Anthropometric evaluation of children with SHOX mutations can be used as indication for genetic studies in children of short stature

Por Jorge, Alexander A L, Arnhold, Ivo J P
Publicado em 2007

Frequency of genetic polymorphisms of PXR gene in the Brazilian population

Por Moreira, Ricardo P P, Jorge, Alexander A L, Mendonca, Berenice B, Bachega, Tânia A S S
Publicado em 2011

Pharmacogenetics of glucocorticoid replacement could optimize the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Por Moreira, Ricardo P. P., Jorge, Alexander A. L., Gomes, Larissa G., Kaupert, Laura C., Filho, João Massud, Mendonca, Berenice B., Bachega, Tânia A. S. S.
Publicado em 2011

Effectiveness of the Combined Recombinant Human Growth Hormone and Gonadotropin-Releasing Hormone Analog Therapy in Pubertal Patients with Short Stature due to SHOX Deficiency

Por Scalco, Renata C., Melo, Suzana S. J., Pugliese-Pires, Patricia N., Funari, Mariana F. A., Nishi, Mirian Y., Arnhold, Ivo J. P., Mendonca, Berenice B., Jorge, Alexander A. L.
Publicado em 2010

Two Patients with Severe Short Stature due to a FBN1 mutation (p.Ala1728Val) with a mild form of Acromicric Dysplasia

Por de Bruin, Christiaan, Finlayson, Courtney, Funari, Mariana F.A., Vasques, Gabriela A., Freire, Bruna Lucheze, Lerario, Antonio M., Andrew, Melissa, Hwa, Vivian, Dauber, Andrew, Jorge, Alexander A L
Publicado no Horm Res Paediatr (2016)

Tegumentary manifestations of Noonan and Noonan-related syndromes

Por Quaio, Caio Robledo D'Angioli Costa, de Almeida, Tatiana Ferreira, Brasil, Amanda Salem, Pereira, Alexandre C., Jorge, Alexander A. L., Malaquias, Alexsandra C., Kim, Chong Ae, Bertola, Débora Romeo
Publicado em 2013

STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability

Por Scalco, Renata C, Hwa, Vivian, Domené, Horacio M., Jasper, Héctor G., Belgorosky, Alicia, Marino, Roxana, Pereira, Alberto M., Tonelli, Carlos A., Wit, Jan M., Rosenfeld, Ron G., Jorge, Alexander A.L.
Publicado no Eur J Endocrinol (2015)

Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect

Por Scalco, Renata C., Gonçalves, Fernanda T., Santos, Hadassa C., Cardena, Mari M. S. G., Tonelli, Carlos A., Funari, Mariana F. A., Aracava, Rosana M., Pereira, Alexandre C., Fridman, Cintia, Jorge, Alexander A. L.
Publicado no Genet Mol Biol (2017)

Mutational Analysis of TAC3 and TACR3 Genes in Patients with Idiopathic Central Pubertal Disorders

Por Tusset, Cintia, Noel, Sekoni D., Trarbach, Ericka B., Silveira, Letícia F. G., Jorge, Alexander A. L., Brito, Vinicius N., Cukier, Priscila, Seminara, Stephanie B., de Mendonça, Berenice B., Kaiser, Ursula B., Latronico, Ana Claudia
Publicado em 2012

Insulin-like growth factor 1 gene (CA)n repeats and a variable number of tandem repeats of the insulin gene in Brazilian children born small for gestational age

Por Coletta, Rocio R D, Jorge, Alexander A L, D' Alva, Catarina Brasil, Pinto, Emília M, Billerbeck, Ana Elisa C, Pachi, Paulo R, Longui, Carlos A, Garcia, Ricardo M, Boguszewski, Margaret, Arnhold, Ivo J P, Mendonca, Berenice B, Costa, Elaine M F
Publicado em 2013

Role of GnRH receptor mutations in patients with a wide spectrum of pubertal delay

Por Beneduzzi, Daiane, Trarbach, Ericka B., Min, Le, Jorge, Alexander A. L., Garmes, Heraldo M., Renk, Alessandra Covallero, Fichna, Marta, Fichna, Piotr, Arantes, Karina A., Costa, Elaine M. F., Zhang, Anna, Adeola, Oluwaseun, Wen, Junping, Carroll, Rona S., Mendonça, Berenice B., Kaiser, Ursula B., Latronico, Ana Claudia, Silveira, Letícia F. G.
Publicado em 2014

FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies

Por Correa, Fernanda A, Trarbach, Ericka B, Tusset, Cintia, Latronico, Ana Claudia, Montenegro, Luciana R, Carvalho, Luciani R, Franca, Marcela M, Otto, Aline P, Costalonga, Everlayny F, Brito, Vinicius N, Abreu, Ana Paula, Nishi, Mirian Y, Jorge, Alexander A L, Arnhold, Ivo J P, Sidis, Yisrael, Pitteloud, Nelly, Mendonca, Berenice B
Publicado no Endocr Connect (2015)

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations

Por Gkourogianni, Alexandra, Andrew, Melissa, Tyzinski, Leah, Crocker, Melissa, Douglas, Jessica, Dunbar, Nancy, Fairchild, Jan, Funari, Mariana F. A., Heath, Karen E., Jorge, Alexander A. L., Kurtzman, Tracey, LaFranchi, Stephen, Lalani, Seema, Lebl, Jan, Lin, Yuezhen, Los, Evan, Newbern, Dorothee, Nowak, Catherine, Olson, Micah, Popovic, Jadranka, Průhová, Štěpánka, Elblova, Lenka, Quintos, Jose Bernardo, Segerlund, Emma, Sentchordi, Lucia, Shinawi, Marwan, Stattin, Eva-Lena, Swartz, Jonathan, del Angel, Ariadna González, Cuéllar, Sinhué Diaz, Hosono, Hidekazu, Sanchez-Lara, Pedro A., Hwa, Vivian, Baron, Jeffrey, Nilsson, Ola, Dauber, Andrew
Publicado no J Clin Endocrinol Metab (2016)