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About 22 results

ALLMedicine™ Baller-gerold Syndrome Center

Research & Reviews  11 results

Baller-Gerold Syndrome - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/bgs/

Apr 18th, 2018 - Baller-Gerold syndrome (BGS) can be suspected at birth in an infant with craniosynostosis and upper limb abnormality. The coronal suture is most commonly affected; the metopic, lambdoid, and sagittal sutures may also be involved alone or in combin...

Nationwide survey of Baller‑Gerold syndrome in Japanese population.
https://doi.org/10.3892/mmr.2017.6408
Molecular Medicine Reports; Kaneko H, Izumi R et. al.

Mar 30th, 2017 - Baller-Gerold syndrome (BGS) is a rare autosomal genetic disorder characterized by radial aplasia/hypoplasia and craniosynostosis. The causative gene for BGS encodes RECQL4, which belongs to the RecQ helicase family. To understand BGS patients in ...

The DNA helicase recql4 is required for normal osteoblast expansion and osteosarcoma fo...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4393104
PLoS Genetics; Ng AJ, Walia MK et. al.

Apr 10th, 2015 - RECQL4 mutations are associated with Rothmund Thomson Syndrome (RTS), RAPADILINO Syndrome and Baller-Gerold Syndrome. These patients display a range of benign skeletal abnormalities such as low bone mass. In addition, RTS patients have a highly in...

RECQL4 Regulates p53 Function In Vivo During Skeletogenesis.
https://doi.org/10.1002/jbmr.2436
Journal of Bone and Mineral Research : the Official Journ... Lu L, Harutyunyan K et. al.

Jan 5th, 2015 - RECQ DNA helicases play critical roles in maintaining genomic stability, but their role in development has been less well studied. Rothmund-Thomson syndrome, RAPADILINO, and Baller-Gerold syndrome are rare genetic disorders caused by mutations in ...

Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation ...
https://doi.org/10.1159/000351311
Dermatology (Basel, Switzerland); Fradin M, Merklen-Djafri C et. al.

Jul 31st, 2013 - The follow-up of a man from birth to adulthood, presenting with features both of RAPADILINO and Rothmund-Thomson syndrome (RTS), is described. Molecular studies confirmed the presence of two different mutations, c.2767_2768delTT and c.3061C>T, in ...

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Clinicaltrials.gov  11 results

Baller-Gerold Syndrome - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/bgs/

Apr 18th, 2018 - Baller-Gerold syndrome (BGS) can be suspected at birth in an infant with craniosynostosis and upper limb abnormality. The coronal suture is most commonly affected; the metopic, lambdoid, and sagittal sutures may also be involved alone or in combin...

Nationwide survey of Baller‑Gerold syndrome in Japanese population.
https://doi.org/10.3892/mmr.2017.6408
Molecular Medicine Reports; Kaneko H, Izumi R et. al.

Mar 30th, 2017 - Baller-Gerold syndrome (BGS) is a rare autosomal genetic disorder characterized by radial aplasia/hypoplasia and craniosynostosis. The causative gene for BGS encodes RECQL4, which belongs to the RecQ helicase family. To understand BGS patients in ...

The DNA helicase recql4 is required for normal osteoblast expansion and osteosarcoma fo...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4393104
PLoS Genetics; Ng AJ, Walia MK et. al.

Apr 10th, 2015 - RECQL4 mutations are associated with Rothmund Thomson Syndrome (RTS), RAPADILINO Syndrome and Baller-Gerold Syndrome. These patients display a range of benign skeletal abnormalities such as low bone mass. In addition, RTS patients have a highly in...

RECQL4 Regulates p53 Function In Vivo During Skeletogenesis.
https://doi.org/10.1002/jbmr.2436
Journal of Bone and Mineral Research : the Official Journ... Lu L, Harutyunyan K et. al.

Jan 5th, 2015 - RECQ DNA helicases play critical roles in maintaining genomic stability, but their role in development has been less well studied. Rothmund-Thomson syndrome, RAPADILINO, and Baller-Gerold syndrome are rare genetic disorders caused by mutations in ...

Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation ...
https://doi.org/10.1159/000351311
Dermatology (Basel, Switzerland); Fradin M, Merklen-Djafri C et. al.

Jul 31st, 2013 - The follow-up of a man from birth to adulthood, presenting with features both of RAPADILINO and Rothmund-Thomson syndrome (RTS), is described. Molecular studies confirmed the presence of two different mutations, c.2767_2768delTT and c.3061C>T, in ...

see more →