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Academic Journal

Djeho, the Egyptian God's dancer with dwarfism from the thirtieth dynasty.

  • Authors : Valdes-Socin H; Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Liège, Belgium. .; Daly AF

Subjects: Dwarfism* ; Achondroplasia*; Male

  • Source: Journal of endocrinological investigation [J Endocrinol Invest] 2023 Nov; Vol. 46 (11), pp. 2421-2422. Date of Electronic Publication: 2023 Mar 23.Publisher: Springer Country of Publication: Italy NLM ID: 7806594 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1720-8386

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Academic Journal

Craniofacial Features of Dwarfism in the Paintings of Velázquez.

  • Authors : Hwang SW; Department of Plastic, Reconstructive Microsurgery and Hand Surgery, Kyrgyz State Medical Academy, and National Hospital of Kyrgyzstan, Bishkek, Kyrgyzstan.; Hwang K

Subjects: Paintings*/Paintings*/Paintings*/history ; Medicine in the Arts* ; Achondroplasia* Malar hypoplasia

  • Source: The Journal of craniofacial surgery [J Craniofac Surg] 2023 Sep 01; Vol. 34 (6), pp. 1804-1806. Date of Electronic Publication: 2023 May 22.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 9010410 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Prophylactic Intramedullary Rodding After Femoral Lengthening in Patients With Achondroplasia and Hypochondroplasia.

Subjects: Achondroplasia*/Achondroplasia*/Achondroplasia*/complications ; Femoral Fractures*/Femoral Fractures*/Femoral Fractures*/surgery ; Bone Lengthening*/Bone Lengthening*/Bone Lengthening*/methods Hypochondroplasia

  • Source: Journal of pediatric orthopedics [J Pediatr Orthop] 2024 Mar 01; Vol. 44 (3), pp. e249-e254. Date of Electronic Publication: 2023 Dec 12.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 8109053 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

High-Resolution Melting Analysis for Rapid Detection of Mutations in Patients with FGFR3 -Related Skeletal Dysplasias.

  • Authors : Riba FRG; Laboratório de Medicina Genômica and Centro de Genética Médica-Serviço de Referência em Doenças Raras/IFF/FIOCRUZ, Rio de Janeiro, Brasil.; Gomes MES

Subjects: Achondroplasia/Achondroplasia/Achondroplasia/*diagnosis ; Bone and Bones/Bone and Bones/Bone and Bones/*abnormalities ; DNA Mutational Analysis/DNA Mutational Analysis/DNA Mutational Analysis/*methods Hypochondroplasia

  • Source: Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2021 Oct; Vol. 25 (10), pp. 674-682.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101494210 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Earlier detection of hypochondroplasia: A large single-center UK case series and systematic review.

  • Authors : Sabir AH; Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.; Department of Clinical Genetics, Birmingham Women's and Children's Hospital NHS Trust & Birmingham Health Partners, Birmingham, UK.

Subjects: Early Diagnosis*; Achondroplasia/Achondroplasia/Achondroplasia/*diagnosis ; Bone and Bones/Bone and Bones/Bone and Bones/*abnormalities Hypochondroplasia

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Jan; Vol. 185 (1), pp. 73-82. Date of Electronic Publication: 2020 Oct 14.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

p.Ser348Cys mutation in FGFR3 gene leads to "Mild ACH /Severe HCH" phenotype.

  • Authors : Bengur FB; Acibadem Mehmet Ali Aydinlar University School of Medicine, Istanbul, Turkey.; Ekmekci CG

Subjects: Achondroplasia/Achondroplasia/Achondroplasia/*diagnosis ; Achondroplasia/Achondroplasia/Achondroplasia/*genetics ; Bone and Bones/Bone and Bones/Bone and Bones/*abnormalities Hypochondroplasia

  • Source: European journal of medical genetics [Eur J Med Genet] 2020 Feb; Vol. 63 (2), pp. 103659. Date of Electronic Publication: 2019 Apr 30.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Total knee arthroplasty in a pseudoachondroplastic dwarfism patient with bilateral patellar dislocation.

  • Authors : Oh KJ; Department of Orthopedic Surgery, KonKuk University Medical Center, Konkuk University School of Medicine, Seoul, Republic of Korea.; Yoon JR

Subjects: Achondroplasia/Achondroplasia/Achondroplasia/*surgery ; Arthroplasty, Replacement, Knee/Arthroplasty, Replacement, Knee/Arthroplasty, Replacement, Knee/*methods ; Dwarfism/Dwarfism/Dwarfism/*surgery Pseudoachondroplasia

  • Source: The Knee [Knee] 2013 Jan; Vol. 20 (1), pp. 45-8. Date of Electronic Publication: 2012 Nov 22.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 9430798 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.

  • Authors : Couser NL; Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina.; Department of Ophthalmology, University of North Carolina School of Medicine, Chapel Hill, North Carolina.

Subjects: Point Mutation*; Acanthosis Nigricans/Acanthosis Nigricans/Acanthosis Nigricans/*genetics ; Achondroplasia/Achondroplasia/Achondroplasia/*genetics Hypochondroplasia

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2017 Apr; Vol. 173 (4), pp. 1097-1101. Date of Electronic Publication: 2017 Feb 09.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A loss-of-function mutation in natriuretic peptide receptor 2 (Npr2) gene is responsible for disproportionate dwarfism in cn/cn mouse.

  • Authors : Tsuji T; Graduate School of Natural Science and Technology, Okayama University, 1-1-1, Tsushima-naka, Okayama 700-8530, Japan. ; Kunieda T

Subjects: Mice, Mutant Strains* ; Mutation, Missense*; Achondroplasia/Achondroplasia/Achondroplasia/*genetics

  • Source: The Journal of biological chemistry [J Biol Chem] 2005 Apr 08; Vol. 280 (14), pp. 14288-92. Date of Electronic Publication: 2005 Feb 18.Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication

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Academic Journal

Low bone mineral density in achondroplasia and hypochondroplasia.

  • Authors : Matsushita M; Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan.; Kitoh H

Subjects: Achondroplasia/Achondroplasia/Achondroplasia/*diagnosis ; Bone Density/Bone Density/Bone Density/*physiology ; Bone and Bones/Bone and Bones/Bone and Bones/*abnormalities Hypochondroplasia

  • Source: Pediatrics international : official journal of the Japan Pediatric Society [Pediatr Int] 2016 Aug; Vol. 58 (8), pp. 705-8. Date of Electronic Publication: 2016 Apr 05.Publisher: Blackwell Science Asia Country of Publication: Australia NLM ID: 100886002 Publication Model: Print-Electronic Cited Medium: Internet

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  • 1-10 of  1,790 results for ""DWARFISM""