About 1,530 results

ALLMedicine™ Polydactyly Center

Research & Reviews  588 results

De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
American Journal of Medical Genetics. Part A; Penon-Portmann M, Eldomery MK et. al.

Jun 26th, 2022 - Joubert syndrome (JS), a well-established ciliopathy, is characterized by the distinctive molar tooth sign on brain MRI, ataxia, and neurodevelopmental features. Other manifestations can include polydactyly, accessory frenula, renal, or liver dise...

Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic v...
https://doi.org/10.1007/s00467-022-05616-z 10.3390/genes12091353 10.1038/ng.756 10.1111/cge.12737 10.1038/ejhg.2012.115 10.1016/j.jpeds.2018.08.068 10.1016/j.jgyn.2010.07.012 10.1126/science.1063525 10.1126/science.1065930 10.1007/s00467-010-1731-7 10.3390/ijms18040796 10.1002/humu.21057 10.1093/nar/gku1206 10.1007/s00467-010-1751-3 10.1111/cge.13500 10.1038/s41588-020-0707-1
Pediatric Nephrology (Berlin, Germany); Viehl L, Wegner DJ et. al.

Jun 14th, 2022 - Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive ciliopathy characterized by early onset retinal dystrophy, renal anomalies, postaxial polydactyly, and cognitive impairment with considerable phenotypic heterogeneity. BBS results from bia...

Parent Perspectives for Type B Ulnar Polydactyly Management.
Hand (New York, N.Y.); Goebel GJ, Loewenstein SN et. al.

Jun 7th, 2022 - Type B ulnar polydactyly is one of the most commonly encountered congenital hand differences and can be treated with ligation or excision. The purpose of this study was to determine what factors families consider in selecting treatment for their c...

Novel 12 Mb interstitial deletion of chromosome 8p11.22-p21.2: a case report.
https://doi.org/10.1186/s12920-022-01274-0 10.1073/pnas.87.8.3117 10.1038/ng1122 10.1136/bcr-2018-228782 10.1016/j.ajhg.2015.01.016 10.1111/j.1365-2141.1991.tb04425.x 10.1007/BF00291244 10.1002/ajmg.1320580306 10.1002/ajmg.a.31163 10.1038/ng0696-214 10.1002/ajmg.1320420105 10.1182/blood.V48.1.53.53 10.1182/blood.V69.1.156.156 10.1016/S0014-4827(02)00102-7 10.1007/s00018-001-8398-y
BMC Medical Genomics; Dai J, Zeng J et. al.

Jun 7th, 2022 - The deletion of a short arm fragment on chromosome 8 is a rare cause of Kallmann syndrome and spherocytosis due to deletion of the FGFR1 and ANK1 genes. This case study describes a 4-month-old child with growth and psychomotor retardation, auricle...

Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining...
Genetics in Medicine : Official Journal of the American C... Dufour W, Alawbathani S et. al.

May 19th, 2022 - LEF1 encodes a transcription factor acting downstream of the WNT-β-catenin signaling pathway. It was recently suspected as a candidate for ectodermal dysplasia in 2 individuals carrying 4q35 microdeletions. We report on 12 individuals harboring LE...

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Drugs  4 results see all →

Clinicaltrials.gov  8 results

Study of Selected X-linked Disorders: Goltz Syndrome

Mar 9th, 2022 - Goltz syndrome or Focal Dermal Hypoplasia (FDH) is an X-linked dominant neurodevelopmental disorder. The primary features of FDH include areas of hypoplastic skin (atrophy, linear pigmentation and herniation of fat through dermal defects), digital...

Clinical and Molecular Investigations Into Ciliopathies

Feb 21st, 2021 - Human diseases caused by defects of the primary cilium (ciliopathies) are a group of distinct disorders with overlapping features. Clinical features of ciliopathies include fibrocystic disease of the kidneys and liver, retinal degeneration, obesit...

Genetics and Clinical Characteristics of Bardet-Biedl Syndrome

Dec 4th, 2019 - Although the Bardet-Biedl syndrome (BBS: severe obesity, polydactyly, learning disabilities, retinopathy, renal disease and cardiac malformations) was described more than 80 years ago, it is only over the past few years that extensive data on the ...

Visualize Nociceptor Changes in Neuropathic Human

Oct 16th, 2017 - This study will be the skin tissue for the virtual slice object, the study intends to the following research: The number of people enrolled in the Court is 170. Between 20 and 90 years old, meet the following conditions, suitable for participation...

Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome

Jan 29th, 2016 - Smith-Lemli- Opitz syndrome (SLOS) is an autosomal recessive genetic condition caused by a deficiency of the enzyme 3beta-hydroxysterol delta(7)- reductase (DHCR7). DHCR7 is the final enzyme in the sterol synthetic pathway and converts 7- dehydroc...

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News  12 results

Congenital Defect of the Toenail
Daniel W. Cole, MD, Tomas Huerta, MD et. al.

Sep 29th, 2020 - The Diagnosis: Onychodystrophy Secondary to Polydactyly Radiographs of the feet demonstrated an accessory distal phalanx of the left great toe with a similar smaller accessory distal phalanx on the right great toe (Figure). The patient was referre.

Air-conditioned cognition, brain worm, and six-fingered success
Lucas Franki, Richard Franki et. al.

Jun 5th, 2019 - (Women’s) Winter is coming Summer approaches and the Great Freeze begins to make its way through offices across the country. Women everywhere start dragging out those cardigans stored in desks long ago.

Reassurance for women taking certolizumab during pregnancy
Bianca Nogrady

Apr 6th, 2018 - The use of certolizumab pegol during pregnancy does not appear to be associated with an increased risk of fetal death or congenital malformations, according to results of a new study. Megan E.

Allogeneic cell therapy fares well in phase III osteoarthritis trial
Sara Freeman

Apr 20th, 2016 - AMSTERDAM – A novel intra-articular allogeneic cell therapy improved knee osteoarthritis pain, physical activity, and patients’ quality of life in a randomized, placebo-controlled, double-blind, phase III trial reported at the World Congress on Os.

Polydactyly of the Hand

May 5th, 2015 - Pentadactyly is treated like thumb hypoplasia, with first web space creation. 1 Complications In polydactyly, a reoperation rate of up to 25% has been reported, with most reoperations performed because of residual or subsequent deformity.

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