Výsledky vyhledávání - "Pia Hermanns"

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

Autor: Małgorzata Kumorowicz-Czoch, Helmut Grasberger, Samuel Refetoff, Pia Hermanns, Joachim Pohlenz

Publikováno v: Experimental and Clinical Endocrinology & Diabetes. 126:85-90

Objective To elucidate the molecular mechanism which causes thyroid dysgenesis (TD) in a boy with brain-lung-thyroid syndrome. Design, patients, measurements We describe a patient with TD, respiratory disease and cerebral palsy who is heterozygous fo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a45a2d9ee95969ca7523a26ce8641a84
https://doi.org/10.1055/s-0043-119875

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

Autor: Mira Kharbanda, Jeremy Jones, Pia Hermanns, Malcolm Donaldson, Iain Horrocks, Joachim Pohlenz

Publikováno v: European Journal of Medical Genetics. 60:257-260

Brain-lung-thyroid syndrome (OMIM #610978) is associated with mutations in the NK2 homeobox 1 (NKX2-1) gene, a transcription factor important in development. 50% of patients are affected by the full triad, comprising congenital hypothyroidism, benign

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::068250adea2820c68a3d466851d6ccfc
https://doi.org/10.1016/j.ejmg.2017.03.001

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Identification of Transient Receptor Potential Channel 4-Associated Protein as a Novel Candidate Gene Causing Congenital Primary Hypothyroidism

Autor: Daniela, Choukair, Birgit, Eberle, Philipp, Vick, Pia, Hermanns, Birgit, Weiss, Nagarajan, Paramasivam, Matthias, Schlesner, Katharina, Lornsen, Ralph, Roeth, Carina, Klutmann, Jennifer, Kreis, Georg F, Hoffmann, Joachim, Pohlenz, Gudrun A, Rappold, Markus, Bettendorf

Publikováno v: Hormone research in paediatrics. 93(1)

Congenital primary hypothyroidism (CH) is the most common endocrine disorder in neonates.To identify novel genes, we performed whole exome sequencing (WES) in 6 patients with CH due to thyroid dysgenesis (TD). The potential effects of the most releva

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8e9d9c09495dfc0f3a171008ed52542b
https://pubmed.ncbi.nlm.nih.gov/32428920

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Determination of thyroid volume in infants with suspected congenital hypothyroidism—the limitations of both subjective and objective evaluation

Autor: Yasmine Ouarezki, Morag Green, Greg Irwin, Malcolm Donaldson, Joachim Pohlenz, Chourouk Mansour, Pia Hermanns, Emily Jane Stenhouse, Jeremy Jones

Publikováno v: BJR Open

Objective: To compare two methods of assessing gland size on thyroid ultrasound in newborn infants with suspected congenital hypothyroidism (CH). Methods: Images from infants with eutopic glands referred between 2007 and 2013 were evaluated blind by

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::717b5ab931ff5b4fcfbcc98e7797c11b
https://doi.org/10.1259/bjro.20200001

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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

Autor: Malcolm Donaldson, John Schulga, Scott Shepherd, Joachim Pohlenz, Pia Hermanns, J Jones, Mohamed Mansor

Publikováno v: Thyroid. 24:939-944

Thyroid dysfunction is common in newborn infants with Down's syndrome (DS), but defects causing classic thyroid dysgenesis (TD) with permanent congenital hypothyroidism (CH) have not been described.We studied a girl with DS and CH who had a mutation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38aefcb6a89f18141bcf8b1ea2c32e17
https://doi.org/10.1089/thy.2013.0248

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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

Autor: Norma Leonard, Pia Hermanns, Robert Couch, Cherise Klotz, Joachim Pohlenz

Publikováno v: Hormone Research in Paediatrics. 82:201-205

Background: Isolated central congenital hypothyroidism (ICCH) is rare but important. Most ICCH patients are diagnosed later, which results in severe growth failure and intellectual disability. Objective: We describe a boy with ICCH due to a large hom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ce9243e6b419270d29d32dbab359a17
https://doi.org/10.1159/000362413

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Two Cases of Thyroid Dysgenesis Caused by Different Novel PAX8 Mutations in the DNA-Binding Region: In Vitro Studies Reveal Different Pathogenic Mechanisms

Autor: Samuel Refetoff, Pia Hermanns, Clemens Freiberg, Helmuth-Günther Dörr, Ronald N. Cohen, Joachim Pohlenz, Helmut Grasberger

Publikováno v: Thyroid. 23:791-796

Mutations in PAX8, a transcription factor gene, cause thyroid dysgenesis (TD). The extreme variability of the thyroid phenotype makes it difficult to identify individuals harboring PAX8 gene mutations. Here we describe two patients with TD and report

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab307523b751dbaf6fb725afe07c8cd0
https://doi.org/10.1089/thy.2012.0141

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Familial Central Hypothyroidism Caused by a Novel IGSF1 Gene Mutation

Autor: Marc-Olivier Turgeon, Joachim Pohlenz, Daniel J. Bernard, Dani Bercovich, Pia Hermanns, Yardena Tenenbaum-Rakover, Shira London

Publikováno v: Thyroid : official journal of the American Thyroid Association. 26(12)

Congenital hypothyroidism of central origin (CH-C) is a rare disease in which thyroid hormone deficiency is caused by insufficient thyrotropin stimulation of a normal thyroid gland. A recently described syndrome of isolated CH-C and macroorchidism wa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92ea6b9031cd945789c58b856ea4cef2
https://pubmed.ncbi.nlm.nih.gov/27310681

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