FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split‐Hand/Foot Malformation: Implications for the Promoter Region
Sign Up to like & getrecommendations! Published in 2017 at "Human Mutation"
DOI: 10.1002/humu.23178
Abstract: Heterozygous loss‐of‐function mutations of FGFR1 (fibroblast growth factor receptor 1) cause various disorders including hypogonadotropic hypogonadism with split‐hand/foot malformation (HH‐SHFM). We examined FGFR1 in four Japanese patients with HH‐SHFM (cases 1–4) and the mother of… read more here.
Keywords: foot malformation; split hand; fgfr1; hypogonadotropic hypogonadism ... See more keywords
4. Median/ulnar nerve ultrasound cross-sectional area ratio in ALS
Sign Up to like & getrecommendations! Published in 2018 at "Clinical Neurophysiology"
DOI: 10.1016/j.clinph.2017.12.017
Abstract: Background It has been shown that hand muscle wasting in amyotrophic lateral sclerosis (ALS) preferentially affects the thenar muscles, with relative sparing of the hypothenar muscles. This so-called “split-hand” is clinical sign that can be… read more here.
Keywords: ulnar nerve; split hand; median ulnar; nerve ... See more keywords
Split hand/foot malformation associated with 20p12.1 deletion: A case report.
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DOI: 10.1016/j.ejmg.2019.103805
Abstract: Split hand/foot malformation (SHFM) or ectrodactyly is a rare congenital disorder affecting limb development characterized by clinical and genetic heterogeneity. SHFM is usually inherited as an autosomal dominant trait with incomplete penetrance. Isolated and syndromic… read more here.
Keywords: foot malformation; malformation; hand foot; split hand ... See more keywords
Split hand in amyotrophic lateral sclerosis: A systematic review and meta-analysis
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DOI: 10.1016/j.jocn.2021.06.015
Abstract: OBJECTIVE To investigate the frequency of split hand (SI) and its diagnostic performance in amyotrophic lateral sclerosis (ALS). METHODS PubMed, EMBASE, OVID and other databases were searched systematically up to March 2021 for relevant reports… read more here.
Keywords: analysis; hand; amyotrophic lateral; split hand ... See more keywords
L’asymétrie du split-hand index : un marqueur ENMG précoce de SLA ?
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DOI: 10.1016/j.neucli.2019.05.005
Abstract: Contexte Un split hand index (SHI) (APB × FDI/ADM) inferieur a 5,2 ete propose recemment comme parametre electrophysiologique simple permettant de differencier la SLA de populations controles. Objectifs Valider ce seuil pathologique dans une cohorte de patients SLA… read more here.
Keywords: sla; hand index; split hand;
Microduplication of BTRC detected in a Chinese family with split hand/foot malformation type 3
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DOI: 10.1111/cge.14204
Abstract: Split hand/foot malformation (SHFM) is a clinically heterogeneous genetic disorder, which is mainly characterized by median clefts of the hand/feet due to the absence of the central digital rays. Several subgroups of SHFM have been… read more here.
Keywords: family; microduplication; malformation; hand ... See more keywords
Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation
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DOI: 10.1590/1678-4685-gmb-2016-0162
Abstract: Abstract Split-hand/split-foot malformation (SHFM), also known as ectrodactyly is a rare genetic disorder. It is a clinically and genetically heterogeneous group of limb malformations characterized by absence/hypoplasia and/or median cleft of hands and/or feet. To… read more here.
Keywords: foot malformation; gene; wnt10b gene; split hand ... See more keywords
Split Hand Foot Malformation Syndrome: A Novel Heterozygous FGFR1 Mutation Detected by Next Generation Sequencing
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DOI: 10.2174/1389202920666190530092856
Abstract: Background: Split-hand/foot malformation syndrome is a rare, clinically and genetically het-erogeneous group of limb malformations characterized by absence/hypoplasia and/or median cleft of hands and/or feet. It may occur as an isolated abnormality or it may… read more here.
Keywords: foot malformation; hand; split hand; foot ... See more keywords
Reassessing the Diagnostic Utility of the Split Hand Index in Amyotrophic Lateral Sclerosis Patients—The Divide by Zero Problem
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DOI: 10.3390/neurolint14030059
Abstract: We set out to assess the diagnostic utility of the split hand index (SHI) for amyotrophic lateral sclerosis (ALS) and also to see if and how it can be applied to severely atrophied muscles, a… read more here.
Keywords: split hand; hand index; utility split; utility ... See more keywords
Dermolipoma in a case of split hand/foot malformation: A report of a novel ophthalmic presentation in a rare disease
Sign Up to like & getrecommendations! Published in 2022 at "Indian Journal of Ophthalmology"
DOI: 10.4103/ijo.ijo_2816_21
Abstract: Received: 14‐Nov‐2021 Revision: 30‐Jan‐2022 Accepted: 14‐Mar‐2022 Published: 30‐Jun‐2022 Cite this article as: Khurana D, Balasubramaniyan MS, Hastak S, Chandrasekharan A. Dermolipoma in a case of split hand/foot malformation: A report of a novel ophthalmic presentation… read more here.
Keywords: malformation report; hand foot; split hand; dermolipoma case ... See more keywords