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Showing page 1 of results 1 - 10 of about 34 matches for "schoenmakers-nadia"

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Syndromes of decreased sensitivity to thyroid hormone
Nadia Schoenmakers
http://www.endocrine-abstracts.org/ea/0049/ea0049s26.2.htm
Published: 2017-05-03

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Genetic disorders of thyroid physiology and development
Nadia Schoenmakers
http://www.endocrine-abstracts.org/ea/0030/ea0030s4.htm
Published: 2012-11-01

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A novel IGSF1 mutation in a large Irish kindred highlights the need for family screening in the IGSF1 deficiency syndrome
Edna Roche; Anne McGowan; Olympia Koulouri; Marc-Olivier Turgeon; Adeline K Nicholas; Emmeline Heffernan; Ranna El-Khairi; Greta
http://www.endocrine-abstracts.org/ea/0051/ea0051p060.htm
Published: 2017-10-30

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Central hypothyroidism with extrathyroidal features due to a partial X-chromosome deletion involving the TBL1X locus
Walree Eva van; Soo-Mi Park; Elena Bochukova; Adeline K Nicholas; Greta Lyons; V Krishna Chatterjee; Nadia Schoenmakers
http://www.endocrine-abstracts.org/ea/0051/ea0051oc5.8.htm
Published: 2017-10-30

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Discordant TSH measurements in an euthyroid child due to a homozygous TSHbeta subunit gene variant with variable immunoreactivity
Walree Eva van; A Emile J Hendriks; Carla Moran; Adeline K Nicholas; Greta Lyons; Anne McGowan; David Halsall; Sue Oddy; V Krish
http://www.endocrine-abstracts.org/ea/0051/ea0051oc2.1.htm
Published: 2017-10-30

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Male IGSF1 deficient humans and mice exhibit somatotroph neurosecretory hyperfunction
Sjoerd D Joustra; Ferdinand Roelfsema; Erik Endert; Trotsenburg ASPaul van; Eric Fliers; Harald J Schneider; Robert P Kosilek; H
http://www.endocrine-abstracts.org/ea/0050/ea0050p269.htm
Published: 2017-10-20

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A novel IGSF1 mutation in a large Irish kindred highlights the need for systematic familial endocrine screening in the IGSF1 deficiency syndrome
Anne McGowan; Edna Roche; Olympia Koulouri; Marc-Olivier Turgeon; Adeline K Nicholas; Emmeline Heffernan; Ranna El-Khairi; Greta
http://www.endocrine-abstracts.org/ea/0050/ea0050oc2.3.htm
Published: 2017-10-20

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Compensated hyperthyrotropinaemia due to partial loss-of-function mutation in TSH receptor gene
Anne McGowan; Carla Moran; Mark Vanderpump; Mehul Dattani; Krishna Chatterjee; Nadia Schoenmakers
http://www.endocrine-abstracts.org/ea/0048/ea0048o3.htm
Published: 2017-03-16

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Severe 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia and Congenital Hypothyroidism Due to Thyroglobulin Mutations in a Single Family: Two Distinct Genetic Disorders with Phenotypic Variability within a Single Family
Caroline Ponmani; Abigail Atterbury; Senthil Seniappan; Nadia Schoenmakers; Adeline K Nicholas; Krishna Chatterjee; Mehul Dattan
http://abstracts.eurospe.org/hrp/0082/hrp0082p2-d2-274.htm
Published: 2014-08-28

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Genotype and Phenotype Characterization of a Series of Italian Patients Affected with Idiopatic Central Hypothyroidism
Marco Bonomi; Paolo Duminuco; Alessandro Salvatoni; Mario Maggi; Fabio Buzi; Alba Pilotta; Giorgio Radetti; Paolo Beck-Peccoz; I
http://abstracts.eurospe.org/hrp/0082/hrp0082p1-d1-239.htm
Published: 2014-08-28

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