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Academic Journal

Olfactory bulb anomalies in KBG syndrome mouse model and patients.

  • Authors : Goodkey K; Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, AB, T6G 2H7, Canada.; Women and Children's Health Research Institute, University of Alberta, 5-083 Edmonton Clinic Health Academy, Edmonton, AB, T6G 1C9, Canada.

Subjects: Abnormalities, Multiple* ; Intellectual Disability* ; Tooth Abnormalities* KBG syndrome

  • Source: BMC medicine [BMC Med] 2024 Apr 15; Vol. 22 (1), pp. 158. Date of Electronic Publication: 2024 Apr 15.Publisher: BioMed Central Country of Publication: England NLM ID: 101190723 Publication Model: Electronic Cited Medium: Internet ISSN: 1741-7015

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Academic Journal

Ocular manifestations in a cohort of 43 patients with KBG syndrome.

  • Authors : Carter DC; Department of Human Genetics, NYS Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.; Kierzkowska O

Subjects: Abnormalities, Multiple*/Abnormalities, Multiple*/Abnormalities, Multiple*/diagnosis ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/diagnosis ; Bone Diseases, Developmental*/Bone Diseases, Developmental*/Bone Diseases, Developmental*/diagnosis KBG syndrome

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Apr; Vol. 194 (4), pp. e63473. Date of Electronic Publication: 2023 Nov 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

CATSHL syndrome, a new family and phenotypic expansion.

Subjects: Scoliosis*/Scoliosis*/Scoliosis*/genetics ; Hearing Loss*/Hearing Loss*/Hearing Loss*/genetics ; Bone Diseases, Developmental* CATSHL syndrome; Lacrimoauriculodentodigital syndrome

  • Source: Clinical genetics [Clin Genet] 2024 Mar; Vol. 105 (3), pp. 313-316. Date of Electronic Publication: 2023 Nov 22.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004

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Academic Journal

Epilepsy in KBG Syndrome: Report of Additional Cases.

  • Authors : Whitney R; Division of Neurology, Department of Paediatrics, McMaster University, Hamilton, Ontario, Canada.; Komar M

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

  • Source: Pediatric neurology [Pediatr Neurol] 2024 Feb; Vol. 151, pp. 138-142. Date of Electronic Publication: 2023 Dec 14.Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.

  • Authors : Buijsse N; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Jansen FE

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

  • Source: Epilepsia open [Epilepsia Open] 2023 Dec; Vol. 8 (4), pp. 1300-1313. Date of Electronic Publication: 2023 Aug 18.Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101692036 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.

  • Authors : Peluso F; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy.; Caraffi SG

Subjects: Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/diagnosis ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/genetics ; Abnormalities, Multiple*/Abnormalities, Multiple*/Abnormalities, Multiple*/diagnosis KBG syndrome

  • Source: Journal of medical genetics [J Med Genet] 2023 Nov 27; Vol. 60 (12), pp. 1224-1234. Date of Electronic Publication: 2023 Nov 27.Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Single variant, yet "double trouble": TSC and KBG syndrome because of a large de novo inversion.

  • Authors : Rodrigues Alves Barbosa V; Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada.; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada.

Subjects: Abnormalities, Multiple* ; Intellectual Disability* ; Bone Diseases, Developmental* KBG syndrome

  • Source: Life science alliance [Life Sci Alliance] 2024 Jan 22; Vol. 7 (4). Date of Electronic Publication: 2024 Jan 22 (Print Publication: 2024).Publisher: Life Science Alliance, LLC Country of Publication: United States NLM ID: 101728869 Publication Model: Electronic-Print Cited Medium: Internet

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Editorial & Opinion

Identification of Two Novel ANKRD11 Mutations: Highlighting Incomplete Penetrance in KBG Syndrome.

  • Authors : Amllal N; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.; Department of Medical Genetics, National Institute of Health, Rabat, Morocco.

Subjects: Abnormalities, Multiple* ; Intellectual Disability* ; Bone Diseases, Developmental* KBG syndrome

  • Source: Annals of laboratory medicine [Ann Lab Med] 2024 Jan 01; Vol. 44 (1), pp. 110-117. Date of Electronic Publication: 2023 Sep 04.Publisher: Korean Society for Laboratory Medicine Country of Publication: Korea (South) NLM ID: 101571172 Publication Model: Print-Electronic Cited Medium:

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Report

A case of early-onset Parkinson's disease in a patient with KBG syndrome.

  • Authors : Magistrelli L; Department of Translational Medicine, Section of Neurology, University of Piemonte Orientale and 'Maggiore della Carità' University Hospital, Novara, Italy. .; Contaldi E

Subjects: Abnormalities, Multiple* ; Intellectual Disability* ; Bone Diseases, Developmental* KBG syndrome

  • Source: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2023 Dec; Vol. 44 (12), pp. 4537-4539. Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Mandibular Involvement Associated With Segmental Odontomaxillary Dysplasia: A Case Series.

  • Authors : Thang T; Assistant Professor (Teaching Stream), Faculty of Dentistry, University of Toronto, Toronto, Ontario, Canada.; Johnson L

Subjects: Bone Diseases, Developmental* ; Malocclusion* ; Odontodysplasia*/Odontodysplasia*/Odontodysplasia*/diagnostic imaging

  • Source: Journal of dentistry for children (Chicago, Ill.) [J Dent Child (Chic)] 2023 Nov 15; Vol. 90 (3), pp. 168-172.Publisher: American Academy of Pediatric Dentistry Country of Publication: United States NLM ID: 101180951 Publication Model: Print Cited Medium:

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  • 1-10 of  104 results for ""Bone Diseases, Developmental""