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Last Updated: 10/31/2025

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Found 63 publications

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

Comparison of Minimally Invasive Surfactant Therapy and Intubation-surfactant Administration-extubation in Premature Neonates with Respiratory Distress Syndrome.

Comparison of Minimally Invasive Surfactant Therapy and Intubation-surfactant Administration-extubation in Premature Neonates with Respiratory Distress Syndrome.

Journal: Oman medical journal
Published: July 25, 2024

Beckwith-Wiedemann syndrome with juvenile fibrous nodules and lobular breast tumors: a case report and review of the literature.

Beckwith-Wiedemann syndrome with juvenile fibrous nodules and lobular breast tumors: a case report and review of the literature.

Journal: Surgical case reports
Published: January 01, 2024

Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation.

Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation.

Journal: Frontiers in genetics
Published: May 30, 2023

Further understanding of paternal uniparental disomy in Beckwith-Wiedemann syndrome.

Further understanding of paternal uniparental disomy in Beckwith-Wiedemann syndrome.

Journal: Expert review of endocrinology & metabolism
Published: November 15, 2022

Placental Mesenchymal Dysplasia and Beckwith-Wiedemann Syndrome.

Placental Mesenchymal Dysplasia and Beckwith-Wiedemann Syndrome.

Journal: Cancers
Published: October 18, 2022

Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort.

Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort.

Journal: Journal of medical genetics
Published: October 18, 2022

Adrenocortical Tumors in Children With Constitutive Chromosome 11p15 Paternal Uniparental Disomy: Implications for Diagnosis and Treatment.

Adrenocortical Tumors in Children With Constitutive Chromosome 11p15 Paternal Uniparental Disomy: Implications for Diagnosis and Treatment.

Journal: Frontiers in endocrinology
Published: August 10, 2021

Beckwith-Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature.

Beckwith-Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature.

Journal: Molecular genetics & genomic medicine
Published: April 28, 2021

Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome.

Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome.

Journal: Genes
Published: March 15, 2021

Pediatric Cushing syndrome: An early sign of an underling cancer predisposition syndrome.

Pediatric Cushing syndrome: An early sign of an underling cancer predisposition syndrome.

Journal: American journal of medical genetics. Part A
Published: November 30, 2020

Clinical, Genetic, and Prognostic Features of Adrenocortical Tumors in Children: A 10-Year Single-Center Experience.

Clinical, Genetic, and Prognostic Features of Adrenocortical Tumors in Children: A 10-Year Single-Center Experience.

Journal: Frontiers in oncology
Published: April 21, 2020
Showing 1-12 of 63

Last Updated: 10/31/2025