Almuth Caliebe

Almuth Caliebe

UNVERIFIED PROFILE

Are you Almuth Caliebe?   Register this Author

Register author
Almuth Caliebe

Almuth Caliebe

Publications by authors named "Almuth Caliebe"

Are you Almuth Caliebe?   Register this Author

63Publications

1760Reads

44Profile Views

Reduced androgen receptor expression in genital skin fibroblasts from patients with 45,X/46,XY mosaicism.

J Clin Endocrinol Metab 2019 Jun 10. Epub 2019 Jun 10.

Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Kiel, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2019-00108DOI Listing
June 2019

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Authors:
Michael T Parsons Emma Tudini Hongyan Li Eric Hahnen Barbara Wappenschmidt Lidia Feliubadaló Cora M Aalfs Simona Agata Kristiina Aittomäki Elisa Alducci María Concepción Alonso-Cerezo Norbert Arnold Bernd Auber Rachel Austin Jacopo Azzollini Judith Balmaña Elena Barbieri Claus R Bartram Ana Blanco Britta Blümcke Sandra Bonache Bernardo Bonanni Åke Borg Beatrice Bortesi Joan Brunet Carla Bruzzone Karolin Bucksch Giulia Cagnoli Trinidad Caldés Almuth Caliebe Maria A Caligo Mariarosaria Calvello Gabriele L Capone Sandrine M Caputo Ileana Carnevali Estela Carrasco Virginie Caux-Moncoutier Pietro Cavalli Giulia Cini Edward M Clarke Paola Concolino Elisa J Cops Laura Cortesi Fergus J Couch Esther Darder Miguel de la Hoya Michael Dean Irmgard Debatin Jesús Del Valle Capucine Delnatte Nicolas Derive Orland Diez Nina Ditsch Susan M Domchek Véronique Dutrannoy Diana M Eccles Hans Ehrencrona Ute Enders D Gareth Evans Ulrike Faust Ute Felbor Irene Feroce Miriam Fine Henrique C R Galvao Gaetana Gambino Andrea Gehrig Francesca Gensini Anne-Marie Gerdes Aldo Germani Jutta Giesecke Viviana Gismondi Carolina Gómez Encarna B Gómez Garcia Sara González Elia Grau Sabine Grill Eva Gross Aliana Guerrieri-Gonzaga Marine Guillaud-Bataille Sara Gutiérrez-Enríquez Thomas Haaf Karl Hackmann Thomas V O Hansen Marion Harris Jan Hauke Tilman Heinrich Heide Hellebrand Karen N Herold Ellen Honisch Judit Horvath Claude Houdayer Verena Hübbel Silvia Iglesias Angel Izquierdo Paul A James Linda A M Janssen Udo Jeschke Silke Kaulfuß Katharina Keupp Marion Kiechle Alexandra Kölbl Sophie Krieger Torben A Kruse Anders Kvist Fiona Lalloo Mirjam Larsen Vanessa L Lattimore Charlotte Lautrup Susanne Ledig Elena Leinert Alexandra L Lewis Joanna Lim Markus Loeffler Adrià López-Fernández Emanuela Lucci-Cordisco Nicolai Maass Siranoush Manoukian Monica Marabelli Laura Matricardi Alfons Meindl Rodrigo D Michelli Setareh Moghadasi Alejandro Moles-Fernández Marco Montagna Gemma Montalban Alvaro N Monteiro Eva Montes Luigi Mori Lidia Moserle Clemens R Müller Christoph Mundhenke Nadia Naldi Katherine L Nathanson Matilde Navarro Heli Nevanlinna Cassandra B Nichols Dieter Niederacher Henriette R Nielsen Kai-Ren Ong Nicholas Pachter Edenir I Palmero Laura Papi Inge Sokilde Pedersen Bernard Peissel Pedro Pérez-Segura Katharina Pfeifer Marta Pineda Esther Pohl-Rescigno Nicola K Poplawski Berardino Porfirio Anne S Quante Juliane Ramser Rui M Reis Françoise Revillion Kerstin Rhiem Barbara Riboli Julia Ritter Daniela Rivera Paula Rofes Andreas Rump Monica Salinas Ana María Sánchez de Abajo Gunnar Schmidt Ulrike Schoenwiese Jochen Seggewiß Ares Solanes Doris Steinemann Mathias Stiller Dominique Stoppa-Lyonnet Kelly J Sullivan Rachel Susman Christian Sutter Sean V Tavtigian Soo H Teo Alex Teulé Mads Thomassen Maria Grazia Tibiletti Silvia Tognazzo Amanda E Toland Eva Tornero Therese Törngren Sara Torres-Esquius Angela Toss Alison H Trainer Christi J van Asperen Marion T van Mackelenbergh Liliana Varesco Gardenia Vargas-Parra Raymonda Varon Ana Vega Ángela Velasco Anne-Sophie Vesper Alessandra Viel Maaike P G Vreeswijk Sebastian A Wagner Anke Waha Logan C Walker Rhiannon J Walters Shan Wang-Gohrke Bernhard H F Weber Wilko Weichert Kerstin Wieland Lisa Wiesmüller Isabell Witzel Achim Wöckel Emma R Woodward Silke Zachariae Valentina Zampiga Christine Zeder-Göß Conxi Lázaro Arcangela De Nicolo Paolo Radice Christoph Engel Rita K Schmutzler David E Goldgar Amanda B Spurdle

Hum Mutat 2019 May 27. Epub 2019 May 27.

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23818DOI Listing
May 2019

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Authors:
Timothy R Rebbeck Tara M Friebel Eitan Friedman Ute Hamann Dezheng Huo Ava Kwong Edith Olah Olufunmilayo I Olopade Angela R Solano Soo-Hwang Teo Mads Thomassen Jeffrey N Weitzel T L Chan Fergus J Couch David E Goldgar Torben A Kruse Edenir Inêz Palmero Sue Kyung Park Diana Torres Elizabeth J van Rensburg Lesley McGuffog Michael T Parsons Goska Leslie Cora M Aalfs Julio Abugattas Julian Adlard Simona Agata Kristiina Aittomäki Lesley Andrews Irene L Andrulis Adalgeir Arason Norbert Arnold Banu K Arun Ella Asseryanis Leo Auerbach Jacopo Azzollini Judith Balmaña Monica Barile Rosa B Barkardottir Daniel Barrowdale Javier Benitez Andreas Berger Raanan Berger Amie M Blanco Kathleen R Blazer Marinus J Blok Valérie Bonadona Bernardo Bonanni Angela R Bradbury Carole Brewer Bruno Buecher Saundra S Buys Trinidad Caldes Almuth Caliebe Maria A Caligo Ian Campbell Sandrine M Caputo Jocelyne Chiquette Wendy K Chung Kathleen B M Claes J Margriet Collée Jackie Cook Rosemarie Davidson Miguel de la Hoya Kim De Leeneer Antoine de Pauw Capucine Delnatte Orland Diez Yuan Chun Ding Nina Ditsch Susan M Domchek Cecilia M Dorfling Carolina Velazquez Bernd Dworniczak Jacqueline Eason Douglas F Easton Ros Eeles Hans Ehrencrona Bent Ejlertsen Christoph Engel Stefanie Engert D Gareth Evans Laurence Faivre Lidia Feliubadaló Sandra Fert Ferrer Lenka Foretova Jeffrey Fowler Debra Frost Henrique C R Galvão Patricia A Ganz Judy Garber Marion Gauthier-Villars Andrea Gehrig Anne-Marie Gerdes Paul Gesta Giuseppe Giannini Sophie Giraud Gord Glendon Andrew K Godwin Mark H Greene Jacek Gronwald Angelica Gutierrez-Barrera Eric Hahnen Jan Hauke Alex Henderson Julia Hentschel Frans B L Hogervorst Ellen Honisch Evgeny N Imyanitov Claudine Isaacs Louise Izatt Angel Izquierdo Anna Jakubowska Paul James Ramunas Janavicius Uffe Birk Jensen Esther M John Joseph Vijai Katarzyna Kaczmarek Beth Y Karlan Karin Kast KConFab Investigators Sung-Won Kim Irene Konstantopoulou Jacob Korach Yael Laitman Adriana Lasa Christine Lasset Conxi Lázaro Annette Lee Min Hyuk Lee Jenny Lester Fabienne Lesueur Annelie Liljegren Noralane M Lindor Michel Longy Jennifer T Loud Karen H Lu Jan Lubinski Eva Machackova Siranoush Manoukian Véronique Mari Cristina Martínez-Bouzas Zoltan Matrai Noura Mebirouk Hanne E J Meijers-Heijboer Alfons Meindl Arjen R Mensenkamp Ugnius Mickys Austin Miller Marco Montagna Kirsten B Moysich Anna Marie Mulligan Jacob Musinsky Susan L Neuhausen Heli Nevanlinna Joanne Ngeow Huu Phuc Nguyen Dieter Niederacher Henriette Roed Nielsen Finn Cilius Nielsen Robert L Nussbaum Kenneth Offit Anna Öfverholm Kai-Ren Ong Ana Osorio Laura Papi Janos Papp Barbara Pasini Inge Sokilde Pedersen Ana Peixoto Nina Peruga Paolo Peterlongo Esther Pohl Nisha Pradhan Karolina Prajzendanc Fabienne Prieur Pascal Pujol Paolo Radice Susan J Ramus Johanna Rantala Muhammad Usman Rashid Kerstin Rhiem Mark Robson Gustavo C Rodriguez Mark T Rogers Vilius Rudaitis Ane Y Schmidt Rita Katharina Schmutzler Leigha Senter Payal D Shah Priyanka Sharma Lucy E Side Jacques Simard Christian F Singer Anne-Bine Skytte Thomas P Slavin Katie Snape Hagay Sobol Melissa Southey Linda Steele Doris Steinemann Grzegorz Sukiennicki Christian Sutter Csilla I Szabo Yen Y Tan Manuel R Teixeira Mary Beth Terry Alex Teulé Abigail Thomas Darcy L Thull Marc Tischkowitz Silvia Tognazzo Amanda Ewart Toland Sabine Topka Alison H Trainer Nadine Tung Christi J van Asperen Annemieke H van der Hout Lizet E van der Kolk Rob B van der Luijt Mattias Van Heetvelde Liliana Varesco Raymonda Varon-Mateeva Ana Vega Cynthia Villarreal-Garza Anna von Wachenfeldt Lisa Walker Shan Wang-Gohrke Barbara Wappenschmidt Bernhard H F Weber Drakoulis Yannoukakos Sook-Yee Yoon Cristina Zanzottera Jamal Zidan Kristin K Zorn Christina G Hutten Selkirk Peter J Hulick Georgia Chenevix-Trench Amanda B Spurdle Antonis C Antoniou Katherine L Nathanson

Hum Mutat 2018 05 12;39(5):593-620. Epub 2018 Mar 12.

Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5903938PMC
May 2018

Reply to letter by Dr. G. Corso.

Arch Gynecol Obstet 2018 04 28;297(4):1069. Epub 2018 Feb 28.

Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00404-018-4682-zDOI Listing
April 2018

CDH1 mutation screen in a BRCA1/2-negative familial breast-/ovarian cancer cohort.

Arch Gynecol Obstet 2018 01 9;297(1):147-152. Epub 2017 Oct 9.

Department of Gynaecology and Obstetrics, University Hospitals of Schleswig-Holstein, Campus Kiel, Arnold-Heller Strasse 3, Haus 24, 24105, Kiel, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00404-017-4551-1DOI Listing
January 2018

Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1.

Eur J Med Genet 2016 Oct 7;59(10):549-53. Epub 2016 Sep 7.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2016.09.002DOI Listing
October 2016

The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome.

Epigenomics 2015 Oct 6;7(7):1089-97. Epub 2015 Nov 6.

Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2217/epi.15.73DOI Listing
October 2015

Mutations in CDK5RAP2 cause Seckel syndrome.

Mol Genet Genomic Med 2015 Sep 24;3(5):467-80. Epub 2015 May 24.

Institute of Human Genetics, University of Cologne Cologne, Germany ; Center for Molecular Medicine Cologne (CMMC), University of Cologne Cologne, Germany ; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne Cologne, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4585455PMC
September 2015

Array-based DNA methylation analysis in individuals with developmental delay/intellectual disability and normal molecular karyotype.

Eur J Med Genet 2015 Aug 21;58(8):419-25. Epub 2015 May 21.

Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2015.05.001DOI Listing
August 2015

Partial hydatidiform mole with extensive angiomatoid vessel configuration in a first trimester miscarriage.

Int J Gynecol Pathol 2015 May;34(3):253-6

Institute of Pathology (H.F.) Department of Obstetrics and Gynecology (J.O.), Diakonissenkrankenhaus Flensburg, Flensburg Department of Human Genetics (A.C.), University of Kiel, Kiel Institute of Pathology of the Charite (N.S.), Humboldt-University, Berlin Institute of Pathology (K.H.), Medical School, Hannover, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/PGP.0000000000000161DOI Listing
May 2015

The Co-Occurrence of Tricho-Rhino-Phalangeal Syndrome and Early-Onset Levodopa-Sensitive Parkinsonism.

Mov Disord Clin Pract 2014 Dec 24;1(4):379-380. Epub 2014 Sep 24.

Department of Neurology University Hospital Schleswig-Holstein Campus Kiel Kiel Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mdc3.12085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6183015PMC
December 2014

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

Am J Hum Genet 2014 Dec;95(6):763-70

Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2014.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259972PMC
December 2014

A familial disorder of altered DNA-methylation.

J Med Genet 2014 Jun 10;51(6):407-12. Epub 2014 Apr 10.

Institute of Human Genetics, University Hospital Schleswig-Holstein Campus Kiel/Christian-Albrechts University Kiel, Kiel, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2013-102149DOI Listing
June 2014

Array-based DNA methylation profiling in male infertility reveals allele-specific DNA methylation in PIWIL1 and PIWIL2.

Fertil Steril 2014 Apr 10;101(4):1097-1103.e1. Epub 2014 Feb 10.

Institute of Human Genetics, Christian-Albrechts-University Kiel and University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.fertnstert.2013.12.054DOI Listing
April 2014

Analysis of SYCP3 encoding synaptonemal complex protein 3 in human aneuploidies.

Arch Gynecol Obstet 2013 Nov 16;288(5):1153-8. Epub 2013 May 16.

Institute of Human Genetics, University Hospital RWTH Aachen, 52074, Aachen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00404-013-2861-5DOI Listing
November 2013

Microdeletion 5q14.3 and anomalies of brain development.

Am J Med Genet A 2013 Sep 4;161A(9):2124-33. Epub 2013 Jul 4.

Institute of Human Genetics, Albert-Ludwigs University Medical Centre Freiburg, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36020DOI Listing
September 2013

Frequency and characterization of DNA methylation defects in children born SGA.

Eur J Hum Genet 2013 Aug 12;21(8):838-43. Epub 2012 Dec 12.

Institute of Human Genetics, Christian-Albrechts-University Kiel and University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2012.262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722674PMC
August 2013

CDKL5 mutations as a cause of severe epilepsy in infancy: clinical and electroencephalographic long-term course in 4 patients.

J Child Neurol 2013 Jul 25;28(7):937-41. Epub 2012 Jul 25.

Department of Neuropediatrics, University Medical Center Schleswig-Holstein (UKSH), Kiel, Germany.

View Article

Download full-text PDF

Source
http://journals.sagepub.com/doi/10.1177/0883073812451497
Publisher Site
http://dx.doi.org/10.1177/0883073812451497DOI Listing
July 2013

Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: a novel phenotype.

Am J Med Genet A 2012 Nov 17;158A(11):2941-5. Epub 2012 Sep 17.

Pediatric Orthopedics Service, Department of Orthopedics, Kasturba Medical College, Manipal University, Manipal, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35618DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3477260PMC
November 2012

Normal prenatal ultrasound findings in a case with de novo mosaic small supernumerary marker chromosome 18--how to counsel?

J Matern Fetal Neonatal Med 2012 Feb 8;25(2):200-2. Epub 2011 Apr 8.

Department of Gynecology and Obstetrics, Christian-Albrechts-University Kiel and Universitätsklinikum Schleswig-Holstein, Campus Kiel, Kiel, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3109/14767058.2011.566949DOI Listing
February 2012

Chromosomal mosaicisms in prenatal diagnosis: correlation with first trimester screening and clinical outcome.

J Perinat Med 2012 Jan 6;40(3):215-23. Epub 2012 Jan 6.

Department of Gynecology and Obstetrics, University Hospital Schleswig-Holstein, Campus Kiel and Christian-Albrechts-University Kiel, Kiel, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1515/jpm.2011.130DOI Listing
January 2012

A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation.

Eur J Med Genet 2011 Sep-Oct;54(5):e501-4. Epub 2011 Jun 7.

Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2011.05.004DOI Listing
December 2011

A 2 Mb deletion in 14q13 associated with severe developmental delay and hemophagocytic lymphohistiocytosis.

Eur J Med Genet 2011 Sep-Oct;54(5):e505-9. Epub 2011 Jun 16.

Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2011.05.005DOI Listing
December 2011

Isolated trisomy 7q21.2-31.31 resulting from a complex familial rearrangement involving chromosomes 7, 9 and 10.

Mol Cytogenet 2011 Dec 5;4:28. Epub 2011 Dec 5.

Institute of Human Genetics, Christian-Albrechts-University of Kiel, University Hospital Schleswig-Holstein, Campus Kiel, Arnold-Heller-Str.3, Haus 10, Kiel, Germany.

View Article

Download full-text PDF

Source
http://molecularcytogenetics.biomedcentral.com/articles/10.1
Publisher Site
http://dx.doi.org/10.1186/1755-8166-4-28DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3261807PMC
December 2011

A 1 Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome Report, antenatal findings and review.

Eur J Med Genet 2011 May-Jun;54(3):343-7. Epub 2011 Mar 21.

Bereich Pränatalmedizin, Klinik für Frauenheilkunde und Geburtshilfe, Universität zu Lübeck, Lübeck, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2011.02.009DOI Listing
September 2011

Dyschromatosis ptychotropica: an unusual pigmentary disorder in a boy with epileptic encephalopathy and progressive atrophy of the central nervous system-a novel entity?

Eur J Pediatr 2010 Apr 26;169(4):495-500. Epub 2009 Aug 26.

Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel Campus, Arnold-Heller-Str. 3, Haus 9, 24105, Kiel, Germany.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00431-009-1046-5
Publisher Site
http://dx.doi.org/10.1007/s00431-009-1046-5DOI Listing
April 2010

Microarray-based DNA methylation analysis of imprinted loci in a patient with transient neonatal diabetes mellitus.

Am J Med Genet A 2008 Dec;146A(24):3227-9

Institute of Human Genetics, University Hospital Schleswig-Holstein, Campus Kiel, Christian-Albrechts University, Kiel, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32577DOI Listing
December 2008

Catel-Manzke syndrome: two new patients and a critical review of the literature.

Eur J Med Genet 2008 Sep-Oct;51(5):452-65. Epub 2008 Apr 11.

Privat, Heikendorf, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2008.03.005DOI Listing
November 2008

Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD).

J Glaucoma 2006 Dec;15(6):499-504

Institute of Human Genetics, Schwabachanlage 10, 91054 Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.ijg.0000243467.28590.6aDOI Listing
December 2006

Gene symbol: JAG1. Disease: tetralogy of Fallot.

Hum Genet 2006 Jul;119(6):674

Institut of Human Genetics and Medical Biology, Halle, Germany.

View Article

Download full-text PDF

Source
July 2006

Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia.

Eur J Pediatr 2002 Nov 9;161(11):619-22. Epub 2002 Oct 9.

Department of Medical Genetics and Child Development, Medical Faculty, University of Pécs, Józesf A u 7, 7623 Pécs, Hungary.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00431-002-0977-xDOI Listing
November 2002