A. Jorge

发表

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

L. Montenegro, A. Lerário, M. Y. Nishi, 2021, Clinics.

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

T. Strom, M. Lek, B. Lenhard, 2018, Brain : a journal of neurology.

Phenotype–genotype analysis of 242 individuals with RASopathies: 18‐year experience of a tertiary center in Brazil

A. Pereira, M. Passos-Bueno, C. Kim, 2020, American journal of medical genetics. Part C, Seminars in medical genetics.

Growth standards of patients with Noonan and Noonan‐like syndromes with mutations in the RAS/MAPK pathway

A. Pereira, A. Jorge, B. Mendonca, 2012, American journal of medical genetics. Part A.

Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?

José Eduardo Krieger, Débora Romeo Bertola, Alexandre C Pereira, 2010, Arquivos brasileiros de endocrinologia e metabologia.

PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes.

J. Krieger, A. Pereira, C. Kim, 2010, Genetic testing and molecular biomarkers.

Developmental Syndromes of Ras/MAPK Pathway Dysregulation

A. Jorge, A. Jorge, Alexsandra C Malaquias, 2014 .

Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies

C. Kim, A. Jorge, J. Carvalho, 2012, American journal of medical genetics. Part A.

Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature

Gabriela A. Vasques, C. Kim, A. Dauber, 2019, Hormone Research in Paediatrics.

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

A. Lerário, A. Jorge, B. Mendonca, 2019, Endocrine connections.

Update on new GH-IGF axis genetic defects.

Gabriela A. Vasques, A. Jorge, Gabriela A Vasques, 2020, Archives of endocrinology and metabolism.

Targeted massively parallel sequencing for congenital generalized lipodystrophy

C. Kim, M. Teles, A. Lerário, 2020, Archives of endocrinology and metabolism.

Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome

J. Lupski, R. Gibbs, D. Muzny, 2022, Human mutation.

KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G‐domain: Report of another family with metopic craniosynostosis

J. Krieger, A. Pereira, C. Kim, 2012, American journal of medical genetics. Part A.

Delayed Puberty Phenotype Observed in Noonan Syndrome Is More Pronounced in Girls than Boys

A. Jorge, D. Bertola, R. M. Noronha, 2022, Hormone Research in Paediatrics.

Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia

Gabriela A. Vasques, C. de Bruin, V. Hwa, 2016, Hormone Research in Paediatrics.

Evaluation of SHOX defects in the era of next‐generation sequencing

Gabriela A. Vasques, A. Lerário, A. Jorge, 2019, Clinical genetics.

Targeted massively parallel sequencing panel to diagnose genetic endocrine disorders in a tertiary hospital

L. Montenegro, A. Jorge, B. Mendonca, 2022, Clinics.

Novel SUZ12 mutations in Weaver‐like syndrome

A. Takata, N. Matsumoto, N. Miyake, 2018, Clinical genetics.

Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes

A. Krepischi, A. Lerário, A. Jorge, 2015, Clinical endocrinology.

Tegumentary manifestations of Noonan and Noonan-related syndromes

A. Pereira, C. Kim, Tatiana Ferreira de Almeida, 2013, Clinics.

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome

A. Pereira, M. Passos-Bueno, M. Zatz, 2015, Journal of Medical Genetics.

Further evidence of the importance of RIT1 in Noonan syndrome

M. Passos-Bueno, C. Kim, G. Yamamoto, 2014, American journal of medical genetics. Part A.

Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency.

E. Baracat, A. Lerário, A. Jorge, 2019, European journal of medical genetics.

Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses

P. Pearson, L. Ribeiro-Bicudo, A. Vianna-Morgante, 2021, American journal of medical genetics. Part A.

Variants in 46,XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias

G. Guerra‐Júnior, A. Jorge, B. Mendonca, 2021, Sexual Development.

Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature.

Gabriela A. Vasques, A. Lerário, A. Jorge, 2019, The Journal of clinical endocrinology and metabolism.

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

S. Lalani, M. Shinawi, J. Baron, 2017, The Journal of clinical endocrinology and metabolism.

Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis.

Gabriela A. Vasques, A. Jorge, Á. Campos-Barros, 2015, The Journal of clinical endocrinology and metabolism.

Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature

A. Lerário, A. Jorge, Á. Campos-Barros, 2017, Genetics in Medicine.

Clinical and molecular description of 16 families with heterozygous IHH variants.

Gabriela A. Vasques, C. de la Torre, E. Vallespín, 2020, The Journal of clinical endocrinology and metabolism.

Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2

Gabriela A. Vasques, A. Lerário, A. Jorge, 2017, Journal of pediatric endocrinology & metabolism : JPEM.

IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy

Gabriela A. Vasques, Y. Duarte, M. Naslavsky, 2018, The Journal of clinical endocrinology and metabolism.

Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing.

S. Marx, A. Lerário, A. Jorge, 2018, European journal of endocrinology.

Genetic causes of isolated short stature

Gabriela A. Vasques, A. Jorge, N. Andrade, 2019, Archives of endocrinology and metabolism.

Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations

A. Jorge, B. Mendonca, M. Nishi, 2017, Clinical endocrinology.

The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for SHOX Analysis

G. Guerra‐Júnior, A. Jorge, B. Mendonca, 2013, Hormone Research in Paediatrics.

A thermosensitive PCNA allele underlies an ataxia-telangiectasia-like disorder

J. B. Vilar, C. Menck, V. Munford, 2023, The Journal of biological chemistry.

PCNA thermosensitivity underlies an Ataxia Telangiectasia-like disorder

J. B. Vilar, C. Menck, V. Munford, 2022, medRxiv.

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

C. Elias, D. Garcia-Galiano, A. Lerário, 2019, The Journal of clinical endocrinology and metabolism.

Diagnosis of TBC1D32‐associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy

P. Shannon, D. Chitayat, K. Gilmore, 2023, American journal of medical genetics. Part A.

Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile

A. Jorge, D. Bertola, T. Homma, 2020, American journal of medical genetics. Part A.

Genetics of SHOX Deficiency

A. Jorge, R. Scalco, M. Nishi, 2012 .

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.

A. Pagnamenta, P. Bauer, Jenny C. Taylor, 2020, American journal of human genetics.

International Consensus Guideline on Small for Gestational Age: Etiology and Management From Infancy to Early Adulthood

V. Mericq, A. Dauber, M. Yau, 2023, Endocrine reviews.

Contribution of clinical and genetic approaches for diagnosing 209 index cases with 46,XY Differences of Sex Development.

L. Montenegro, A. Lerário, A. Jorge, 2022, The Journal of clinical endocrinology and metabolism.

Response to Letter to the Editor: IHH Gene Mutations Causing Short Stature with Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.

Gabriela A. Vasques, A. Jorge, 2019, The Journal of clinical endocrinology and metabolism.