P. Hanna

发表

Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

O. Mäkitie, L. Rejnmark, M. Zillikens, 2020, Hormone Research in Paediatrics.

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

O. Mäkitie, L. Rejnmark, M. Zillikens, 2018, Nature Reviews Endocrinology.

Familial visceral neuropathy with autosomal dominant transmission.

J. Rotter, E. Mayer, M. D. Schuffler, 1986, Gastroenterology.

Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients HORMONERESEARCH IN PÆDIATRIC S

O. Mäkitie, R. Pignolo, H. Jüppner, 2020 .

Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients.

A. Rothenbuhler, A. Linglart, D. Ertl, 2020, European journal of endocrinology.

Targeted Long‐Read Sequencing Identifies a Retrotransposon Insertion as a Cause of Altered GNAS Exon A/B Methylation in a Family With Autosomal Dominant Pseudohypoparathyroidism Type 1b (PHP1B)

E. Eichler, H. Jüppner, A. Linglart, 2022, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

A novel familial PHP1B variant with incomplete loss-of-methylation at GNAS-A/B and enhanced methylation at GNAS-AS2.

H. Jüppner, B. Delemer, A. Linglart, 2021, The Journal of clinical endocrinology and metabolism.

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network.

A. Barlier, O. Hiort, K. Freson, 2016, European journal of endocrinology.

The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network.

A. Linglart, G. Perez de Nanclares, V. Grybek, 2016, The Journal of clinical endocrinology and metabolism.

Progression of PTH-resistance in autosomal dominant pseudohypoparathyroidism type Ib due to maternal STX16 deletions.

H. Jüppner, Anu Sharma, T. Declue, 2021, The Journal of clinical endocrinology and metabolism.

Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early‐Onset Obesity

H. Jüppner, Ashley H. Shoemaker, A. Rothenbuhler, 2018, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Adrenal GIPR expression and chromosome 19q13 microduplications in GIP-dependent Cushing's syndrome.

P. Chanson, A. Tabarin, F. Faucz, 2017, JCI insight.

From pseudohypoparathyroidism to inactivating PTH/PTHrP signaling disorder (iPPSD), a novel classification proposed by the European EuroPHP-network

A. Barlier, O. Hiort, K. Freson, 2016 .

Genetic and epigenetic defects at the GNAS locus lead to distinct patterns of skeletal growth but similar early-onset obesity† Short title: Distinct patterns of fetal and post-natal growth in GNAS-related disorders

H. Jüppner, A. Rothenbuhler, A. Linglart, 2018 .

Pseudohypoparathyroidism type 1B (PHP1B), a rare disorder encountered in adolescence

E. Anagnostou, K. Karavanaki, M. Tsolia, 2020, Journal of pediatric endocrinology & metabolism : JPEM.

Substantially Delayed Maturation of Growth Plate Chondrocytes in “Humanized” PTH1R Mice with the H223R Mutation of Jansen's Disease

H. Jüppner, T. Gardella, E. Schipani, 2023, JBMR plus.