Pia Hermanns

Pia Hermanns

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Pia Hermanns

Pia Hermanns

Publications by authors named "Pia Hermanns"

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Novel Mutations in the NKX2.1 gene and the PAX8 gene in a Boy with Brain-Lung-Thyroid Syndrome.

Exp Clin Endocrinol Diabetes 2018 02 27;126(2):85-90. Epub 2017 Sep 27.

Department of Pediatrics, Johannes Gutenberg University Medical School, Mainz, Germany.

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http://dx.doi.org/10.1055/s-0043-119875DOI Listing
February 2018

A further case of brain-lung-thyroid syndrome with deletion proximal to NKX2-1.

Eur J Med Genet 2017 May 7;60(5):257-260. Epub 2017 Mar 7.

Royal Hospital for Children, Glasgow, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.03.001DOI Listing
May 2017

Familial Central Hypothyroidism Caused by a Novel IGSF1 Gene Mutation.

Thyroid 2016 12 25;26(12):1693-1700. Epub 2016 Jul 25.

5 Faculty of Medical Science, Tel Hai Academic College Upper Galilee , Israel .

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https://www.liebertpub.com/doi/10.1089/thy.2015.0672
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http://dx.doi.org/10.1089/thy.2015.0672DOI Listing
December 2016

A novel deletion in the thyrotropin Beta-subunit gene identified by array comparative genomic hybridization analysis causes central congenital hypothyroidism in a boy originating from Turkey.

Horm Res Paediatr 2014 8;82(3):201-5. Epub 2014 Jul 8.

Department of Pediatrics, Johannes Gutenberg University Medical School, Mainz, Germany.

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http://dx.doi.org/10.1159/000362413DOI Listing
May 2015

A new mutation in the promoter region of the PAX8 gene causes true congenital hypothyroidism with thyroid hypoplasia in a girl with Down's syndrome.

Thyroid 2014 Jun 21;24(6):939-44. Epub 2014 Mar 21.

1 Department of Pediatrics, Johannes Gutenberg University Medical School , Mainz, Germany .

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http://dx.doi.org/10.1089/thy.2013.0248DOI Listing
June 2014

A new heterozygous mutation (D196N) in the Gs alpha gene as a cause for pseudohypoparathyroidism type IA in a boy who had gallstones.

J Pediatr Endocrinol Metab 2011 ;24(5-6):297-301

Children's Hospital of the Johannes Gutenberg-University, Mainz, Germany.

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http://dx.doi.org/10.1515/jpem.2011.172DOI Listing
August 2011

Viperin mRNA is a novel target for the human RNase MRP/RNase P endoribonuclease.

Cell Mol Life Sci 2011 Jul 30;68(14):2469-80. Epub 2010 Oct 30.

Department of Biomolecular Chemistry, Nijmegen Centre for Molecular Life Sciences, Institute for Molecules and Materials, Radboud University Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s00018-010-0568-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3121944PMC
July 2011

Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis.

J Clin Endocrinol Metab 2011 Jun 30;96(6):E977-81. Epub 2011 Mar 30.

Department of Pediatrics, Johannes Gutenberg University Medical School, Langenbeckstrasse 1, D-55101 Mainz, Germany.

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http://dx.doi.org/10.1210/jc.2010-2341DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3100746PMC
June 2011

Non-immune goiter and hypothyroidism in a 19-week fetus: a plea for conservative treatment.

J Pediatr 2010 Jun 20;156(6):1026-1029. Epub 2010 Mar 20.

Endocrinology Service and Research Center and Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montréal, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2010.01.018DOI Listing
June 2010

Brachy-syndactyly caused by loss of Sfrp2 function.

J Cell Physiol 2008 Oct;217(1):127-37

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://doi.wiley.com/10.1002/jcp.21483
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http://dx.doi.org/10.1002/jcp.21483DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2677682PMC
October 2008

Short stature and metaphyeal dysplasia due to cartilage-hair hypoplasia.

J Pediatr Endocrinol Metab 2008 Mar;21(3):209-11

Department of Endocrinology and Diabetes, Royal Children's Hospital, Brisbane, Australia.

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http://dx.doi.org/10.1515/jpem.2008.21.3.209DOI Listing
March 2008

RMRP mutations in cartilage-hair hypoplasia.

Am J Med Genet A 2006 Oct;140(19):2121-30

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.31331DOI Listing
October 2006

Expression profiling of human fetal growth plate cartilage by EST sequencing.

Matrix Biol 2005 Dec 19;24(8):530-8. Epub 2005 Sep 19.

Institute of Human Genetics, Friedrich Alexander University, Erlangen-Nuremberg, Schwabachanlage 10, D-91054 Erlangen, Germany.

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http://dx.doi.org/10.1016/j.matbio.2005.08.002DOI Listing
December 2005

Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia.

Hum Mol Genet 2005 Dec 27;14(23):3723-40. Epub 2005 Oct 27.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1093/hmg/ddi403DOI Listing
December 2005

The natural history of severe anemia in cartilage-hair hypoplasia.

Am J Med Genet A 2005 Sep;138(1):35-40

Intermountain Health Care Clinical Genetics Institute, LDS Hospital, Salt Lake City, Utah 84103, USA.

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http://dx.doi.org/10.1002/ajmg.a.30902DOI Listing
September 2005

Identification of four novel COL10A1 missense mutations in schmid metaphyseal chondrodysplasia: further evidence that collagen X NC1 mutations impair trimer assembly.

Hum Mutat 2004 Apr;23(4):396

Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia.

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http://dx.doi.org/10.1002/humu.9222DOI Listing
April 2004

Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador.

Ophthalmic Genet 2004 Mar;25(1):3-9

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1076/opge.25.1.3.28999DOI Listing
March 2004