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

מאת Jorge, Alexander A L, Arnhold, Ivo J P
יצא לאור 2007

Frequency of genetic polymorphisms of PXR gene in the Brazilian population

מאת Moreira, Ricardo P P, Jorge, Alexander A L, Mendonca, Berenice B, Bachega, Tânia A S S
יצא לאור 2011

Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development

מאת Montenegro, Luciana R., Lerário, Antônio M., Nishi, Miriam Y., Jorge, Alexander A.L., Mendonca, Berenice B.
הוצא לאור ב Clinics (Sao Paulo) (2021)

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

מאת 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.
יצא לאור 2011

SAT-107 Improved Adult Height in Brazilian Turner Syndrome Patients Treated with Growth Hormone

מאת Scalco, Renata Da Cunha, Braz, Adriana Farrant, Malaquias, Alexsandra C, Antonini, Sonir Roberto Rauber, Guerra-Junior, Gil, Mendonca, Berenice Bilharinho, Jorge, Alexander A L
הוצא לאור ב J Endocr Soc (2020)

Response to Letter to the Editor: “A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness”

מאת Hirschhorn, Joel N, Dauber, Andrew, Audi, Laura, Vedantam, Sailaja, Ranke, Michael B, Jorge, Alexander A L, Lindberg, Anders, Camacho-Hübner, Cecilia, Wajnrajch, Michael P
הוצא לאור ב J Clin Endocrinol Metab (2020)

ESR1 polymorphism (rs2234693) influences femoral bone mass in patients with Turner syndrome

מאת Scalco, Renata C, Trarbach, Ericka B, Albuquerque, Edoarda V A, Homma, Thais K, Inoue-Lima, Thais H, Nishi, Mirian Y, Mendonca, Berenice B, Jorge, Alexander A L
הוצא לאור ב Endocr Connect (2019)

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

מאת 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.
יצא לאור 2010

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

מאת 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
הוצא לאור ב Horm Res Paediatr (2016)

Tegumentary manifestations of Noonan and Noonan-related syndromes

מאת 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
יצא לאור 2013

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

מאת 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.
הוצא לאור ב 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

מאת 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.
הוצא לאור ב Genet Mol Biol (2017)

Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region

מאת Macedo, Delanie B., França, Monica M., Montenegro, Luciana R., Cunha-Silva, Marina, Best, Danielle S., Abreu, Ana Paula, Kaiser, Ursula B., Mendonca, Berenice B., Jorge, Alexander A.L., Brito, Vinicius N., Latronico, Ana Claudia
הוצא לאור ב Neuroendocrinology (2018)

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

מאת 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
יצא לאור 2012

Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency

מאת Franca, Monica M, Han, Xingfa, Funari, Mariana F A, Lerario, Antonio M, Nishi, Mirian Y, Fontenele, Eveline G P, Domenice, Sorahia, Jorge, Alexander A L, Garcia-Galiano, David, Elias, Carol F, Mendonca, Berenice B
הוצא לאור ב J Clin Endocrinol Metab (2019)

A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness

מאת Dauber, Andrew, Meng, Yan, Audi, Laura, Vedantam, Sailaja, Weaver, Benjamin, Carrascosa, Antonio, Albertsson-Wikland, Kerstin, Ranke, Michael B, Jorge, Alexander A L, Cara, Jose, Wajnrajch, Michael P, Lindberg, Anders, Camacho-Hübner, Cecilia, Hirschhorn, Joel N
הוצא לאור ב J Clin Endocrinol Metab (2020)

Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing

מאת Correa, Fernanda A., França, Marcela M., Fang, Qing, Ma, Qianyi, Bachega, Tania A., Rodrigues, Andresa, Ozel, Bilge A., Li, Jun Z., Mendonca, Berenice B., Jorge, Alexander A. L., Carvalho, Luciani R., Camper, Sally A., Arnhold, Ivo J. P
הוצא לאור ב Arch Endocrinol Metab (2017)

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

מאת 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
יצא לאור 2013

Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR

מאת Nakaguma, Marilena, Correa, Fernanda A, Santana, Lucas S, Benedetti, Anna F F, Perez, Ricardo V, Huayllas, Martha K P, Miras, Mirta B, Funari, Mariana F A, Lerario, Antonio M, Mendonca, Berenice B, Carvalho, Luciani R S, Jorge, Alexander A L, Arnhold, Ivo J P
הוצא לאור ב Endocr Connect (2019)

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

מאת 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.
יצא לאור 2014