Results 21 to 30 of about 3,689 (193)

7931 WBP11 as a Novel Candidate Gene for Congenital Hypopituitarism [PDF]

J Endocr Soc
Fernanda A. Correa, Alexia Boizot, Z Kolesinska, Imen Habibi, Jiayu Zhai, Yassine Zouaghi, Franziska Phan-Hug, D l'Allemands, Μαρία Αντωνίου, Duarte Pignatelli, Mariarosaria Lang‐Muritano, Marek Niedziela, Georgios Papadakis, Adelina Ameti, Nicolas J. Niederländer, James S. Acierno, Gaëtan Ternier, Paolo Giacobini, Federico Santoni, Andrea Messina, Nelly Pitteloud   +20 more
europepmc   +3 more sources

NBPF9 Gene May Be Involved in Congenital Hypopituitarism: A Whole-Genome Study of a Boy with Pituitary Stalk Interruption Syndrome and His Family. [PDF]

Int J Endocrinol, 2020
Wang CZ, Guo LL, Guo QH, Mu YM.
europepmc   +3 more sources

7389 Novel Candidate Genes for Congenital Hypopituitarism Revealed by Whole Exome Sequencing [PDF]

J Endocr Soc
Julián Jorge Martínez Mayer, Sebastián Vishnopolska, Perticarari Catalina, Lucía Iglesias García, Martina Hackbartt, A Alvarado, Marcela Martı́nez, Jonathan Zaiat, Débora Braslavsky, Ana Keselman, Ignacio Bergadá, Roxana Marino, Natacia Perez Garrido, Marta Ciaccio, María Isabel Di Palma, Alicia Belgorosky, María Verónica Forclaz, Maria Gabriela Benzrihen, S. Damato, Gabriela Patricia Rojas, Mirta Miras, Guillermo Francisco Alonso, Alejandra Paez Nuñez, Laura Cecilia Castro, Susana Mallea Gil, Carolina Ballarino, Laura Viviana Latorre Villacorta, Verónica Figueroa, Analía Morín, Zelmira Guntsche, Hane Lee, Eugene Lee, Yongjun Song, Marcelo A. Martí, María Inés Pérez‐Millán   +34 more
europepmc   +3 more sources

PMON35 An Unusual Case of Sporadic Congenital Hypopituitarism Presenting With Micropenis and Infantile Adrenal Crisis [PDF]

J Endocr Soc, 2022
Brian S. Wojeck, Patricia R. Peter
europepmc   +3 more sources

THU119 Screening Publicly Available Data To Identify Candidate Genes For Congenital Hypopituitarism [PDF]

J Endocr Soc, 2023
Michelle L. Brinkmeier, Julián Jorge Martínez Mayer, Buffy S. Ellsworth, Lori T. Raetzman, Leonard Cheung, María Inés Pérez‐Millán, Sally A. Camper, Shannon W. Davis   +7 more
europepmc   +3 more sources

Congenital hypopituitarism in children. Molecular-genetic characteristics

HERALD of North-Western State Medical University named after I.I. Mechnikov, 2018
In connection with the ambiguity in the interpretation of the results of stimulation tests in congenital hypopituitarism, children need to search for molecular genetic markers of the disease. Molecular genetic analysis in patients with congenital hypopituitarism (genes GH1, GHRH, GHRHR,BTK, GHSR, PROP1, POU1F1, HESX1, LHX3, LHX4, SOX3, SOX2, OTX2, GLI2,
Olga Berseneva, Аndrey S. Glotov, Oleg S. Glotov, Elena Serebryakova, Т. Е. Ivashenko, Mariia E. Turkunova, Elena Bashnina, В. С. Баранов   +7 more
openalex   +3 more sources

Prolonged neonatal hyperbilirubinaemia in a case of congenital hypopituitarism. [PDF]

BMJ Case Rep, 2019
Bhattacharya D, Kumar R, Dayal D.
europepmc   +3 more sources

Adult Cirrhosis Due to Untreated Congenital Hypopituitarism [PDF]

Journal of the Royal Society of Medicine, 2005
Aye Nyunt, Narinder Kochar, Daniella T Pilz, J G Kingham, M K Jones   +4 more
openalex   +3 more sources

SAT-023 Recessive truncations in CCDC149, a previously uncharacterized gene, are a novel cause of Congenital Hypopituitarism. [PDF]

J Endocr Soc
Louise Gregory, Shoshana Rath, Hanna Mandel, Ghadir Elias-Assad, Nadra Naser Samra, Michael Parker, Paul Dimitri, Naresh K. Hanchate, Mehul Dattani   +8 more
europepmc   +3 more sources

Slipped capital femoral epiphysis in an adult with congenital hypopituitarism: A case report. [PDF]

Medicine (Baltimore), 2019
Huang YF, Wang LS, Zhang S, Gao YH, Liu JG, Qi X.   +5 more
europepmc   +2 more sources