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About 1,627 results

ALLMedicine™ Syndactyly Center

Research & Reviews  813 results

Omega Flap Technique: Revisiting Conventional Wisdom.
https://doi.org/10.1177/1558944721990786
Hand (New York, N.Y.); Balakrishnan G, Vijayaragavan S et. al.

Feb 17th, 2021 - Various surgical techniques have been described for the release of syndactylized fingers. In our experience, the omega flap technique, which includes a dorsal truncated flap and an anchor incision on the volar side, stands out as a good technique ...

Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.
https://doi.org/10.1038/s41586-021-03208-9 10.1101/gr.213066.116
Nature Allou L, Balzano S et. al.

Feb 11th, 2021 - Long non-coding RNAs (lncRNAs) can be important components in gene-regulatory networks1, but the exact nature and extent of their involvement in human Mendelian disease is largely unknown. Here we show that genetic ablation of a lncRNA locus on hu...

CACNA1C-Related Disorders - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/timothy/

Feb 10th, 2021 - The first identified CACNA1C-related disorder, referred to as Timothy syndrome, consists of the combination of prolonged QT interval, autism, and cardiovascular malformation with syndactyly of the fingers and toes. Infrequent findings also include...

Long-term follow-up of a patient with type 2 Timothy syndrome and the partial efficacy ...
https://doi.org/10.1016/j.gene.2021.145465
Gene Hermida A, Jedraszak G et. al.

Feb 1st, 2021 - We report a detailed case of type 2 TS due to a p.(Gly402Ser) mutation in exon 8 of the CACNA1C gene. The patient shows a marked prolongation of repolarization with a mean QTc of 540 ms. He shows no structural heart disease, syndactyly, or cranio-...

Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndro...
https://doi.org/10.1002/ajmg.a.62068
American Journal of Medical Genetics. Part A REFERENCES; Tedesco MG, Lonardo F et. al.

Jan 14th, 2021 - Feingold Syndrome type 1 (FS1) is an autosomal dominant disorder due to a loss of function mutations in the MYCN gene. FS1 is generally clinically characterized by mild learning disability, microcephaly, short palpebral fissures, short stature, br...

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Clinicaltrials.gov  813 results

Omega Flap Technique: Revisiting Conventional Wisdom.
https://doi.org/10.1177/1558944721990786
Hand (New York, N.Y.); Balakrishnan G, Vijayaragavan S et. al.

Feb 17th, 2021 - Various surgical techniques have been described for the release of syndactylized fingers. In our experience, the omega flap technique, which includes a dorsal truncated flap and an anchor incision on the volar side, stands out as a good technique ...

Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.
https://doi.org/10.1038/s41586-021-03208-9 10.1101/gr.213066.116
Nature Allou L, Balzano S et. al.

Feb 11th, 2021 - Long non-coding RNAs (lncRNAs) can be important components in gene-regulatory networks1, but the exact nature and extent of their involvement in human Mendelian disease is largely unknown. Here we show that genetic ablation of a lncRNA locus on hu...

CACNA1C-Related Disorders - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/timothy/

Feb 10th, 2021 - The first identified CACNA1C-related disorder, referred to as Timothy syndrome, consists of the combination of prolonged QT interval, autism, and cardiovascular malformation with syndactyly of the fingers and toes. Infrequent findings also include...

Long-term follow-up of a patient with type 2 Timothy syndrome and the partial efficacy ...
https://doi.org/10.1016/j.gene.2021.145465
Gene Hermida A, Jedraszak G et. al.

Feb 1st, 2021 - We report a detailed case of type 2 TS due to a p.(Gly402Ser) mutation in exon 8 of the CACNA1C gene. The patient shows a marked prolongation of repolarization with a mean QTc of 540 ms. He shows no structural heart disease, syndactyly, or cranio-...

Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndro...
https://doi.org/10.1002/ajmg.a.62068
American Journal of Medical Genetics. Part A REFERENCES; Tedesco MG, Lonardo F et. al.

Jan 14th, 2021 - Feingold Syndrome type 1 (FS1) is an autosomal dominant disorder due to a loss of function mutations in the MYCN gene. FS1 is generally clinically characterized by mild learning disability, microcephaly, short palpebral fissures, short stature, br...

see more →