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New approaches and methodologies in molecular-genetic studies of growth and pubertal development disorders

Abstract

Disorders of growth and pubertal development in humans are under a strong genetic influence, including models of classic mendelian inheritance, as well as oligogenic and polygenic inheritance. New genetic tools have been recently developed, allowing simultaneous investigation of different genes and, in some cases, screening of the complete genome, in diseases with a genetic basis. The primary aim of this project is to develop and apply new molecular technologies in the investigation of disorders of growth and pubertal development. The project is divided in 2 modules, including 8 subprojects in total. The following developmental disorders will be studied: central precocious puberty, isolated hypogonadotropic hypogonadism, hypopituitarism, short stature associated with low weight and/or stature for gestational age and idiopathic short stature. In all of these conditions there are clear evidences of a strong genetic component involving genes yet to be revealed. The use of these new tools will allow an important advancement in the diagnosis, follow up and treatment of affected patients. The Endocrinology Development Unit of "Hospital das Clínicas" of São Paulo University is a national reference center for disorders of growth and development. Well established cohorts are already organized for each of the included conditions, allowing the rapid initiation of the studies. The research strategy will be to add new technologies to the traditional approach of candidate gene-sequencing, such as comparative genomic hybridization array for submicroscopic deletions or duplications screening, followed by new generation sequencing of specific target regions or exomic sequencing in selected cases (families with classic Mendelian pattern of inheritance or consanguineous families). After analysis of the preliminary data, new genes will be investigated in the entire cohort. With this approach we intend to develop new methodologies in order to identify new genes and physiologic pathways involved in the etiopathogenesis of the studied conditions and to form well trained researches in these new platforms. The proposed project is very important for its innovative character, advancement in the study of monogenic diseases and in the genotype-phenotype characterization. (AU)

Articles published in Pesquisa FAPESP Magazine about the research grant:
Más mutaciones asociadas a la baja estatura 
New mutations linked to short stature 
Una inmersión en las enfermedades genéticas 
Articles published in Agência FAPESP Newsletter about the research grant:
Articles published in other media outlets (0 total):
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Scientific publications (50)
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
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.; et al. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. BRAIN, v. 141, n. 8, p. 2299-2311, . (13/03236-5, 13/02162-8)
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.; et al. Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause. Hormone Research in Paediatrics, v. 89, n. 1, p. 13-21, . (13/08028-1, 13/03236-5, 09/00898-1, 15/26980-7)
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, . (13/03236-5)
LIMA AMATO, LORENA GUIMARAES; LATRONICO, ANA CLAUDIA; GONTIJO SILVEIRA, LETICIA FERREIRA. Molecular and Genetic Aspects of Congenital Isolated Hypogonadotropic Hypogonadism. ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA, v. 46, n. 2, p. 283+, . (13/03236-5)
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; et al. High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic. Neuroendocrinology, v. 105, n. 1, p. 17-25, . (13/03236-5, 13/06391-1)
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.; et al. Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 102, n. 5, p. 1557-1567, . (13/03236-5, 13/06391-1)
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.; et al. 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, . (13/03236-5, 13/02162-8)
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, . (13/03236-5)
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.; et al. 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, . (13/03236-5, 15/26563-7, 13/02162-8)
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.; et al. Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region. Neuroendocrinology, v. 107, n. 2, p. 127-132, . (13/03236-5, 13/06391-1)
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, . (13/03236-5)
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.; et al. FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies. ENDOCRINE CONNECTIONS, v. 4, n. 2, p. 100-107, . (13/03236-5)
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.; et al. Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes. CLINICAL ENDOCRINOLOGY, v. 88, n. 3, p. 425-431, . (15/26563-7, 13/03236-5, 13/02162-8)
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.; et al. 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, . (13/03236-5)
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, . (13/03236-5)
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, . (13/03236-5, 05/04726-0)
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.; et al. 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, . (13/03236-5)
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; et al. Methylome profiling of healthy and central precocious puberty girls. CLINICAL EPIGENETICS, v. 10, . (13/03236-5, 15/06281-7)
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.; et al. Spontaneous fertility in a male patient with testotoxicosis despite suppression of FSH levels. Human Reproduction, v. 33, n. 5, p. 914-918, . (13/03236-5)
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.; et al. 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, . (15/26563-7, 13/03236-5)
HOMMA, THAIS KATAOKA; FREIRE, BRUNA LUCHEZE; HONJO KAWAHIRA, RACHEL SAYURI; DAUBER, ANDREW; DE ASSIS FUNARI, MARIANA FERREIRA; LERARIO, ANTONIO MARCONDES; NISHI, MIRIAN YUMIE; DE ALBUQUERQUE, EDOARDA VASCO; VASQUES, GABRIELA DE ANDRADE; COLLETT-SOLBERG, PAULO FERREZ; et al. Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing. JOURNAL OF PEDIATRICS, v. 215, p. 192-198, . (13/03236-5, 15/26980-7)
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.. ESR1 polymorphism (rs2234693) influences femoral bone mass in patients with Turner syndrome. ENDOCRINE CONNECTIONS, v. 8, n. 11, p. 1513-1519, . (13/03236-5, 16/03318-0)
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; et al. New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism. EUROPEAN JOURNAL OF ENDOCRINOLOGY, v. 181, n. 2, p. 103-119, . (13/03236-5)
NAKAGUMA, MARILENA; JORGE, ALEXANDER A. L.; ARNHOLD, IVO J. P.. Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants. Genetics in Medicine, v. 21, n. 1, p. 260, . (13/03236-5, 13/02162-8, 15/26563-7)
GABRIELA A. VASQUES; NATHALIA L. M. ANDRADE; FERNANDA A. CORREA; ALEXANDER A. L. JORGE. Update on new GH-IGF axis genetic defects. ARCHIVES OF ENDOCRINOLOGY METABOLISM, v. 63, n. 6, p. 608-617, . (13/03236-5)
ALINE D. COSTA-RIQUETTO; LUCAS S. SANTANA; LÍLIAN A. CAETANO; ANTÔNIO M. LERÁRIO; JOYA E. M. CORREIA-DEUR; DÉBORA R. BERTOLA; CHONG A. KIM; MÁRCIA NERY; ALEXANDER A. L. JORGE; MILENA G. TELES. Targeted massively parallel sequencing for congenital generalized lipodystrophy. ARCHIVES OF ENDOCRINOLOGY METABOLISM, v. 64, n. 5, p. 559-566, . (13/03236-5, 13/19920-2)
MONTENEGRO, LUCIANA; LABARTA, I, JOSE; PIOVESAN, MAIRA; CANTON, ANA P. M.; CORRIPIO, RAQUEL; SORIANO-GUILLEN, LEANDRO; TRAVIESO-SUAREZ, LOURDES; MARTIN-RIVADA, ALVARO; BARRIOS, VICENTE; SERAPHIM, CARLOS E.; et al. Novel Genetic and Biochemical Findings of DLK1 in Children with Central Precocious Puberty: A Brazilian-Spanish Study. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 105, n. 10, . (17/23892-5, 13/03236-5)
HOMMA, THAIS K.; FREIRE, BRUNA L.; HONJO, RACHEL; DAUBER, ANDREW; FUNARI, MARIANA F. A.; LERARIO, ANTONIO M.; ALBUQUERQUE, EDOARDA V. A.; VASQUES, GABRIELA A.; BERTOLA, DEBORA R.; KIM, CHONG A.; et al. Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature. Hormone Research in Paediatrics, v. 92, n. 2, p. 115-123, . (13/03236-5, 15/26980-7)
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, . (13/03236-5)
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, . (13/03236-5, 05/04726-0)
MACHADO CANTON, ANA PINHEIRO; NISHI, MIRIAN YUMIE; FURUYA, TATIANE KATSUE; ROELA, ROSIMEIRE APARECIDA; LIMA JORGE, ALEXANDER AUGUSTO. Good response to long-term therapy with growth hormone in a patient with 9p trisomy syndrome: A case report and review of the literature. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 170, n. 4, p. 1046-1049, . (13/03236-5)
DE ALBUQUERQUE ALBUQUERQUE, EDOARDA VASCO; DE ASSIS FUNARI, MARIANA FERREIRA; DE SOUZA QUEDAS, ELISANGELA PEREIRA; HONJO KAWAHIRA, RACHEL SAYURI; JALLAD, RAQUEL SOARES; HOMMA, THAIS KATAOKA; MARTIN, REGINA MATSUNAGA; BRITO, VINICIUS NAHIME; MALAQUIAS, ALEXSANDRA CHRISTIANNE; LERARIO, ANTONIO MARCONDES; et al. Genetic investigation of patients with tall stature. EUROPEAN JOURNAL OF ENDOCRINOLOGY, v. 182, n. 2, p. 139-147, . (13/03236-5)
SERAPHIM, CARLOS EDUARDO; CANTON, ANA PINHEIRO MACHADO; MONTENEGRO, LUCIANA; PIOVESAN, MAIARA RIBEIRO; MACEDO, DELANIE B.; CUNHA, MARINA; GUIMARAES, ALINE; OLIVEIRA RAMOS, CAROLINA; FIGUEIREDO BENEDETTI, ANNA FLAVIA; DE CASTRO LEAL, ANDREA; et al. Genotype-Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 106, n. 4, p. 1041-1050, . (18/03198-0, 13/03236-5)
NAKAGUMA, MARILENA; BIANCHI PEREIRA FERREIRA, NATHALIA GARCIA; FIGUEREDO BENEDETTI, ANNA FLAVIA; MADI, MARIANA COTARELLI; SILVA, JULIANA MOREIRA; LI, JUN Z.; MA, QIANYI; OZEL, AYSE BILGE; FANG, QING; NARCIZO, AMANDA DE MORAES; et al. Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum. GENES, v. 12, n. 8, . (15/26563-7, 13/03236-5, 13/02162-8)
VASQUES, GABRIELA A.; ARNHOLD, IVO J. P.; JORGE, ALEXANDER A. L.. Role of the Natriuretic Peptide System in Normal Growth and Growth Disorders. Hormone Research in Paediatrics, v. 82, n. 4, p. 222-229, . (13/03236-5, 11/11801-9)
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, . (13/03236-5)
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, . (13/03236-5, 09/00898-1)
SENTCHORDI-MONTANE, LUCIA; BENITO-SANZ, SARA; AZA-CARMONA, MIRIAM; PEREDA, ARRATE; PARRON-PAJARES, MANUEL; DE LA TORRE, CAROLINA; VASQUES, GABRIELA A.; FUNARI, MARIANA F. A.; TRAVESSA, ANDRE M.; DIAS, PATRICIA; et al. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 105, n. 8, p. 2654-2666, . (13/03236-5)
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, . (13/03236-5)
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, . (13/03236-5, 15/26980-7)
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, . (13/03236-5, 13/02162-8, 15/26980-7)
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; et al. Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature. Genetics in Medicine, v. 20, n. 1, p. 91-97, . (13/03236-5)
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.; et al. 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, . (13/03236-5)
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.; et al. Novel SUZ12 mutations in Weaver-like syndrome. Clinical Genetics, v. 94, n. 5, p. 461-466, . (13/03236-5, 13/02162-8)
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