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Results 1-10 of 110 (Search time: 0.275 seconds).
| Issue Date | Title | Author(s) |
|---|---|---|
| 2016 | The Frequency of Pathogenic Copy Number Variants in Children with Short Stature of Unknown Etiology | CANTON, A.; HOMMA, T.; FURUYA, T.; ROELA, R.; ARNHOLD, I; JORGE, A. |
| 2017 | DEFINING THE DOSE, TYPE AND TIMING OF GLUCOCORTICOID AND MINERALOCORTICOID REPLACEMENT IN 256 CHILDREN AND ADULTS WITH CONGENITAL ADRENAL HYPERPLASIA (CAH) IN THE I-CAH REGISTRY | DANIEL, Eleni; SANDRK, Marija; BLANKENSTEIN, Oliver; NEUMANN, Uta; GRINTEN, Hedi Claahsen-Van der; LINDE, Annelieke Van der; DARENDELILER, Feyza; PYRAZOGLU, Sukran; MENDONCA, Berenice B.; BACHEGA, Tania S. S.; MIRANDA, Mirela C.; ACERINI, Carlo; GURAN, Tulay; BIRKEBAEK, Niels H.; COOLS, Martine; MILENKOVIC, Tatjana; BONFIG, Walter; TOMLINSON, Jeremy W.; AHMED, Syed Faisal; ELSEDFY, Heba; BALSAMO, Antonio; HANNEMA, Sabine E.; HIGHAM, Claire; ATAPATTU, Navoda; LICHIARDOPOL, Corina; KRONE, Ruth E.; MOHNIKE, Klaus; KRONE, Nils |
| 2017 | PATERNALLY INHERITED DLK1 DELETION AS A NOVEL CAUSE OF FAMILIAL CENTRAL PRECOCIOUS PUBERTY | DAUBER, Andrew; CUNHA-SILVA, Marina; MACEDO, Delanie; BRITO, Vinicius; ABREU, Ana Paula; ROBERTS, Stephanie; MONTENEGRO, Luciana; ANDREW, Melissa; KRIBY, Andrew; WEIRAUCH, Matthew; LABILLOY, Guillaume; BESSA, Danielle; CARROLL, Rona; JACOBS, Dakota; CHAPPELL, Patrick; MENDONCA, Berenice B.; HAIG, David; KAISER, Ursula; LATRONICO, Ana Claudia |
| 2019 | Probably Pathogenic Variants in New Candidate Genes in Patients with Pituitary Stalk Interruption Syndrome (PSIS) Revealed by Whole-Exome Sequencing | CORREA, F. A.; NAKAGUMA, M.; JORGE, A. A. L.; FUNARI, M. F. A.; LERARIO, A. M.; CARVALHO, L. R. S.; ARNHOLD, I. J. P.; MENDONCA, B. B. |
| 2019 | An Extremely Rare Novel Missense Variant p.M304V in SOX3 Gene is Responsible for an X-Linked GH Deficiency in a Brazilian Patient | BENEDETTI, A. F. F.; SILVA, J. M.; BISCOTTO, I. P.; FERREIRA, N. P.; ARNHOLD, I. J. P.; MENDONCA, B. B.; CARVALHO, L. R. S. |
| 2019 | Low Frequency of Pathogenic Allelic Variants in the 46,XY Differences of Sex Development (DSD)-Related Genes in Small for Gestational Age Children with Hypospadias | BRAGA, B. L.; GOMES, L. N.; NISHI, M. Y.; FREIRE, B. L.; BATISTA, R. L.; FUNARI, M. F. A.; COSTA, E. M. F.; LERARIO, A. M.; DOMENICE, S.; JUNIOR, J. A. D. F.; JORGE, A. A. L.; MENDONCA, B. B. |
| 2018 | A novel mutation in PROP1 c.109+1G > A identified by target gene panel in patients with congenital growth hormone deficiency | NAKAGUMA, M.; JORGE, A. A. L.; FUNARI, M. F. A.; LERARIO, A. M.; CORREA, F. A.; CARVALHO, L. R. S.; ARNHOLD, I. J. P. |
| 2019 | Clinical and Genetic Evaluation of Prepubertal Children with Short Stature and Advanced Bone Age | VASQUES, G. A.; ANDRADE, N. L. M.; FUNARI, M. F. A.; HOMMA, T. K.; FREIRE, B. L.; NISHI, M. Y.; MALAQUIAS, A. C.; MENDONCA, B. B.; ARNHOLD, I. J. P.; JORGE, A. A. L. |
| 2013 | Mutation in the Ligand-Binding Domain of the Vitamin D Receptor (VDR) in a Patient with Spontaneous Recovery of Hereditary Vitamin D-Resistant Rickets (HVDRR) | DAMIANI, Flavia M.; MARTIN, Regina M.; LATRONICO, Ana Claudia; CORREA, Pedro Henrique; FERRAZ-DE-SOUZA, Bruno |
| 2019 | Long-Term Outcome In Leydig Cell Hypoplasia | BONCOMPAGNI, Alessandra; BRYCE, Jillian; LUCACCIONI, Laura; IUGHETTI, Lorenzo; ACERINI, Carlo; CUCCARO, Rieko T.; BERTELLONI, Silvano; HANNEMA, Sabine E.; DARENDELILER, F. Feyza; POYRAZOGLU, Sukran; DENZER, Friederike; BATISTA, Rafael L.; DOMENICE, Sorahia; LATRONICO, Ana C.; MENDONCA, Berenice B.; REY, Rodolfo; AHMED, S. Faisal |