I. Arnhold

发表

Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing.

Gabriela A. Vasques, C. Kim, A. Dauber, 2019, The Journal of pediatrics.

[Mutations in insulin-like growth factor receptor 1 gene (IGF1R) resulting in intrauterine and postnatal growth retardation].

L. Montenegro, A. Jorge, I. Arnhold, 2011, Arquivos brasileiros de endocrinologia e metabologia.

Comparison between weight-based and IGF-I-based growth hormone (GH) dosing in the treatment of children with GH deficiency and influence of exon 3 deleted GH receptor variant.

L. Montenegro, B. Mendonca, A. Jorge, 2009, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

A single luteinizing hormone determination 2 hours after depot leuprolide is useful for therapy monitoring of gonadotropin-dependent precocious puberty in girls.

A. Latronico, B. Mendonca, V. Brito, 2004, The Journal of clinical endocrinology and metabolism.

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 the etiology, diagnosis and therapeutic management of sexual precocity.

A. Latronico, B. Mendonca, V. Brito, 2008, Arquivos brasileiros de endocrinologia e metabologia.

Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery.

B. Mendonca, A. Jorge, M. Nishi, 2019, Archives of endocrinology and metabolism.

A single somatic activating Asp578His mutation of the luteinizing hormone receptor causes Leydig cell tumour in boys with gonadotropin‐independent precocious puberty

A. Latronico, B. Mendonca, I. Arnhold, 2006, Clinical endocrinology.

Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum

Jun Z. Li, S. Camper, L. Montenegro, 2021, Genes.

[Growth hormone (GH) deficiency treatment in children: comparison between uses of pen versus bottles/syringes on GH administration].

B. Mendonca, I. Arnhold, L. Carvalho, 2007, Arquivos brasileiros de endocrinologia e metabologia.

Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature

Gabriela A. Vasques, A. Krepischi, C. Longui, 2022, Endocrine connections.

Frequency of the allelic variant (Trp8Arg/Ile15Thr) of the luteinizing hormone gene in a Brazilian cohort of healthy subjects and in patients with hypogonadotropic hypogonadism.

B. Mendonca, I. Arnhold, A. Billerbeck, 2005, Clinics.

[Complete form of androgen insensitivity syndrome in Brazilian patients due to P766A mutation in the androgen receptor].

B. Mendonca, I. Arnhold, A. Billerbeck, 2005, Arquivos brasileiros de endocrinologia e metabologia.

Analysis of Craniofacial and Extremity Growth in Patients with Growth Hormone Deficiency during Growth Hormone Therapy

B. Mendonca, I. Arnhold, L. Carvalho, 2009, Hormone Research in Paediatrics.

Long-Term Outcomes of Patients with Central Precocious Puberty due to Hypothalamic Hamartoma after GnRHa Treatment: Anthropometric, Metabolic, and Reproductive Aspects

A. Latronico, B. Mendonca, D. Macedo, 2017, Neuroendocrinology.

Molecular and Gene Network Analysis of Thyroid Transcription Factor 1 (TTF1) and Enhanced at Puberty (EAP1) Genes in Patients with GnRH-Dependent Pubertal Disorders

S. Ojeda, Hollis Wright, S. Heger, 2013, Hormone Research in Paediatrics.

The benign spectrum of hypothalamic hamartomas: Infrequent epilepsy and normal cognition in patients presenting with central precocious puberty

L. K. Ferreira, A. Latronico, B. Mendonca, 2013, Seizure.

Allelic variants of the gamma-aminobutyric acid-A receptor alpha1-subunit gene (GABRA1) are not associated with idiopathic gonadotropin-dependent precocious puberty in girls with and without electroencephalographic abnormalities.

L. Guilhoto, A. Latronico, B. Mendonca, 2006, The Journal of clinical endocrinology and metabolism.

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.

Vasculometabolic effects in patients with congenital growth hormone deficiency with and without GH replacement therapy during adulthood

L. Bortolotto, B. Mendonca, I. Arnhold, 2020, Pituitary.

Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant

S. Rosemberg, A. Jorge, I. Arnhold, 2022, Archives of endocrinology and metabolism.

Growth hormone pharmacogenetics: the interactive effect of a microsatellite in the IGF1 promoter region with the GHR-exon 3 and −202 A/C IGFBP3 variants on treatment outcomes of children with severe GH deficiency

G. Guerra‐Júnior, B. Mendonca, I. Arnhold, 2011, The Pharmacogenomics Journal.

Acromegalic features in growth hormore (GH)‐deficient patients after long‐term GH therapy

B. Mendonca, I. Arnhold, V. Estefan, 2003, Clinical endocrinology.

[Novel nonsense mutation (p.Y113X) in the human growth hormone receptor gene in a Brazilian patient with Laron syndrome].

A. Rosenbloom, A. Jorge, F. Bandeira, 2008, Arquivos brasileiros de endocrinologia e metabologia.

HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype

M. Dattani, S. Camper, B. Mendonca, 2016, Clinical endocrinology.

Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants

A. Jorge, M. Nakaguma, I. Arnhold, 2018, Genetics in Medicine.

Relatively high frequency of non‐synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly

B. Mendonca, A. Jorge, I. Arnhold, 2013, Clinical endocrinology.

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.