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Academic Journal

Outcomes of late-stages infantile Blount's disease managed by acute single stage: medial hemi-plateau elevation and metaphyseal osteotomy. Eight case series.

  • Authors : Chandankere V; KIMS-Sunshine Hospitals.; Udaiomni Hospitals.

Subjects: Osteotomy*/Osteotomy*/Osteotomy*/methods ; Bone Diseases, Developmental*/Bone Diseases, Developmental*/Bone Diseases, Developmental*/surgery ; Osteochondrosis*/Osteochondrosis*/Osteochondrosis*/surgery Blount disease

  • Source: Journal of pediatric orthopedics. Part B [J Pediatr Orthop B] 2024 Nov 01; Vol. 33 (6), pp. 560-567. Date of Electronic Publication: 2023 Nov 16.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 9300904 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

The Reliability of Ultrasound Markers in Identifying Fetuses With a Life-Limiting Skeletal Dysplasia.

  • Authors : Crane HM; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Schindewolf E

Subjects: Ultrasonography, Prenatal*/Ultrasonography, Prenatal*/Ultrasonography, Prenatal*/statistics & numerical data ; Bone Diseases, Developmental*/Bone Diseases, Developmental*/Bone Diseases, Developmental*/diagnostic imaging ; Bone Diseases, Developmental*/Bone Diseases, Developmental*/Bone Diseases, Developmental*/genetics

  • Source: Prenatal diagnosis [Prenat Diagn] 2024 Oct; Vol. 44 (11), pp. 1318-1326. Date of Electronic Publication: 2024 Jul 30.Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223

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Academic Journal

Molecular analysis of 31 cases with fetal skeletal dysplasia.

  • Authors : Taşdemir Ü; Department of Obstetrics, Division of Perinatology, Zeynep Kamil Women and Children Diseases Education and Research Hospital, Istanbul, Türkiye.; Eyisoy ÖG

Subjects: Ultrasonography, Prenatal* ; Bone Diseases, Developmental*/Bone Diseases, Developmental*/Bone Diseases, Developmental*/genetics ; Bone Diseases, Developmental*/Bone Diseases, Developmental*/Bone Diseases, Developmental*/diagnosis

  • Source: Journal of perinatal medicine [J Perinat Med] 2024 Aug 02; Vol. 52 (8), pp. 886-895. Date of Electronic Publication: 2024 Aug 02 (Print Publication: 2024).Publisher: Walter De Gruyter Country of Publication: Germany NLM ID: 0361031 Publication Model: Electronic-Print Cited Medium: Internet ISSN:

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Academic Journal

Geleophysic dysplasia and Weill-Marchesani syndrome: ADAMTSL2 a possible common gene.

  • Authors : Duzenli T; Faculty of Medicine, Department of Medical Genetics, Gazi University, Ankara, Turkey.; Uysal BS

Subjects: Weill-Marchesani Syndrome*/Weill-Marchesani Syndrome*/Weill-Marchesani Syndrome*/genetics ; ADAMTS Proteins*/ADAMTS Proteins*/ADAMTS Proteins*/genetics ; Ectopia Lentis*/Ectopia Lentis*/Ectopia Lentis*/genetics Microspherophakia; Acromicric dysplasia

  • Source: Ophthalmic genetics [Ophthalmic Genet] 2024 Oct; Vol. 45 (5), pp. 499-505. Date of Electronic Publication: 2024 Jul 24.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Fetal Skeletal Dysplasia.

  • Authors : Kline-Fath BM; Department of Radiology, M.L. 5031, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA. Electronic address: .

Subjects: Bone Diseases, Developmental*/Bone Diseases, Developmental*/Bone Diseases, Developmental*/diagnostic imaging ; Magnetic Resonance Imaging*/Magnetic Resonance Imaging*/Magnetic Resonance Imaging*/methods ; Prenatal Diagnosis*/Prenatal Diagnosis*/Prenatal Diagnosis*/methods

  • Source: Magnetic resonance imaging clinics of North America [Magn Reson Imaging Clin N Am] 2024 Aug; Vol. 32 (3), pp. 497-511. Date of Electronic Publication: 2024 Mar 27.Publisher: Saunders Country of Publication: United States NLM ID: 9422762 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A genetic mouse model mimicking MET related human osteofibrous dysplasia is characterized by delays in fracture repair and defective osteogenesis.

  • Authors : Hong G; Traumatology & Orthopedics Institute, Guangzhou University of Chinese Medicine, Guangzhou, Guangdong, P.R. China.; Department of Orthopedic, the Third Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangzhou, Guangdong, P.R. China.

Subjects: Osteogenesis*/Osteogenesis*/Osteogenesis*/genetics ; Proto-Oncogene Proteins c-met*/Proto-Oncogene Proteins c-met*/Proto-Oncogene Proteins c-met*/genetics ; Proto-Oncogene Proteins c-met*/Proto-Oncogene Proteins c-met*/Proto-Oncogene Proteins c-met*/metabolism Osteofibrous Dysplasia

  • Source: FASEB journal : official publication of the Federation of American Societies for Experimental Biology [FASEB J] 2024 Jul 31; Vol. 38 (14), pp. e23810.Publisher: Federation of American Societies for Experimental Biology Country of Publication: United States NLM ID: 8804484 Publication Model: Print Cited

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Academic Journal

Allogeneic bone marrow transplantation in craniometaphyseal dysplasia.

  • Authors : Morelle G; Unité d'Immunologie, d'Hématologie et de Rhumatologie Pédiatriques, Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Université Paris Cité, Paris, France; Centre de Référence de l'Hémophilie et des Maladies Hémorragiques Constitutionnelles, Assistance Publique-Hôpitaux de Paris, Hôpital Bicêtre, Université Paris-Saclay, Le Kremlin-Bicêtre, France.

Subjects: Bone Diseases, Developmental*/Bone Diseases, Developmental*/Bone Diseases, Developmental*/surgery ; Bone Diseases, Developmental*/Bone Diseases, Developmental*/Bone Diseases, Developmental*/diagnostic imaging ; Bone Marrow Transplantation*/Bone Marrow Transplantation*/Bone Marrow Transplantation*/methodsSchwartz-Lelek syndrome

  • Source: Lancet (London, England) [Lancet] 2024 May 11; Vol. 403 (10439), pp. 1893-1894.Publisher: Elsevier Country of Publication: England NLM ID: 2985213R Publication Model: Print Cited Medium: Internet ISSN: 1474-547X (Electronic)

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Academic Journal

Outcomes after completing growth-friendly surgical treatment for early-onset scoliosis in patients with skeletal dysplasia.

Subjects: Scoliosis*/Scoliosis*/Scoliosis*/surgery ; Quality of Life* ; Bone Diseases, Developmental*/Bone Diseases, Developmental*/Bone Diseases, Developmental*/surgery

  • Source: The bone & joint journal [Bone Joint J] 2024 Jun 01; Vol. 106-B (6), pp. 596-602. Date of Electronic Publication: 2024Publisher: British Editorial Society of Bone & Joint Surgery Country of Publication: England NLM ID: 101599229 Publication Model:

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Academic Journal

Hao-Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum.

Subjects: Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/genetics ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/complications ; Abnormalities, Multiple*/Abnormalities, Multiple*/Abnormalities, Multiple*/genetics Fountain syndrome

  • Source: Clinical genetics [Clin Genet] 2024 May; Vol. 105 (5), pp. 499-509. Date of Electronic Publication: 2024 Jan 14.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004

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Report

Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencing.

Subjects: Sotos Syndrome*/Sotos Syndrome*/Sotos Syndrome*/genetics ; Megalencephaly*/Megalencephaly*/Megalencephaly*/genetics ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/genetics Marshall-Smith syndrome

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 May; Vol. 194 (5), pp. e63516. Date of Electronic Publication: 2024 Jan 02.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  5,975 results for ""Bone Diseases, Developmental""