ey0015.7-11 | New genes in hypogonadotropic hypogonadism | ESPEYB15
7.11 KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism
C Xu , A Messina , E Somm , H Miraoui , T Kinnunen , J Acierno , NJ Niederländer , J Bouilly , AA Dwyer , Y Sidis , D Cassatella , GP Sykiotis , R Quinton , C De Geyter , M Dirlewanger , V Schwitzgebel , TR Cole , AA Toogood , JM Kirk , L Plummer , U Albrecht , WF Crowley , M Mohammadi , M Tena-Sempere , V Prevot , N Pitteloud
ey0018.3-4 | Thyroid development | ESPEYB18
3.4. Single-cell transcriptome analysis reveals thyrocyte diversity in the zebrafish thyroid gland
P Gillotay , M Shankar , B Haerlingen , E Sema Elif , M Pozo-Morales , I Garteizgogeascoa , S Reinhardt , A Krankel , J Blasche , A Petzold , N Ninov , G Kesavan , C Lange , M Brand , A Lefort , F Libert , V Detours , S Costagliola , S Sumeet Pal
ey0018.4-12 | New Perspectives | ESPEYB18
4.12. DNA methylation profiling and genomic analysis in 20 children with short stature who were born small for gestational age
S Peeters , K Declerck , M Thomas , E Boudin , D Beckers , O Chivu , C Heinrichs , K Devriendt , F de Zegher , Hul Van , Vanden Wim , V Berghe , J De Schepper , R Rooman , G Mortier
ey0018.6-4 | Basic and Genetic Research of DSD | ESPEYB18
6.4. COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development.
H Mandel , N Cohen Kfir , A Fedida , E Shuster Biton , M Odeh , L Kalfon , S Ben- Harouch , V Fleischer Sheffer , Y Hoffman , Y Goldberg , A Dinwiddie , E Dumin , A Eran , L Apel-Sarid , D Tiosano , TC Falik-Zaccai
ey0018.11-3 | New hope: Increased diagnostic yield for disease causing MC4R variants and pharmacological treatment options | ESPEYB18
11.3. Human MC4R variants affect endocytosis, trafficking and dimerization revealing multiple cellular mechanisms involved in weight regulation
B Brouwers , EM de Oliveira , M Marti-Solano , FBF Monteiro , SA Laurin , JM Keogh , E Henning , R Bounds , CA Daly , S Houston , V Ayinampudi , N Wasiluk , D Clarke , B Plouffe , M Bouvier , MM Babu , IS Farooqi , J Mokrosiński
ey0018.14-8 | (1) | ESPEYB18
14.8. Mesenchyme-derived IGF2 is a major paracrine regulator of pancreatic growth and function
Hammerle Constanze M , Sandovici Ionel , Brierley Gemma V , Smith Nicola M , Zimmer Warren E , Zvetkova Ilona , Prosser Haydn M , Sekita Yoichi , Lam Brian YH , Ma Marcella , Cooper Wendy N , Vidal-Puig Antonio , Ozanne Susan E , Medina-Gomez Gema , Constancia Miguel
ey0019.2-5 | Neonatal hypoglycaemia | ESPEYB19
2.5. PNC2 (SLC25A36) deficiency associated with the hyperinsulinism/hyperammonemia syndrome
MA Shahrour , FM Lasorsa , V Porcelli , I Dweikat , MA Di Noia , M Gur , G Agostino , A Shaag , T Rinaldi , G Gasparre , F Guerra , A Castegna , S Todisco , B Abu-Libdeh , O Elpeleg , L Palmieri
ey0019.3-7 | Congenital hypothyroidism | ESPEYB19
3.7. Treatment of congenital hypothyroidism: comparison between L-thyroxine oral solution and tablet formulations up to 3 years of age
MC Vigone , R Ortolano , G Vincenzi , C Pozzi , M Ratti , V Assirelli , S Vissani , P Cavarzere , A Mussa , R Gastaldi , Mase R Di , M Salerno , ME Street , J Trombatore , G Weber , A Cassio
ey0019.9-11 | Fertility issues and reproductive outcomes in childhood cancer survivors | ESPEYB19
9.11. Assessment of the architecture and integrity of frozen-thawed testicular tissue from (pre)pubertal boys with cancer
Rives-Feraille A. , Liard A. , Bubenheim M. , Barbotin A.L. , Giscard d'Estaing S. , Mirallie S. , Ancelle A. , Roux C. , Brugnon F. , Greze V. , Daudin M. , Willson-Plat G. , Dubois R. , Sibert L. , Schneider P. , Rives N.
ey0019.11-5 | New findings in adipose tissue biology | ESPEYB19
11.5. Insulin directly regulates the circadian clock in adipose tissue
N Tuvia , O Pivovarova-Ramich , V Murahovschi , S Luck , A Grudziecki , AC Ost , M Kruse , VJ Nikiforova , M Osterhoff , P Gottmann , O Gogebakan , C Sticht , N Gretz , M Schupp , A Schurmann , N Rudovich , AFH Pfeiffer , A Kramer
ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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