Joachim Pohlenz - Publications, H-index & Citations

Joachim Pohlenz

Johannes Gutenberg University of Mainz

45H指数

298论文数

7.4K被引数

收录论文 41

发表时间

Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology

THYROID

IF6.7

2021-03-01

239

OAAI

van Trotsenburg, Paul; Stoupa, Athanasia; Leger, Juliane; Rohrer, Tilman; Peters, Catherine; Fugazzola, Laura; Cassio, Alessandra; Heinrichs, Claudine; Beauloye, Veronique; Pohlenz, Joachim; Rodien, Patrice; Coutant, Regis; Szinnai, Gabor; Murray, Philip; Bartes, Beate; Luton, Dominique; Salerno, Mariacarolina; de Sanctis, Luisa; Vigone, Mariacristina; Krude, Heiko; Persani, Luca; Polak, Michel

Impaired iloprost-induced platelet inhibition and phosphoproteome changes in patients with confirmed pseudohypoparathyroidism type Ia, linked to genetic mutations in GNAS

SCIENTIFIC REPORTS

IF3.9

2020-07-09

OAAI

Swieringa, Frauke; Solari, Fiorella A.; Pagel, Oliver; Beck, Florian; Huang, Jingnan; Feijge, Marion A. H.; Jurk, Kerstin; Koerver-Keularts, Irene M. L. W.; Mattheij, Nadine J. A.; Faber, Joerg; Pohlenz, Joachim; Russo, Alexandra; Stumpel, Connie T. R. M.; Schrander, Dirk E.; Zieger, Barbara; van Der Meijden, Paola E. J.; Zahedi, Rene P.; Sickmann, Albert; Heemskerk, Johan W. M.

Familial Central Hypothyroidism Caused by a Novel IGSF1 Gene Mutation

THYROID

IF6.7

2016-12-01

PREAI

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

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

IF6.7

2014-06-01

OAAI

Hermanns, Pia; Shepherd, Scott; Mansor, Mohamed; Schulga, John; Jones, Jez; Donaldson, Malcolm; Pohlenz, Joachim

Diagnostic and Predictive Value of Ultrasound and Isotope Thyroid Scanning, Alone and in Combination, in Infants Referred with Thyroid-Stimulating Hormone Elevation on Newborn Screening

JOURNAL OF PEDIATRICS

IF3.5

2014-04-01

PREAI

Lucas-Herald, Angela; Jones, Jeremy; Attaie, Morag; Maroo, Sanjay; Neumann, David; Bradley, Therese; Hermanns, Pia; Pohlenz, Joachim; Donaldson, Malcolm

A New PAX8 Mutation Causing Congenital Hypothyroidism in Three Generations of a Family Is Associated with Abnormalities in the Urogenital Tract

THYROID

IF6.7

2013-09-01

PREAI

Carvalho, Ana; Hermanns, Pia; Rodrigues, Ana-Luisa; Sousa, Isabel; Anselmo, Joao; Bikker, Hennie; Cabral, Rita; Pereira-Duarte, Carlos; Mota-Vieira, Luisa; Pohlenz, Joachim

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

THYROID

IF6.7

2013-07-01

OAAI

Hermanns, Pia; Grasberger, Helmut; Cohen, Ronald; Freiberg, Clemens; Doerr, Helmuth-Guenther; Refetoff, Samuel; Pohlenz, Joachim

A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2012-06-07

OAAI

Herzog, Andreas; Hartung, Ralf; Reuser, Arnold J. J.; Hermanns, Pia; Runz, Heiko; Karabul, Nesrin; Goekce, Seyfullah; Pohlenz, Joachim; Kampmann, Christoph; Lampe, Christina; Beck, Michael; Mengel, Eugen

Minimally Invasive Follicular Thyroid Carcinoma Developed in Dyshormonogenetic Multinodular Goiter Due to Thyroid Peroxidase Gene Mutation

THYROID

IF6.7

2012-05-01

PREAI

Shacham, Elena Chertok; Ishay, Avraham; Irit, Elmalah; Pohlenz, Joachim; Tenenbaum-Rakover, Yardena

Genotype-Phenotype Correlations in Pompe Disease

CLINICAL THERAPEUTICS

IF3.6

2011-06-01

PREAI

Herzog, A.; Hartung, R.; Mengel, E.; Hermanns, P.; Runz, H.; Goekce, S.; Pohlenz, J.; Beck, M.

Mutations in the NKX2.5 Gene and the PAX8 Promoter in a Girl with Thyroid Dysgenesis

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

IF5.1

2011-06-01

OAAI

Hermanns, Pia; Grasberger, Helmut; Refetoff, Samuel; Pohlenz, Joachim

A Single Copy of the Recently Identified Dual Oxidase Maturation Factor (DUOXA) 1 Gene Produces Only Mild Transient Hypothyroidism in a Patient with a Novel Biallelic DUOXA2 Mutation and Monoallelic DUOXA1 Deletion

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

IF5.1

2011-05-01

OAAI

Hulur, Imge; Hermanns, Pia; Nestoris, Claudia; Heger, Sabine; Refetoff, Samuel; Pohlenz, Joachim; Grasberger, Helmut

Non-Immune Goiter and Hypothyroidism in a 19-Week Fetus: A Plea for Conservative Treatment

JOURNAL OF PEDIATRICS

IF3.5

2010-06-01

PREAI

Stoppa-Vaucher, Sophie; Francoeur, Diane; Grignon, Andree; Alos, Nathalie; Pohlenz, Joachim; Hermanns, Pia; Van Vliet, Guy; Deladoey, Johnny

Autonomous Thyroid Adenoma: Only an Adulthood Disease?

JOURNAL OF PEDIATRICS

IF3.5

2009-06-01

PREAI

Schwab, Karl Otfried; Pfarr, Nicole; van der Werf-Grohmann, Natascha; Pohl, Martin; Raedecke, Jochen; Musholt, Thomas; Pohlenz, Joachim

Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutation

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

IF4.3

2009-02-19

OAAI

Fuchs, Oliver; Pfarr, Nicole; Pohlenz, Joachim; Schmidt, Heinrich

Intrathyroidal Thymic Tissue Surrounding an Intrathyroidal Parathyroid Gland, the Cause of a Solitary Thyroid Nodule in a 6-Year-Old Boy

THYROID

IF6.7

2008-10-01

PREAI

Lignitz, Sarah; Musholt, Thomas J.; Kreft, Andreas; Engel, Roger; Brzezinska, Rita; Pohlenz, Joachim

Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations:: Molecular and in silico studies

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

IF5.1

2008-02-01

OAAI

Deladoeey, Johnny; Pfarr, Nicole; Vuissoz, Jean-Marc; Parma, Jasmine; Vassart, Gilbert; Biesterfeld, Stefan; Pohlenz, Joachim; Van Vliet, Guy

Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis

CLINICAL ENDOCRINOLOGY

IF2.4

2007-03-23

PREAI

Tenenbaum-Rakover, Yardena; Mamanasiri, Sunee; Ris-Stalpers, Carrie; German, Alina; Sack, Joseph; Allon-Shalev, Stavit; Pohlenz, Joachim; Refetoff, Samuel

Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene

CLINICAL ENDOCRINOLOGY

IF2.4

2006-10-20

PREAI

Pfarr, Nicole; Korsch, Eckhard; Kaspers, Stefan; Herbst, Antje; Stach, Armin; Zimmer, Claudia; Pohlenz, Joachim

Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

IF5.1

2006-07-01

OAAI

Pfarr, Nicole; Borck, Guntram; Turk, Andrew; Napiontek, Ulrike; Keilmann, Annerose; Mueller-Forell, Wibke; Kopp, Peter; Pohlenz, Joachim

研究方向