Anita Rauch

Anita Rauch

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Anita Rauch

Anita Rauch

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Rare copy number variants in individuals at clinical high risk for psychosis: Enrichment of synaptic/brain-related functional pathways.

Am J Med Genet B Neuropsychiatr Genet 2020 03 19;183(2):140-151. Epub 2019 Nov 19.

Department of Child and Adolescent Psychiatry and Psychotherapy, University Hospital of Psychiatry, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1002/ajmg.b.32770DOI Listing
March 2020

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2020 01 29;87(2):100-112. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6925349PMC
January 2020

High-resolution chromosomal microarray analysis for copy-number variations in high-functioning autism reveals large aberration typical for intellectual disability.

J Neural Transm (Vienna) 2020 01 14;127(1):81-94. Epub 2019 Dec 14.

Department of Child and Adolescent Psychiatry and Psychotherapy, University Hospital of Psychiatry Zurich, University of Zurich, Wagistrasse 12, 8952, Schlieren, Switzerland.

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http://dx.doi.org/10.1007/s00702-019-02114-9DOI Listing
January 2020

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Am J Hum Genet 2019 06 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556837PMC
June 2019

CUGC for Simpson-Golabi-Behmel syndrome (SGBS).

Eur J Hum Genet 2019 Apr 25;27(4):663-668. Epub 2019 Jan 25.

Service de Génétique, Centre Hospitalier Universitaire, Tours, France.

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http://www.nature.com/articles/s41431-019-0339-z
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http://dx.doi.org/10.1038/s41431-019-0339-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460641PMC
April 2019

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.

Am J Hum Genet 2018 12;103(6):948-967

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; NIH Undiagnosed Diseases Program, NHGRI and the Common Fund, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.11.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288279PMC
December 2018

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Genet Med 2018 09 4;20(9):965-975. Epub 2018 Jan 4.

Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.

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http://www.nature.com/articles/gim2017221
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http://dx.doi.org/10.1038/gim.2017.221DOI Listing
September 2018

Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency.

Eur J Med Genet 2018 Apr 7;61(4):189-196. Epub 2017 Dec 7.

Institute of Medical Genetics, University of Zurich, Australia.

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http://dx.doi.org/10.1016/j.ejmg.2017.12.002DOI Listing
April 2018

Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome.

Am J Med Genet A 2018 01 23;176(1):134-138. Epub 2017 Nov 23.

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

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http://dx.doi.org/10.1002/ajmg.a.38529DOI Listing
January 2018

Confirmation of mutations in as a novel cause of vitamin B -dependent epilepsy.

J Med Genet 2017 12 8;54(12):809-814. Epub 2017 Apr 8.

radiz - "Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich", University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1136/jmedgenet-2017-104521DOI Listing
December 2017

High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder.

BMC Med Genomics 2017 11 28;10(1):68. Epub 2017 Nov 28.

Department of Child and Adolescent Psychiatry and Psychotherapy, University Hospital of Psychiatry Zurich, University of Zurich, Neumünsterallee 9, 8032, Zürich, Switzerland.

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http://dx.doi.org/10.1186/s12920-017-0299-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5704537PMC
November 2017

Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.

Eur J Med Genet 2017 Sep 21;60(9):451-464. Epub 2017 Jun 21.

Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland; Neuroscience Center Zurich, University of Zurich, Zurich, Switzerland; Zurich Center of Integrative Human Physiology, University of Zurich, Zurich, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.06.004DOI Listing
September 2017

Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders.

Mol Syndromol 2017 Aug 13;8(5):266-271. Epub 2017 Jun 13.

Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1159/000477189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5582502PMC
August 2017

Microarrays in prenatal diagnosis.

Best Pract Res Clin Obstet Gynaecol 2017 Jul 23;42:53-63. Epub 2017 Jan 23.

Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1016/j.bpobgyn.2017.01.003DOI Listing
July 2017

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 05;49(6):969

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http://dx.doi.org/10.1038/ng0617-969cDOI Listing
May 2017

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 Feb 9;49(2):238-248. Epub 2017 Jan 9.

Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473428PMC
February 2017

The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.

J Inherit Metab Dis 2016 09 24;39(5):733-741. Epub 2016 Jun 24.

Division of Child Neurology, University Children's Hospital Zurich, Steinwiesstrasse 75, 8032, Zurich, Switzerland.

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http://dx.doi.org/10.1007/s10545-016-9955-8DOI Listing
September 2016

N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics.

J Inherit Metab Dis 2016 Jan 15;39(1):131-7. Epub 2015 Jul 15.

Division of Child Neurology, University Children's Hospital Zurich, Steinwiesstrasse 75, 8032, Zurich, Switzerland.

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http://dx.doi.org/10.1007/s10545-015-9876-yDOI Listing
January 2016

A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations.

Muscle Nerve 2015 Oct 1;52(4):668-73. Epub 2015 Jun 1.

Department of Paediatric Neurology, University Children's Hospital, Steinwiesstrasse 75, 8032, Zürich, Switzerland.

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http://dx.doi.org/10.1002/mus.24687DOI 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.

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

Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.

Hum Mol Genet 2015 Jul 3;24(13):3708-17. Epub 2015 Apr 3.

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

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http://dx.doi.org/10.1093/hmg/ddv115DOI Listing
July 2015

Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations.

Am J Med Genet A 2015 Feb 30;167A(2):394-9. Epub 2014 Oct 30.

Institute of Human Genetics, University Medical Centre of the Johannes Gutenberg University, Mainz, Germany.

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http://dx.doi.org/10.1002/ajmg.a.36838DOI Listing
February 2015

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome.

Eur J Pediatr 2014 Sep 29;173(9):1253-6. Epub 2014 Jun 29.

Department of Pediatric Cardiology and Intensive Care Medicine, University Hospital, Georg-August University Göttingen, Robert-Koch Str. 40, 37075, Göttingen, Germany,

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http://link.springer.com/content/pdf/10.1007/s00431-014-2368
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http://link.springer.com/10.1007/s00431-014-2368-5
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http://dx.doi.org/10.1007/s00431-014-2368-5DOI Listing
September 2014

Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene.

Neuropediatrics 2014 Aug 7;45(4):261-4. Epub 2014 Apr 7.

Division of Neurology, Department of Pediatrics, University Children's Hospital Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1055/s-0034-1372302DOI Listing
August 2014

Exome sequencing in unspecific intellectual disability and rare disorders.

Authors:
Anita Rauch

Mol Cytogenet 2014 21;7(Suppl 1 Proceedings of the International Conference on Human):I26. Epub 2014 Jan 21.

University of Zurich, Institute of Medical Genetics, Schlieren-Zurich, Switzerland.

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http://dx.doi.org/10.1186/1755-8166-7-S1-I26DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4042231PMC
June 2014

LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition.

Dis Model Mech 2014 May 13;7(5):535-45. Epub 2014 Mar 13.

Human DNA Damage Response Disorders Group, Genome Damage and Stability Centre, School of Life Sciences, University of Sussex, Brighton, BN1 9RQ, UK.

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http://dx.doi.org/10.1242/dmm.014464DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4007405PMC
May 2014

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.

Eur J Hum Genet 2013 Dec 1;21(12):1349-55. Epub 2013 May 1.

1] Department of cardiovascular sciences, Centre for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium [2] Department of Pediatrics, UZ Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1038/ejhg.2013.86DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3831085PMC
December 2013

Biallelic SEMA3A defects cause a novel type of syndromic short stature.

Am J Med Genet A 2013 Nov 3;161A(11):2880-9. Epub 2013 Oct 3.

Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.36250DOI Listing
November 2013

[Basic aspects of medical genetics].

Praxis (Bern 1994) 2013 Nov;102(24):1457-65

Institut für Medizinische Genetik, Universität Zürich, Schlieren.

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http://dx.doi.org/10.1024/1661-8157/a001487DOI Listing
November 2013

[Intellectual disability - a frequent reason for referral to medical genetics].

Praxis (Bern 1994) 2013 Nov;102(24):1467-73

Institut für Medizinische Genetik, Universität Zürich, Schlieren.

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http://dx.doi.org/10.1024/1661-8157/a001488DOI Listing
November 2013

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.

Nephron Physiol 2012 23;122(1-2):1-6. Epub 2013 Feb 23.

Centre for Nephrology, University College London, London, UK.

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http://dx.doi.org/10.1159/000349989DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3782194PMC
October 2013

Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria.

Am J Med Genet A 2013 Aug 21;161A(8):1853-9. Epub 2013 Jun 21.

Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.35994DOI Listing
August 2013

Rare copy number variants are a common cause of short stature.

PLoS Genet 2013 14;9(3):e1003365. Epub 2013 Mar 14.

Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.

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http://dx.doi.org/10.1371/journal.pgen.1003365DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3597495PMC
June 2013

Macrocerebellum: significance and pathogenic considerations.

Cerebellum 2012 Dec;11(4):1026-36

Department of Pediatric Neurology, University Children's Hospital of Zurich, Steinwiesstrasse 75, 8032, Zurich, Switzerland.

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http://dx.doi.org/10.1007/s12311-012-0379-1DOI Listing
December 2012

7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B).

Eur J Med Genet 2011 Sep-Oct;54(5):e495-500. Epub 2011 Jun 21.

Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2011.06.002DOI Listing
December 2011

Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum.

Eur J Med Genet 2011 Sep-Oct;54(5):e521-4. Epub 2011 Jul 12.

Institute of Human Genetics, University Erlangen-Nuremberg, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2011.06.007DOI Listing
December 2011

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Authors:
Sébastien Jacquemont Alexandre Reymond Flore Zufferey Louise Harewood Robin G Walters Zoltán Kutalik Danielle Martinet Yiping Shen Armand Valsesia Noam D Beckmann Gudmar Thorleifsson Marco Belfiore Sonia Bouquillon Dominique Campion Nicole de Leeuw Bert B A de Vries Tõnu Esko Bridget A Fernandez Fernando Fernández-Aranda José Manuel Fernández-Real Mònica Gratacòs Audrey Guilmatre Juliane Hoyer Marjo-Riitta Jarvelin R Frank Kooy Ants Kurg Cédric Le Caignec Katrin Männik Orah S Platt Damien Sanlaville Mieke M Van Haelst Sergi Villatoro Gomez Faida Walha Bai-Lin Wu Yongguo Yu Azzedine Aboura Marie-Claude Addor Yves Alembik Stylianos E Antonarakis Benoît Arveiler Magalie Barth Nathalie Bednarek Frédérique Béna Sven Bergmann Mylène Beri Laura Bernardini Bettina Blaumeiser Dominique Bonneau Armand Bottani Odile Boute Han G Brunner Dorothée Cailley Patrick Callier Jean Chiesa Jacqueline Chrast Lachlan Coin Charles Coutton Jean-Marie Cuisset Jean-Christophe Cuvellier Albert David Bénédicte de Freminville Bruno Delobel Marie-Ange Delrue Bénédicte Demeer Dominique Descamps Gérard Didelot Klaus Dieterich Vittoria Disciglio Martine Doco-Fenzy Séverine Drunat Bénédicte Duban-Bedu Christèle Dubourg Julia S El-Sayed Moustafa Paul Elliott Brigitte H W Faas Laurence Faivre Anne Faudet Florence Fellmann Alessandra Ferrarini Richard Fisher Elisabeth Flori Lukas Forer Dominique Gaillard Marion Gerard Christian Gieger Stefania Gimelli Giorgio Gimelli Hans J Grabe Agnès Guichet Olivier Guillin Anna-Liisa Hartikainen Délphine Heron Loyse Hippolyte Muriel Holder Georg Homuth Bertrand Isidor Sylvie Jaillard Zdenek Jaros Susana Jiménez-Murcia Géraldine Joly Helas Philippe Jonveaux Satu Kaksonen Boris Keren Anita Kloss-Brandstätter Nine V A M Knoers David A Koolen Peter M Kroisel Florian Kronenberg Audrey Labalme Emilie Landais Elisabetta Lapi Valérie Layet Solenn Legallic Bruno Leheup Barbara Leube Suzanne Lewis Josette Lucas Kay D MacDermot Pall Magnusson Christian Marshall Michèle Mathieu-Dramard Mark I McCarthy Thomas Meitinger Maria Antonietta Mencarelli Giuseppe Merla Alexandre Moerman Vincent Mooser Fanny Morice-Picard Mafalda Mucciolo Matthias Nauck Ndeye Coumba Ndiaye Ann Nordgren Laurent Pasquier Florence Petit Rolph Pfundt Ghislaine Plessis Evica Rajcan-Separovic Gian Paolo Ramelli Anita Rauch Roberto Ravazzolo Andre Reis Alessandra Renieri Cristobal Richart Janina S Ried Claudine Rieubland Wendy Roberts Katharina M Roetzer Caroline Rooryck Massimiliano Rossi Evald Saemundsen Véronique Satre Claudia Schurmann Engilbert Sigurdsson Dimitri J Stavropoulos Hreinn Stefansson Carola Tengström Unnur Thorsteinsdóttir Francisco J Tinahones Renaud Touraine Louis Vallée Ellen van Binsbergen Nathalie Van der Aa Catherine Vincent-Delorme Sophie Visvikis-Siest Peter Vollenweider Henry Völzke Anneke T Vulto-van Silfhout Gérard Waeber Carina Wallgren-Pettersson Robert M Witwicki Simon Zwolinksi Joris Andrieux Xavier Estivill James F Gusella Omar Gustafsson Andres Metspalu Stephen W Scherer Kari Stefansson Alexandra I F Blakemore Jacques S Beckmann Philippe Froguel

Nature 2011 Aug 31;478(7367):97-102. Epub 2011 Aug 31.

Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1038/nature10406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637175PMC
August 2011

The smallest teeth in the world are caused by mutations in the PCNT gene.

Am J Med Genet A 2011 Jun 12;155A(6):1398-403. Epub 2011 May 12.

Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Craniofacial Genetics Laboratory, Faculty of Dentistry, Chiang Mai University, Thailand.

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http://dx.doi.org/10.1002/ajmg.a.33984DOI Listing
June 2011

The shortest of the short: pericentrin mutations and beyond.

Authors:
Anita Rauch

Best Pract Res Clin Endocrinol Metab 2011 Feb;25(1):125-30

Institute of Medical Genetics, Schorenstrasse 16, Schwerzenbach-Zurich, Switzerland.

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http://dx.doi.org/10.1016/j.beem.2010.10.015DOI Listing
February 2011

The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum.

Best Pract Res Clin Endocrinol Metab 2011 Feb;25(1):131-42

Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Schwabachanlage 10, Erlangen, Germany.

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http://dx.doi.org/10.1016/j.beem.2010.08.004DOI Listing
February 2011