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Academic Journal

Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants.

Subjects: Forkhead Transcription Factors*/Forkhead Transcription Factors*/Forkhead Transcription Factors*/genetics ; Neurodevelopmental Disorders*/Neurodevelopmental Disorders*/Neurodevelopmental Disorders*/genetics ; Neurodevelopmental Disorders*/Neurodevelopmental Disorders*/Neurodevelopmental Disorders*/pathology

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Nov; Vol. 194 (11), pp. e63713. Date of Electronic Publication: 2024 Jun 26.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited

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Report

Expanding the phenotypic spectrum for CDK8-related disease: A case report.

  • Authors : Comeau D; Vitalité Health Network, Dr Georges-L.-Dumont University Hospital Center, Moncton, New Brunswick, Canada.; Belliveau J

Subjects: Scoliosis* ; Contracture*/Contracture*/Contracture*/diagnosis ; Contracture*/Contracture*/Contracture*/genetics

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 May; Vol. 194 (5), pp. e63537. Date of Electronic Publication: 2024 Jan 09.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited

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Report

A case of severe psoriatic arthritis with hands flexion contracture and palmar psoriasis successfully treated with guselkumab.

  • Authors : Megna M; Section of Dermatology, Department of Clinical Medicine and Surgery, University of Naples Federico II, Napoli, Italy.; Marano L

Subjects: Arthritis, Psoriatic*/Arthritis, Psoriatic*/Arthritis, Psoriatic*/complications ; Arthritis, Psoriatic*/Arthritis, Psoriatic*/Arthritis, Psoriatic*/diagnosis ; Arthritis, Psoriatic*/Arthritis, Psoriatic*/Arthritis, Psoriatic*/drug therapy

  • Source: Dermatologic therapy [Dermatol Ther] 2022 Oct; Vol. 35 (10), pp. e15766. Date of Electronic Publication: 2022 Aug 18.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 9700070 Publication Model: Print-Electronic Cited

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Academic Journal

Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis.

  • Authors : DiGiovanna JJ; DNA Repair Section, Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland, USA.; Randall G

Subjects: Trichothiodystrophy Syndromes*/Trichothiodystrophy Syndromes*/Trichothiodystrophy Syndromes*/diagnosis ; Trichothiodystrophy Syndromes*/Trichothiodystrophy Syndromes*/Trichothiodystrophy Syndromes*/genetics ; Coxa Valga*/Coxa Valga*/Coxa Valga*/complications

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Dec; Vol. 188 (12), pp. 3448-3462. Date of Electronic Publication: 2022 Sep 14.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited

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Academic Journal

Bullous lichen sclerosus-generalized morphea overlap syndrome improved by tofacitinib.

  • Authors : Liu L; Department of Dermatology, Second Xiangya Hospital of Central South University, Changsha, China.; Clinical Medical Research Center of Major Skin Diseases and Skin Health of Hunan Province, Changsha, China.

Subjects: Scleroderma, Localized*/Scleroderma, Localized*/Scleroderma, Localized*/complications ; Scleroderma, Localized*/Scleroderma, Localized*/Scleroderma, Localized*/diagnosis ; Scleroderma, Localized*/Scleroderma, Localized*/Scleroderma, Localized*/drug therapy

  • Source: Dermatologic therapy [Dermatol Ther] 2022 Dec; Vol. 35 (12), pp. e15942. Date of Electronic Publication: 2022 Nov 03.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 9700070 Publication Model: Print-Electronic Cited

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Academic Journal

Juvenile case of multiple morphea profunda resulting in joint contracture that was successfully treated with cyclosporin A: A case report and review of the published works.

  • Authors : Ogawa T; Department of Dermatology, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.; Okiyama N

Subjects: Wrist Joint*; Contracture/Contracture/Contracture/*etiology ; Cyclosporine/Cyclosporine/Cyclosporine/*therapeutic use

  • Source: The Journal of dermatology [J Dermatol] 2019 Apr; Vol. 46 (4), pp. 354-357. Date of Electronic Publication: 2019 Jan 31.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 7600545 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Expanding phenotype of FAM111B-related disease focusing on liver involvement: Literature review, report of a case with end-stage liver disease and proposal for a new acronym.

  • Authors : Macchiaiolo M; Rare Diseases and Medical Genetics Unit, University-Hospital Pediatric Department (DPUO) Bambino Gesù Children's Hospital, IRCSS, Rome, Italy.; Panfili FM

Subjects: Contracture*/Contracture*/Contracture*/genetics ; End Stage Liver Disease*/End Stage Liver Disease*/End Stage Liver Disease*/complications ; Muscular Diseases*/Muscular Diseases*/Muscular Diseases*/complications

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Oct; Vol. 188 (10), pp. 2920-2931. Date of Electronic Publication: 2022 Jul 23.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited

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Editorial & Opinion

Skin biopsy is helpful in the diagnosis of hereditary fibrosing POIKiloderma with tendon contractures, myopathy and pulmonary fibrosis, due to FAM111B mutation.

  • Authors : Leclerc-Mercier S; Department of Pathology and Reference Center for Genodermatoses (MAGEC Center), Necker-Enfants Malades Hospital, Paris Centre University, Paris, France.; Mercier S

Subjects: Contracture*/Contracture*/Contracture*/genetics ; Muscular Diseases*/Muscular Diseases*/Muscular Diseases*/diagnosis ; Muscular Diseases*/Muscular Diseases*/Muscular Diseases*/genetics

  • Source: Journal of the European Academy of Dermatology and Venereology : JEADV [J Eur Acad Dermatol Venereol] 2022 Jun; Vol. 36 (6), pp. e439-e441. Date of Electronic Publication: 2022 FebPublisher: Wiley-Blackwell Country of Publication: England NLM ID: 9216037 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Classification and rising medication therapy in stiff skin syndrome: A case report and literature review.

  • Authors : Lin Z; Department of Pediatrics, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, China.; Pei Y

Subjects: Contracture* ; Skin Diseases, Genetic*/Skin Diseases, Genetic*/Skin Diseases, Genetic*/drug therapy; Child, Preschool Stiff Skin Syndrome

  • Source: Dermatologic therapy [Dermatol Ther] 2022 Aug; Vol. 35 (8), pp. e15633. Date of Electronic Publication: 2022 Jun 21.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 9700070 Publication Model: Print-Electronic Cited

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Academic Journal

Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum.

  • Authors : Otaify GA; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Abdel-Hamid MS

Subjects: Arthrogryposis*/Arthrogryposis*/Arthrogryposis*/diagnosis ; Arthrogryposis*/Arthrogryposis*/Arthrogryposis*/genetics ; Contracture*/Contracture*/Contracture*/genetics

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Jun; Vol. 188 (6), pp. 1815-1825. Date of Electronic Publication: 2022 Mar 12.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited

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  • 1-10 of  17,771 results for ""Contracture""