Publicações científicas
(41)
(Referências obtidas automaticamente do Web of Science e do SciELO, por meio da informação sobre o financiamento pela FAPESP e o número do processo correspondente, incluída na publicação pelos autores)
LIMA AMATO, LORENA GUIMARAES;
MONTENEGRO, LUCIANA RIBEIRO;
LERARIO, ANTONIO MARCONDES;
LIMA JORGE, ALEXANDER AUGUSTO;
GUERRA JUNIOR, GIL;
SCHNOLL, CAROLINE;
RENCK, ALESSANDRA COVALLERO;
TRARBACH, ERICKA BARBOSA;
FRADE COSTA, ELAINE MARIA;
MENDONCA, BERENICE BILHARINHO;
LATRONICO, ANA CLAUDIA;
GONTIJO SILVEIRA, LETICIA FERREIRA.
New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism.
EUROPEAN JOURNAL OF ENDOCRINOLOGY,
v. 181,
n. 2,
p. 103-119,
AUG 2019.
Citações Web of Science: 1.
FUNARI, MARIANA F. A.;
DE BARROS, JULIANA S.;
SANTANA, LUCAS S.;
LERARIO, ANTONIO M.;
FREIRE, BRUNA L.;
HOMMA, THAIS K.;
VASQUES, GABRIELA A.;
MENDONCA, BERENICE B.;
NISHI, MIRIAN Y.;
JORGE, ALEXANDER A. L.
Evaluation of SHOX defects in the era of next-generation sequencing.
Clinical Genetics,
v. 96,
n. 3
JULY 2019.
Citações Web of Science: 0.
FREIRE, BRUNA L.;
HOMMA, THAIS K.;
FUNARI, MARIANA F. A.;
LERARIO, ANTONIO M.;
VASQUES, GABRIELA A.;
MALAQUIAS, ALEXSANDRA C.;
ARNHOLD, IVO J. P.;
JORGE, ALEXANDER A. L.
Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM,
v. 104,
n. 6,
p. 2023-2030,
JUN 2019.
Citações Web of Science: 2.
NAKAGUMA, MARILENA;
CORREA, FERNANDA A.;
SANTANA, LUCAS S.;
BENEDETTI, ANNA F. F.;
PEREZ, V, RICARDO;
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.
Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR.
ENDOCRINE CONNECTIONS,
v. 8,
n. 5,
p. 590-595,
MAY 2019.
Citações Web of Science: 0.
CORREA, FERNANDA A.;
NAKAGUMA, MARILENA;
MADEIRA, JOAO L. O.;
NISHI, MIRIAN Y.;
ABRAO, MILENA G.;
JORGE, ALEXANDER A. L.;
CARVALHO, LUCIANI R.;
ARNHOLD, IVO J. P.;
MENDONCA, BERENICE B.
Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery.
ARCHIVES OF ENDOCRINOLOGY METABOLISM,
v. 63,
n. 2,
p. 167-174,
MAR-APR 2019.
Citações Web of Science: 0.
INOUE-LIMA, THAIS H.;
VASQUES, GABRIELA A.;
SCALCO, RENATA C.;
NAKAGUMA, MARILENA;
MENDONCA, BERENICE B.;
ARNHOLD, IVO J. P.;
JORGE, ALEXANDER A. L.
IGF-1 assessed by pubertal status has the best positive predictive power for GH deficiency diagnosis in peripubertal children.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM,
v. 32,
n. 2,
p. 173-179,
FEB 2019.
Citações Web of Science: 1.
VASQUES, GABRIELA A.;
ANDRADE, NATHALIA L. M.;
JORGE, ALEXANDER A. L.
Genetic causes of isolated short stature.
ARCHIVES OF ENDOCRINOLOGY METABOLISM,
v. 63,
n. 1,
p. 70-78,
JAN-FEB 2019.
Citações Web of Science: 0.
BESSA, DANIELLE S.;
MASCHIETTO, MARIANA;
AYLWIN, CARLOS FRANCISCO;
CANTON, ANA P. M.;
BRITO, VINICIUS N.;
MACEDO, DELANIE B.;
CUNHA-SILVA, MARINA;
PALHARES, HELOISA M. C.;
DE RESENDE, ELISABETE A. M. R.;
BORGES, MARIA DE FATIMA;
MENDONCA, BERENICE B.;
NETCHINE, IRENE;
KREPISCHI, ANA C. V.;
LOMNICZI, ALEJANDRO;
OJEDA, SERGIO R.;
LATRONICO, ANA CLAUDIA.
Methylome profiling of healthy and central precocious puberty girls.
CLINICAL EPIGENETICS,
v. 10,
NOV 22 2018.
Citações Web of Science: 1.
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.
Novel SUZ12 mutations in Weaver-like syndrome.
Clinical Genetics,
v. 94,
n. 5,
p. 461-466,
NOV 2018.
Citações Web of Science: 5.
LESSEL, DAVOR;
GEHBAUER, CHRISTINA;
BRAMSWIG, NURIA C.;
SCHLUTH-BOLARD, CAROLINE;
VENKATARAMANAPPA, SATHISH;
VAN GASSEN, KOEN L. I.;
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;
DE KRUIJFF, INEKE;
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.
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.
BRAIN,
v. 141,
n. 8,
p. 2299-2311,
AUG 2018.
Citações Web of Science: 4.
CUNHA-SILVA, M.;
BRITO, V. N.;
MACEDO, D. B.;
BESSA, D. S.;
RAMOS, C. O.;
LIMA, L. G.;
BARROSO, P. S.;
ARNHOLD, I. J. P.;
SEGALOFF, D. L.;
MENDONCA, B. B.;
LATRONICO, A. C.
Spontaneous fertility in a male patient with testotoxicosis despite suppression of FSH levels.
Human Reproduction,
v. 33,
n. 5,
p. 914-918,
MAY 2018.
Citações Web of Science: 1.
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.
Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes.
CLINICAL ENDOCRINOLOGY,
v. 88,
n. 3,
p. 425-431,
MAR 2018.
Citações Web of Science: 0.
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.
Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients.
EUROPEAN JOURNAL OF MEDICAL GENETICS,
v. 61,
n. 3,
p. 130-133,
MAR 2018.
Citações Web of Science: 7.
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.
IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM,
v. 103,
n. 2,
p. 604-614,
FEB 2018.
Citações Web of Science: 9.
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.
Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature.
Genetics in Medicine,
v. 20,
n. 1,
p. 91-97,
JAN 2018.
Citações Web of Science: 14.
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.
Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause.
Hormone Research in Paediatrics,
v. 89,
n. 1,
p. 13-21,
2018.
Citações Web of Science: 3.
MACEDO, DELANIE B.;
FRANCA, 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.
Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region.
Neuroendocrinology,
v. 107,
n. 2,
p. 127-132,
2018.
Citações Web of Science: 4.
CORREA, FERNANDA A.;
FRANCA, 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.
Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing.
ARCHIVES OF ENDOCRINOLOGY METABOLISM,
v. 61,
n. 6,
p. 633-636,
DEC 2017.
Citações Web of Science: 1.
LO MADEIRA, JOAO;
NISHI, MIRIAN Y.;
NAKAGUMA, MARILENA;
BENEDETTI, ANNA F.;
BISCOTTO, ISABELA PEIXOTO;
FERNANDES, THAMIRIS;
PEQUENO, THIAGO;
FIGUEIREDO, THALITA;
FRANCA, MARCELA M.;
CORREA, FERNANDA A.;
OTTO, ALINE P.;
ABRAO, MILENA;
MIRAS, MIRTA B.;
SANTOS, SILVANA;
JORGE, ALEXANDER A. L.;
COSTALONGA, EVERLAYNY F.;
MENDONCA, BERENICE B.;
ARNHOLD, IVO J. P.;
CARVALHO, LUCIANI R.
Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations.
CLINICAL ENDOCRINOLOGY,
v. 87,
n. 6,
p. 725-732,
DEC 2017.
Citações Web of Science: 4.
DAUBER, ANDREW;
CUNHA-SILVA, MARINA;
MACEDO, DELANIE B.;
BRITO, VINICIUS N.;
ABREU, ANA PAULA;
ROBERTS, STEPHANIE A.;
MONTENEGRO, LUCIANA R.;
ANDREW, MELISSA;
KIRBY, ANDREW;
WEIRAUCH, MATTHEW T.;
LABILLOY, GUILLAUME;
BESSA, DANIELLE S.;
CARROLL, RONA S.;
JACOBS, DAKOTA C.;
CHAPPELL, PATRICK E.;
MENDONCA, BERENICE B.;
HAIG, DAVID;
KAISER, URSULA B.;
LATRONICO, ANA CLAUDIA.
Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM,
v. 102,
n. 5,
p. 1557-1567,
MAY 1 2017.
Citações Web of Science: 28.
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;
PRUHOVA, STEPANKA;
ELBLOVA, LENKA;
QUINTOS, JOSE BERNARDO;
SEGERLUND, EMMA;
SENTCHORDI, LUCIA;
SHINAWI, MARWAN;
STATTIN, EVA-LENA;
SWARTZ, JONATHAN;
GONZALEZ DEL ANGEL, ARIADNA;
CUELLAR, SINHUE DIAZ;
HOSONO, HIDEKAZU;
SANCHEZ-LARA, PEDRO A.;
HWA, VIVIAN;
BARON, JEFFREY;
NILSSON, OLA;
DAUBER, ANDREW.
Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM,
v. 102,
n. 2,
p. 460-469,
FEB 1 2017.
Citações Web of Science: 24.
VASQUES, GABRIELA A.;
HISADO-OLIVA, ALFONSO;
FUNARI, MARIANA F. A.;
LERARIO, ANTONIO M.;
QUEDAS, ELISANGELA P. S.;
SOLBERG, PAULO;
HEATH, KAREN E.;
JORGE, ALEXANDER A. L.
Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM,
v. 30,
n. 1,
p. 111-116,
JAN 2017.
Citações Web of Science: 3.
BESSA, DANIELLE S.;
MACEDO, DELANIE B.;
BRITO, VINICIUS N.;
FRANCA, MONICA M.;
MONTENEGRO, LUCIANA R.;
CUNHA-SILVA, MARINA;
SILVEIRA, LETICIA G.;
HUMMEL, TIAGO;
BERGADA, IGNACIO;
BRASLAVSKY, DEBORA;
ABREU, ANA PAULA;
DAUBER, ANDREW;
MENDONCA, BERENICE B.;
KAISER, URSULA B.;
LATRONICO, ANA CLAUDIA.
High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic.
Neuroendocrinology,
v. 105,
n. 1,
p. 17-25,
2017.
Citações Web of Science: 17.
MADEIRA, JOAO L. O.;
JORGE, ALEXANDER A. L.;
MARTIN, REGINA M.;
MONTENEGRO, LUCIANA R.;
FRANCA, MARCELA M.;
COSTALONGA, EVERLAYNY F.;
CORREA, FERNANDA A.;
OTTO, ALINE P.;
ARNHOLD, IVO J. P.;
FREITAS, HELAYNE S.;
MACHADO, UBIRATAN F.;
MENDONCA, BERENICE B.;
CARVALHO, LUCIANI R.
A homozygous point mutation in the GH1 promoter (c.-223C > T) leads to reduced GH1 expression in siblings with isolated GH deficiency (IGHD).
EUROPEAN JOURNAL OF ENDOCRINOLOGY,
v. 175,
n. 2,
p. K7-K15,
AUG 2016.
Citações Web of Science: 2.
SCALCO, RENATA C.;
HWA, VIVIAN;
DOMENE, HORACIO M.;
JASPER, HECTOR G.;
BELGOROSKY, ALICIA;
MARINO, ROXANA;
PEREIRA, ALBERTO M.;
TONELLI, CARLOS A.;
WIT, JAN M.;
ROSENFELD, RON G.;
JORGE, ALEXANDER A. L.
STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability.
EUROPEAN JOURNAL OF ENDOCRINOLOGY,
v. 173,
n. 3,
p. 291-296,
SEP 2015.
Citações Web of Science: 12.
OTTO, ALINE P.;
FRANCA, MARCELA M.;
CORREA, FERNANDA A.;
COSTALONGA, EVERLAYNY F.;
LEITE, CLAUDIA C.;
MENDONCA, BERENICE B.;
ARNHOLD, IVO J. P.;
CARVALHO, LUCIANI R. S.;
JORGE, ALEXANDER A. L.
Frequent development of combined pituitary hormone deficiency in patients initially diagnosed as isolated growth hormone deficiency: a long term follow-up of patients from a single center.
Pituitary,
v. 18,
n. 4,
p. 561-567,
AUG 2015.
Citações Web of Science: 10.
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.
FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies.
ENDOCRINE CONNECTIONS,
v. 4,
n. 2,
p. 100-107,
JUN 1 2015.
Citações Web of Science: 15.
ARNHOLD, IVO J. P.;
FRANCA, MARCELA M.;
CARVALHO, LUCIANI R.;
MENDONCA, BERENICE B.;
JORGE, ALEXANDER A. L.
Role of GLI2 in hypopituitarism phenotype.
JOURNAL OF MOLECULAR ENDOCRINOLOGY,
v. 54,
n. 3,
p. R141-R150,
JUN 2015.
Citações Web of Science: 22.
PEREIRA FONTENELE, EVELINE GADELHA;
AMARAL DE MORAES, MARIA ELISABETE;
D'ALVA, CATARINA BRASIL;
PINHEIRO, DANIEL PASCOALINO;
SALES PINHEIRO LANDIM, SARA AGUIAR;
DE SOUSA BARROS, FERNANDO ANTONIO;
TRARBACH, ERICKA BARBOSA;
DE MENDONCA, BERENICE BILHARINHO;
LIMA JORGE, ALEXANDER AUGUSTO.
Association Study of GWAS-Derived Loci with Height in Brazilian Children: Importance of MAP3K3, MMP24 and IGF1R Polymorphisms for Height Variation.
Hormone Research in Paediatrics,
v. 84,
n. 4,
p. 248-253,
2015.
Citações Web of Science: 2.
LIDO, ANDRIA C. V.;
FRANCA, MARCELA M.;
CORREA, FERNANDA A.;
OTTO, ALINE P.;
CARVALHO, LUCIANI R.;
QUEDAS, ELISANGELA P. S.;
NISHI, MIRIAN Y.;
MENDONCA, BERENICE B.;
ARNHOLD, IVO J. P.;
JORGE, ALEXANDER A. L.
Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort.
GROWTH HORMONE & IGF RESEARCH,
v. 24,
n. 5,
p. 180-186,
OCT 2014.
Citações Web of Science: 1.
BRAZ, ADRIANA F.;
COSTALONGA, EVERLAYNY F.;
TRARBACH, ERICKA B.;
SCALCO, RENATA C.;
MALAQUIAS, ALEXSANDRA C.;
GUERRA-JUNIOR, GIL;
ANTONINI, SONIR R. R.;
MENDONCA, BERENICE B.;
ARNHOLD, IVO J. P.;
JORGE, ALEXANDER A. L.
Genetic Predictors of Long-Term Response to Growth Hormone (GH) Therapy in Children With GH Deficiency and Turner Syndrome: The Influence of a SOCS2 Polymorphism.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM,
v. 99,
n. 9,
p. E1808-E1813,
SEP 2014.
Citações Web of Science: 9.
CANTON, ANA P. M.;
COSTA, SILVIA S.;
RODRIGUES, TATIANE C.;
BERTOLA, DEBORA R.;
MALAQUIAS, ALEXSANDRA C.;
CORREA, FERNANDA A.;
ARNHOLD, IVO J. P.;
ROSENBERG, CARLA;
JORGE, ALEXANDER A. L.
Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways.
EUROPEAN JOURNAL OF ENDOCRINOLOGY,
v. 171,
n. 2,
p. 253-262,
AUG 2014.
Citações Web of Science: 18.
GONCALVES, FERNANDA T.;
FRIDMAN, CINTIA;
PINTO, EMILIA M.;
GUEVARA-AGUIRRE, JAIME;
SHEVAH, ORIT;
ROSEMBLOOM, ARLAN L.;
HWA, VIVIAN;
CASSORLA, FERNANDO;
ROSENFELD, RON G.;
LINS, THERESA S. S.;
DAMIANI, DURVAL;
ARNHOLD, IVO J. P.;
LARON, ZVI;
JORGE, ALEXANDER A. L.
The E180splice Mutation in the GHR Gene Causing Laron Syndrome: Witness of a Sephardic Jewish Exodus from the Iberian Peninsula to the New World?.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
v. 164,
n. 5,
p. 1204-1208,
MAY 2014.
Citações Web of Science: 9.
VASQUES, GABRIELA A.;
AMANO, NAOKO;
DOCKO, ANA J.;
FUNARI, MARIANA F. A.;
QUEDAS, ELISANGELA P. S.;
NISHI, MIRIAN Y.;
ARNHOLD, IVO J. P.;
HASEGAWA, TOMONOBU;
JORGE, ALEXANDER A. L.
Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature.
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