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| Issue Date | Title | Author(s) |
|---|---|---|
| 2018 | Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region | MACEDO, Delanie B.; FRANCA, Monica M.; MONTENEGRO, Luciana R.; CUNHA-SILVA, Marina; BESSA, Danielle S.; ABREU, Ana Paula; KAISER, Ursula B.; MENDONCA, Berenice B.; JORGE, Alexander A. L.; BRITO, Vinicius N.; LATRONICO, Ana Claudia |
| 2018 | Novel SUZ12 mutations in Weaver-like syndrome | IMAGAWA, Eri; ALBUQUERQUE, Edoarda V. A.; ISIDOR, Bertrand; MITSUHASHI, Satomi; MIZUGUCHI, Takeshi; MIYATAKE, Satoko; TAKATA, Atsushi; MIYAKE, Noriko; BOGUSZEWSKI, Margaret C. S.; BOGUSZEWSKI, Cesar L.; LERARIO, Antonio M.; FUNARI, Mariana A.; JORGE, Alexander A. L.; MATSUMOTO, Naomichi |
| 2018 | Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients | FREIRE, Bruna L.; HOMMA, Thais K.; FUNARI, Mariana F. A.; LERARIO, Antonio M.; LEAL, Aline M.; VELLOSO, Elvira D. R. P.; MALAQUIAS, Alexsandra C.; JORGE, Alexander A. L. |
| 2018 | Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause | HOMMA, Thais K.; KREPISCHI, Ana C. V.; FURUYA, Tatiane K.; HONJO, Rachel S.; MALAQUIAS, Alexsandra C.; BERTOLA, Debora R.; COSTA, Silvia S.; CANTON, Ana P.; ROELA, Rosimeire A.; FREIRE, Bruna L.; KIM, Chong A.; ROSENBERG, Carla; JORGE, Alexander A. L. |
| 2018 | IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy | VASQUES, Gabriela A.; FUNARI, Mariana F. A.; FERREIRA, Frederico M.; AZA-CARMONA, Miriam; SENTCHORDI-MONTANE, Lucia; BARRAZA-GARCIA, Jimena; LERARIO, Antonio M.; YAMAMOTO, Guilherme L.; NASLAVSKY, Michel S.; DUARTE, Yeda A. O.; BERTOLA, Debora R.; HEATH, Karen E.; JORGE, Alexander A. L. |
| 2018 | Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature | HISADO-OLIVA, Alfonso; RUZAFA-MARTIN, Alba; SENTCHORDI, Lucia; FUNARI, Mariana F. A.; BEZANILLA-LOPEZ, Carolina; ALONSO-BERNALDEZ, Marta; BARRAZA-GARCIA, Jimena; RODRIGUEZ-ZABALA, Maria; LERARIO, Antonio M.; BENITO-SANZ, Sara; AZA-CARMONA, Miriam; CAMPOS-BARROS, Angel; JORGE, Alexander A. L.; HEATH, Karen E. |
| 2018 | Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes | CORREA, Fernanda A.; JORGE, Alexander A. L.; NAKAGUMA, Marilena; CANTON, Ana P. M.; COSTA, Silvia S.; FUNARI, Mariana F.; LERARIO, Antonio M.; FRANCA, Marcela M.; CARVALHO, Luciani R.; KREPISCHI, Ana C. V.; ARNHOLD, Ivo J. P.; ROSENBERG, Carla; MENDONCA, Berenice B. |
| 2018 | BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells | LESSEL, Davor; GEHBAUER, Christina; BRAMSWIG, Nuria C.; SCHLUTH-BOLARD, Caroline; VENKATARAMANAPPA, Sathish; GASSEN, Koen L. I. van; HEMPEL, Maja; HAACK, Tobias B.; BARESIC, Anja; GENETTI, Casie A.; FUNARI, Mariana F. A.; LESSEL, Ivana; KUHLMANN, Leonie; SIMON, Ruth; LIU, Pentao; DENECKE, Jonas; KUECHLER, Alma; KRUIJFF, Ineke de; SHOUKIER, Moneef; LEK, Monkol; MULLEN, Thomas; LUEDECKE, Hermann-Josef; LERARIO, Antonio M.; KOBBE, Robin; KRIEGER, Thorsten; DEMEER, Benedicte; LEBRUN, Marine; KEREN, Boris; NAVA, Caroline; BURATTI, Julien; AFENJAR, Alexandra; SHINAWI, Marwan; SACOTO, Maria J. Guillen; GAUTHIER, Julie; HAMDAN, Fadi F.; LABERGE, Anne-Marie; CAMPEAU, Philippe M.; LOUIE, Raymond J.; CATHEY, Sara S.; PRINZ, Immo; JORGE, Alexander A. L.; TERHAL, Paulien A.; LENHARD, Boris; WIECZOREK, Dagmar; STROM, Tim M.; AGRAWAL, Pankaj B.; BRITSCH, Stefan; TOLOSA, Eva; KUBISCH, Christian |
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