Alexander A. De Lima Jorge

Sao Paulo, SP, Brazil

Last Updated: 09/26/2026

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Found 16 publications

Long-term growth hormone therapy improves adult height in children with Indian hedgehog (IHH)-related short stature.

Long-term growth hormone therapy improves adult height in children with Indian hedgehog (IHH)-related short stature.

Journal: Hormone research in paediatrics

Published: January 26, 2026

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.

Journal: medRxiv : the preprint server for health sciences

Published: December 03, 2025

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

Journal: Nature communications

Published: October 17, 2025

Trends In Reported Outcomes for Growth Hormone Therapy In Children With Growth Hormone Deficiency.

Trends In Reported Outcomes for Growth Hormone Therapy In Children With Growth Hormone Deficiency.

Journal: The Journal of clinical endocrinology and metabolism

Published: July 19, 2025

Genetic Investigation of Regulatory Regions of MKRN3 and DLK1 Genes in Children with Central Precocious Puberty.

Genetic Investigation of Regulatory Regions of MKRN3 and DLK1 Genes in Children with Central Precocious Puberty.

Journal: Hormone research in paediatrics

Published: September 26, 2024

Rare Causes and Differential Diagnosis in Patients With Silver-Russell Syndrome.

Rare Causes and Differential Diagnosis in Patients With Silver-Russell Syndrome.

Journal: Clinical genetics

Published: August 30, 2024

Response to Recombinant Human Growth Hormone Therapy in Short Children Born at Very Low Birth Weight.

Response to Recombinant Human Growth Hormone Therapy in Short Children Born at Very Low Birth Weight.

Journal: Hormone research in paediatrics

Published: July 22, 2024

Clinical Predictors of Good/Poor Response to Growth Hormone Treatment in Children with Idiopathic Short Stature.

Clinical Predictors of Good/Poor Response to Growth Hormone Treatment in Children with Idiopathic Short Stature.

Journal: Hormone research in paediatrics

Published: July 19, 2024

EHMT2 as a Candidate Gene for an Autosomal Recessive Neurodevelopmental Syndrome.

EHMT2 as a Candidate Gene for an Autosomal Recessive Neurodevelopmental Syndrome.

Journal: Molecular neurobiology

Published: May 06, 2024

Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia.

Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia.

Journal: Communications medicine

Published: January 12, 2024

Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant.

Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant.

Journal: European journal of human genetics : EJHG

Published: March 19, 2023

Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.

Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.

Journal: Journal of autism and developmental disorders

Published: November 26, 2022

Showing 1-12 of 16

Last Updated: 09/26/2026