Rapadilino Syndrome Latest Advances

Unilateral loss of recql4 function in Xenopus laevis tadpoles leads to ipsilateral ablation of the forelimb, hypoplastic Meckel's cartilage and vascular defects.

Journal: G3 (Bethesda, Md.)

Published: April 11, 2025

Severe Phenotype With RECQL4 Syndrome: A Report of Two Cases.

Journal: American journal of medical genetics. Part A

Published: October 09, 2023

Human RecQ Helicases in DNA Double-Strand Break Repair.

Journal: Frontiers in cell and developmental biology

Published: December 12, 2020

Human RecQL4 helicase plays multifaceted roles in the genomic stability of normal and cancer cells.

Journal: Cancer letters

Published: August 09, 2017

Immunodeficiency in a Child with Rapadilino Syndrome: A Case Report and Review of the Literature.

Journal: Case reports in immunology

Published: February 03, 2015

The DNA helicase recql4 is required for normal osteoblast expansion and osteosarcoma formation.

Journal: PLoS genetics

Published: January 05, 2015

RECQL4 Regulates p53 Function In Vivo During Skeletogenesis.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Published: August 15, 2014

Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation spectrum disorder.

Journal: Dermatology (Basel, Switzerland)

Published: November 09, 2012

RAPADILINO RECQL4 mutant protein lacks helicase and ATPase activity.

Journal: Biochimica et biophysica acta

Published: May 18, 2012

Osteosarcoma following growth hormone therapy in recurrent acute lymphoblastic leukemia and Rapadilino syndrome.

Journal: Pediatric hematology and oncology

Published: April 06, 2012

Rothmund-Thomson syndrome.

Journal: Orphanet journal of rare diseases

Published: April 17, 2009

A patient with Baller-Gerold syndrome and midline NK/T lymphoma.

Journal: American journal of medical genetics. Part A

Published: March 18, 2009

Filters

Unilateral loss of recql4 function in Xenopus laevis tadpoles leads to ipsilateral ablation of the forelimb, hypoplastic Meckel's cartilage and vascular defects.

Unilateral loss of recql4 function in Xenopus laevis tadpoles leads to ipsilateral ablation of the forelimb, hypoplastic Meckel's cartilage and vascular defects.

Severe Phenotype With RECQL4 Syndrome: A Report of Two Cases.

Severe Phenotype With RECQL4 Syndrome: A Report of Two Cases.

Human RecQ Helicases in DNA Double-Strand Break Repair.

Human RecQ Helicases in DNA Double-Strand Break Repair.

Human RecQL4 helicase plays multifaceted roles in the genomic stability of normal and cancer cells.

Human RecQL4 helicase plays multifaceted roles in the genomic stability of normal and cancer cells.

Immunodeficiency in a Child with Rapadilino Syndrome: A Case Report and Review of the Literature.

Immunodeficiency in a Child with Rapadilino Syndrome: A Case Report and Review of the Literature.

The DNA helicase recql4 is required for normal osteoblast expansion and osteosarcoma formation.

The DNA helicase recql4 is required for normal osteoblast expansion and osteosarcoma formation.

RECQL4 Regulates p53 Function In Vivo During Skeletogenesis.

RECQL4 Regulates p53 Function In Vivo During Skeletogenesis.

Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation spectrum disorder.

Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation spectrum disorder.

RAPADILINO RECQL4 mutant protein lacks helicase and ATPase activity.

RAPADILINO RECQL4 mutant protein lacks helicase and ATPase activity.

Osteosarcoma following growth hormone therapy in recurrent acute lymphoblastic leukemia and Rapadilino syndrome.

Osteosarcoma following growth hormone therapy in recurrent acute lymphoblastic leukemia and Rapadilino syndrome.

Rothmund-Thomson syndrome.

Rothmund-Thomson syndrome.

A patient with Baller-Gerold syndrome and midline NK/T lymphoma.

A patient with Baller-Gerold syndrome and midline NK/T lymphoma.