

False-negative findings in chorionic villus sampling. An experimental approach and review of the literature

Ingo Kennerknecht, Gotthold Barbi, Mahmoud Djalali, Karl Mehnert, Michael Schneider, Rainer Terinde, Walther Vogel

Journal:

Prenatal Diagnosis

Year:

1998

Language:

english

File:

PDF, 152 KB

english, 1998

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

Reciprocal translocation t(1;15)(p36.2;p11.2): Confirmation of a suggestive cytogenetic diagnosis by in situ hybridization and clinical case report on resulting monosomy (1p)

Gotthold Barbi, Ingo Kennerknecht, Christine Klett

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 411 KB

english, 1992

7

Dup(lq)(q42→qter) syndrome: Case report and review of literature

PD Dr. Ingo Kennerknecht, Gotthold Barbi, Klaus Rodens

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 347 KB

english, 1993

8

How can the frequency of false-negative findings in prenatal diagnoses of fra(X) be reduced: Experience with first trimester chorionic Villi sampling

Dr. Ingo Kennerknecht, Gotthold Barbi, Niklas Dahl, Peter Steinbach

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 566 KB

english, 1991

9

Cytogenetic diagnoses after chorionic villus sampling are less reliable in very-high- or very-low-risk pregnancies

PD Dr Ingo Kennerknecht, Gotthold Barbi, Michael Wolf, Mahmoud Djalali, Dieter Grab, Rainer Terinde, Walther Vogel

Journal:

Prenatal Diagnosis

Year:

1993

Language:

english

File:

PDF, 972 KB

english, 1993

10

FUS Mislocalization and Vulnerability to DNA Damage in ALS Patients Derived hiPSCs and Aging Motoneurons

Higelin, Julia, Demestre, Maria, Putz, Stefan, Delling, Jan P., Jacob, Christian, Lutz, Anne-Kathrin, Bausinger, Julia, Huber, Anne-Kathrin, Klingenstein, Moritz, Barbi, Gotthold, Speit, Günter, Huebe

Journal:

Frontiers in Cellular Neuroscience

Year:

2016

Language:

english

File:

PDF, 4.47 MB

english, 2016

11

Mapping Immunoglobulin Gene-Related DNA Probes to the Central Region of Normal and Pericentrically Inverted Human Chromosome 2

Andrea Lautner-Rieske, Horst Hameister, Gotthold Barbi, Hans G. Zachau

Journal:

Year:

1993

File:

PDF, 412 KB

1993

12

Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH

Andreas Tzschach, Corinna Menzel, Fikret Erdogan, Marei Schubert, Maria Hoeltzenbein, Gotthold Barbi, Christine Petzenhauser, Hans-Hilger Ropers, Reinhard Ullmann, Vera Kalscheuer

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 149 KB

english, 2007

13

Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement

Spielmann, Malte, Marx, Sylvie, Barbi, Gotthold, Flöttmann, Ricarda, Kehrer-Sawatzki, Hildegard, König, Rainer, Horn, Denise, Mundlos, Stefan, Nader, Sean, Borck, Guntram

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 768 KB

english, 2016

14

Agonadism in two sisters with XY gonosomal constitution, mental retardation, short stature, severely retarded bone age, and multiple extragenital malformations: A new autosomal recessive syndrome

Dr. Ingo Kennerknecht, Petra von Saurma, Rolf Brenner, Walter Just, Gotthold Barbi, Wolfgang Sorgo, Eberhard Heinze, Alfred S. Wolf, Volker Schneider, Klaus-Peter Günther, Walter M. Teller, Walther Vo

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 782 KB

english, 1995

15

Maternal transmission of ring chromosome 21

Ingo Kennerknecht, Gotthold Barbi, Walther Vogel

Journal:

Year:

1990

Language:

english

File:

PDF, 527 KB

english, 1990

16

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

17

X/autosome translocation in three generations ascertained through an infant with trisomy 16p due to failure of spreading of X-inactivation

Preis, Wolfgang, Barbi, Gotthold, Liptay, Susanne, Kennerknecht, Ingo, Schwemmle, Sabine, Pohlandt, Frank

Journal:

American Journal of Medical Genetics

Year:

1996

File:

PDF, 558 KB

1996

18

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

19

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

20

Disruptions of the novelKIAA1202gene are associated with X-linked mental retardation

Olivier Hagens, Aline Dubos, Fatima Abidi, Gotthold Barbi, Laura Van Zutven, Maria Hoeltzenbein, Niels Tommerup, Claude Moraine, Jean-Pierre Fryns, Jamel Chelly, Hans van Bokhoven, Jozef Gécz, Hélène

Journal:

Year:

2006

Language:

english

File:

PDF, 591 KB

english, 2006

21

STILmutation causes autosomal recessive microcephalic lobar holoprosencephaly

Kakar, Naseebullah, Ahmad, Jamil, Morris-Rosendahl, Deborah J., Altmüller, Janine, Friedrich, Katrin, Barbi, Gotthold, Nürnberg, Peter, Kubisch, Christian, Dobyns, William B., Borck, Guntram

Journal:

Year:

2015

Language:

english

File:

PDF, 2.32 MB

english, 2015

22

Retinoic acid worsens ATG10-dependent autophagy impairment in TBK1-mutant hiPSC-derived motoneurons through SQSTM1/p62 accumulation

Catanese, Alberto, Olde Heuvel, Florian, Mulaw, Medhanie, Demestre, Maria, Higelin, Julia, Barbi, Gotthold, Freischmidt, Axel, Weishaupt, Jochen H., Ludolph, Albert C., Roselli, Francesco, Boeckers, T

Journal:

Year:

2019

Language:

english

File:

PDF, 4.25 MB

english, 2019

23

Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development

Zhang, Litu, Tümer, Zeynep, Møllgård, Kjeld, Barbi, Gotthold, Rossier, Eva, Bendsen, Eske, Møller, Rikke Steensbjerre, Ullmann, Reinhard, He, Jian, Papadopoulos, Nickolas

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 525 KB

english, 2009

24

Xp-duplications with and without sex reversal

Baumstark, Annette, Barbi, Gotthold, Djalali, Mahmoud, Geerkens, Claudia, Mitulla, Beate, Mattfeldt, Torsten, Almeida, Jos�CarlosCabral, Vargas, FernandoRegla, Llerena, JuanClinton, Vogel, Walther, Ju

Journal:

Year:

1996

Language:

english

File:

PDF, 1.04 MB

english, 1996

25

NEK1 loss-of-function mutation induces DNA damage accumulation in ALS patient-derived motoneurons

Higelin, Julia, Catanese, Alberto, Semelink-Sedlacek, Lena Luisa, Oeztuerk, Sertap, Lutz, Anne-Kathrin, Bausinger, Julia, Barbi, Gotthold, Speit, Günter, Andersen, Peter M., Ludolph, Albert C., Demest

Journal:

Stem Cell Research

Year:

2018

Language:

english

File:

PDF, 4.56 MB

english, 2018

26

Retinoic acid worsens ATG10-dependent autophagy impairment in TBK1-mutant hiPSC-derived motoneurons through SQSTM1/p62 accumulation

Catanese, Alberto, Olde Heuvel, Florian, Mulaw, Medhanie, Demestre, Maria, Higelin, Julia, Barbi, Gotthold, Freischmidt, Axel, Weishaupt, Jochen H., Ludolph, Albert C., Roselli, Francesco, Boeckers, T

Journal:

Year:

2019

File:

PDF, 4.25 MB

2019

27

XX-agonadism in a fetus with multiple dysraphic lesions: A new syndrome

Kennerknecht, Ingo, Mattfeldt, Torsten, Paulus, Wolfgang, Nitsch, Christian, Negri, Giovanni, Barbi, Gotthold, Just, Walter, Schwemmle, Sabine, Vogel, Walther

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 135 KB

english, 1997

28

Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challenge

Bens, Susanne, Luedeke, Manuel, Richter, Tanja, Graf, Melanie, Kolarova, Julia, Barbi, Gotthold, Lato, Krisztian, Barth, Thomas F., Siebert, Reiner

Journal:

Clinical Epigenetics

Year:

2017

Language:

english

File:

PDF, 2.66 MB

english, 2017

29

Chromosome instability and X-ray hypersensitivity in a microcephalic and growth-retarded child

Gotthold Barbi, Jacques M. J. C. Scheres, Detlev Schindler, Rob D. F. M. Taalman, Klaus Rodens, Karl Mehnert, Max Müller, Helga Seyschab

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 706 KB

english, 1991

30

Heterozygous expression of X-linked chondrodysplasia punctata

Doris Wöhrle, Gotthold Barbi, Wolfgang Schulz, Peter Steinbach

Journal:

Year:

1990

Language:

english

File:

PDF, 642 KB

english, 1990

31

An unusual variant chromosome 9 due to disturbance of normal chromatin condensation at band p12?

Mahmoud Djalali, Gotthold Barbi, Peter Steinbach

Journal:

Clinical Genetics

Year:

1986

Language:

english

File:

PDF, 86 KB

english, 1986

32

Diagnosis of retinoblastoma in a presymptomatic stage after detection of interstitial chromosomal deletion 13q

Kennerknecht, Ingo, Barbi, Gotthold, Greher, Jürgen

Journal:

Ophthalmic Genetics

Year:

1994

Language:

english

File:

PDF, 466 KB

english, 1994

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