Joachim Pohlenz
Hirschhorn, RP, Germany
Last Updated: 09/26/2026
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Found 20 publications
Recurrence of an Immature Thyroid Infiltrating Teratoma in a Female Infant.
Journal: European journal of pediatric surgery reports
Published: May 29, 2025
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.
Journal: Thyroid : official journal of the American Thyroid Association
Published: December 04, 2020
A Novel Homozygous Mutation in the Solute Carrier Family 26 Member 7 Gene Causes Thyroid Dyshormonogenesis in a Girl with Congenital Hypothyroidism.
Journal: Thyroid : official journal of the American Thyroid Association
Published: June 04, 2020
Determination of thyroid volume in infants with suspected congenital hypothyroidism-the limitations of both subjective and objective evaluation.
Journal: BJR open
Published: February 10, 2020
Impaired iloprost-induced platelet inhibition and phosphoproteome changes in patients with confirmed pseudohypoparathyroidism type Ia, linked to genetic mutations in GNAS.
Journal: Scientific reports
Published: February 07, 2020
Thyroid surgery in children and young adults: potential overtreatment and complications.
Journal: Langenbeck's archives of surgery
Published: December 28, 2019
Identification of Transient Receptor Potential Channel 4-Associated Protein as a Novel Candidate Gene Causing Congenital Primary Hypothyroidism.
Journal: Hormone research in paediatrics
Published: September 10, 2019
Novel Mutations in the NKX2.1 gene and the PAX8 gene in a Boy with Brain-Lung-Thyroid Syndrome.
Journal: Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association
Published: September 28, 2017
A further case of brain-lung-thyroid syndrome with deletion proximal to NKX2-1.
Journal: European journal of medical genetics
Published: November 04, 2016
Familial Central Hypothyroidism Caused by a Novel IGSF1 Gene Mutation.
Journal: Thyroid : official journal of the American Thyroid Association
Published: June 17, 2016
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.
Journal: Thyroid : official journal of the American Thyroid Association
Published: February 07, 2014
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.
Journal: Hormone research in paediatrics
Published: January 13, 2014
Last Updated: 09/26/2026