Publications by authors named "Katrin Hinderhofer"

50Publications

A boy with Silver-Russell syndrome and Sotos syndrome.

Am J Med Genet A 2020 Nov 15. Epub 2020 Nov 15.

Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.61967DOI Listing
November 2020

Promoter Variants Effect Gene Expression in Pulmonary Arterial Hypertension Patients.

Genes (Basel) 2020 Oct 6;11(10). Epub 2020 Oct 6.

Laboratory for Molecular Genetic Diagnostics, Institute of Human Genetics, Heidelberg University, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.

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http://dx.doi.org/10.3390/genes11101168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7601247PMC
October 2020

Quantitative retrospective natural history modeling for orphan drug development.

J Inherit Metab Dis 2020 Aug 26. Epub 2020 Aug 26.

Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1002/jimd.12304DOI Listing
August 2020

Genetic Predisposition to High-Altitude Pulmonary Edema.

High Alt Med Biol 2020 03 23;21(1):28-36. Epub 2020 Jan 23.

Laboratory of Molecular Genetic Diagnostics, Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.

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http://dx.doi.org/10.1089/ham.2019.0083DOI Listing
March 2020

FMR1 expression in human granulosa cells increases with exon 1 CGG repeat length depending on ovarian reserve.

Reprod Biol Endocrinol 2018 Jul 7;16(1):65. Epub 2018 Jul 7.

Department of Gynecological Endocrinology and Fertility Disorders, University Women's Hospital, Heidelberg, Germany.

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http://dx.doi.org/10.1186/s12958-018-0383-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6035797PMC
July 2018

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Authors:
Sébastien Küry Geeske M van Woerden Thomas Besnard Martina Proietti Onori Xénia Latypova Meghan C Towne Megan T Cho Trine E Prescott Melissa A Ploeg Stephan Sanders Holly A F Stessman Aurora Pujol Ben Distel Laurie A Robak Jonathan A Bernstein Anne-Sophie Denommé-Pichon Gaëtan Lesca Elizabeth A Sellars Jonathan Berg Wilfrid Carré Øyvind Løvold Busk Bregje W M van Bon Jeff L Waugh Matthew Deardorff George E Hoganson Katherine B Bosanko Diana S Johnson Tabib Dabir Øystein Lunde Holla Ajoy Sarkar Kristian Tveten Julitta de Bellescize Geir J Braathen Paulien A Terhal Dorothy K Grange Arie van Haeringen Christina Lam Ghayda Mirzaa Jennifer Burton Elizabeth J Bhoj Jessica Douglas Avni B Santani Addie I Nesbitt Katherine L Helbig Marisa V Andrews Amber Begtrup Sha Tang Koen L I van Gassen Jane Juusola Kimberly Foss Gregory M Enns Ute Moog Katrin Hinderhofer Nagarajan Paramasivam Sharyn Lincoln Brandon H Kusako Pierre Lindenbaum Eric Charpentier Catherine B Nowak Elouan Cherot Thomas Simonet Claudia A L Ruivenkamp Sihoun Hahn Catherine A Brownstein Fan Xia Sébastien Schmitt Wallid Deb Dominique Bonneau Mathilde Nizon Delphine Quinquis Jamel Chelly Gabrielle Rudolf Damien Sanlaville Philippe Parent Brigitte Gilbert-Dussardier Annick Toutain Vernon R Sutton Jenny Thies Lisenka E L M Peart-Vissers Pierre Boisseau Marie Vincent Andreas M Grabrucker Christèle Dubourg Wen-Hann Tan Nienke E Verbeek Martin Granzow Gijs W E Santen Jay Shendure Bertrand Isidor Laurent Pasquier Richard Redon Yaping Yang Matthew W State Tjitske Kleefstra Benjamin Cogné Slavé Petrovski Kyle Retterer Evan E Eichler Jill A Rosenfeld Pankaj B Agrawal Stéphane Bézieau Sylvie Odent Ype Elgersma Sandra Mercier

Am J Hum Genet 2017 Nov;101(5):768-788

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

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http://dx.doi.org/10.1016/j.ajhg.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673671PMC
November 2017

Critical appraisal of genotype assessment in molybdenum cofactor deficiency.

J Inherit Metab Dis 2017 11 12;40(6):801-811. Epub 2017 Sep 12.

Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, and Center for Rare Disorders, Heidelberg University Hospital, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-017-0077-8DOI Listing
November 2017

FMR1 and AKT/mTOR signalling pathways: potential functional interactions controlling folliculogenesis in human granulosa cells.

Reprod Biomed Online 2017 Nov 4;35(5):485-493. Epub 2017 Aug 4.

Reproduction Genetics Unit, Department of Gynecological Endocrinology and Fertility Disorders, University Women's Hospital, 69120 Heidelberg, Germany.

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http://dx.doi.org/10.1016/j.rbmo.2017.07.016DOI Listing
November 2017

Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature.

Neuropediatrics 2017 10 19;48(5):371-377. Epub 2017 Jun 19.

Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1055/s-0037-1603977DOI Listing
October 2017

Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.

Am J Med Genet A 2017 Jul 10;173(7):1878-1886. Epub 2017 May 10.

Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.38252DOI Listing
July 2017

First identification of mutation in heritable pulmonary arterial hypertension.

Clin Sci (Lond) 2017 Apr 10;131(8):689-698. Epub 2017 Feb 10.

Centre for Pulmonary Hypertension, Thoraxclinic at the University Hospital Heidelberg, Röntgenstrasse 1, 69126 Heidelberg, Germany.

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http://clinsci.org/lookup/doi/10.1042/CS20160930
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http://dx.doi.org/10.1042/CS20160930DOI Listing
April 2017

EIF2AK4 mutation as "second hit" in hereditary pulmonary arterial hypertension.

Respir Res 2016 11 4;17(1):141. Epub 2016 Nov 4.

Institute of Human Genetics, Heidelberg University, Im Neuenheimer Feld 366, 69120, Heidelberg, Germany.

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http://dx.doi.org/10.1186/s12931-016-0457-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5095976PMC
November 2016

Identification of genetic defects in pulmonary arterial hypertension by a new gene panel diagnostic tool.

Clin Sci (Lond) 2016 11 9;130(22):2043-2052. Epub 2016 Sep 9.

Institute of Human Genetics, Heidelberg University, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany

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http://dx.doi.org/10.1042/CS20160531DOI Listing
November 2016

Ornithine transcarbamylase deficiency of a male newborn with fatal outcome.

Int J Legal Med 2016 May 11;130(3):783-5. Epub 2016 Jan 11.

Institute of Legal Medicine, University Hospital Düsseldorf, 40225, Düsseldorf, Germany.

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http://dx.doi.org/10.1007/s00414-015-1311-2DOI Listing
May 2016

Clinical Research in Vulnerable Populations: Variability and Focus of Institutional Review Boards' Responses.

PLoS One 2015 14;10(8):e0135997. Epub 2015 Aug 14.

Pediatric Neurology and Metabolic Medicine, Center for Rare Disease, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0135997PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4537221PMC
May 2016

Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening.

JIMD Rep 2015 5;23:101-12. Epub 2015 May 5.

Department of General Paediatrics, Division for Neuropaediatrics and Metabolic Medicine, Centre for Paediatric and Adolescent Medicine, University of Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany,

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http://dx.doi.org/10.1007/8904_2015_439DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4484909PMC
June 2015

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations.

J Inherit Metab Dis 2015 May 16;38(3):459-66. Epub 2014 Dec 16.

Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, VIC, 3052, Australia,

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http://dx.doi.org/10.1007/s10545-014-9801-9DOI Listing
May 2015

Disruption of SOX6 is associated with a rapid-onset dopa-responsive movement disorder, delayed development, and dysmorphic features.

Pediatr Neurol 2015 Jan 17;52(1):115-8. Epub 2014 Sep 17.

Institute of Human Genetics, Ruprecht-Karls-University Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.08.021DOI Listing
January 2015

The "Wagshurst study": p.Val40Ile transthyretin gene variant causes late-onset cardiomyopathy.

Amyloid 2014 Dec 7;21(4):267-75. Epub 2014 Oct 7.

Department of Cardiology, Angiology, and Respiratory Medicine, University Hospital Heidelberg , Heidelberg , Germany .

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http://dx.doi.org/10.3109/13506129.2014.967846DOI Listing
December 2014

Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.

Am J Med Genet A 2014 Dec 24;164A(12):3088-94. Epub 2014 Sep 24.

Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.36770DOI Listing
December 2014

Noninvasive risk stratification of patients with transthyretin amyloidosis.

JACC Cardiovasc Imaging 2014 May 9;7(5):502-10. Epub 2014 Apr 9.

Department of Cardiology, Angiology, and Respiratory Medicine, University Hospital Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1016/j.jcmg.2014.03.002DOI Listing
May 2014

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

Am J Med Genet A 2011 Feb 28;155A(2):372-9. Epub 2010 Oct 28.

Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.33656DOI Listing
February 2011