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Content Provider : MEDLINE فلترة بواسطة : موضوع
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Academic Journal

Morphological and sensorimotor phenotypes in a zebrafish CHARGE syndrome model are domain-dependent.

  • Authors : Hodorovich DR; Department of Biological Sciences, North Carolina State University, Raleigh, North Carolina, USA.; Lindsley PM

Subjects: CHARGE Syndrome*/CHARGE Syndrome*/CHARGE Syndrome*/genetics ; CHARGE Syndrome*/CHARGE Syndrome*/CHARGE Syndrome*/metabolism; Animals

  • Source: Genes, brain, and behavior [Genes Brain Behav] 2023 Jun; Vol. 22 (3), pp. e12839. Date of Electronic Publication: 2023 Jan 30.Publisher: Munksgaard Country of Publication: England NLM ID: 101129617 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Deletion of the chd7 Hinders Oligodendrocyte Progenitor Cell Development and Myelination in Zebrafish.

  • Authors : Shi L; Center for Advanced Interdisciplinary Science and Biomedicine of IHM, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230026, China.; Wang Z

Subjects: CHARGE Syndrome*/CHARGE Syndrome*/CHARGE Syndrome*/genetics ; Oligodendrocyte Precursor Cells*; Animals

  • Source: International journal of molecular sciences [Int J Mol Sci] 2023 Aug 31; Vol. 24 (17). Date of Electronic Publication: 2023 Aug 31.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report.

  • Authors : Obata Y; Department of Diabetes and Endocrinology, Osaka Police Hospital, 10-31 Kitayama-Cho, Tennojiku, Osaka, 543-0035, Japan.; Takayama K

Subjects: CHARGE Syndrome*/CHARGE Syndrome*/CHARGE Syndrome*/diagnosis ; CHARGE Syndrome*/CHARGE Syndrome*/CHARGE Syndrome*/genetics ; Hypopituitarism*/Hypopituitarism*/Hypopituitarism*/genetics Combined Pituitary Hormone Deficiency

  • Source: BMC endocrine disorders [BMC Endocr Disord] 2023 May 25; Vol. 23 (1), pp. 118. Date of Electronic Publication: 2023 May 25.Publisher: BioMed Central Country of Publication: England NLM ID: 101088676 Publication Model: Electronic Cited Medium: Internet ISSN: 1472-6823

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Academic Journal

Predicting the clinical trajectory of feeding and swallowing abilities in CHARGE syndrome.

  • Authors : Onesimo R; Center for Rare Diseases, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A, Gemelli-IRCCS, 00168, Rome, Italy.; Università Cattolica del Sacro Cuore, Largo Vito 1, 00168, Rome, Italy.

Subjects: CHARGE Syndrome*/CHARGE Syndrome*/CHARGE Syndrome*/complications ; Deglutition Disorders*/Deglutition Disorders*/Deglutition Disorders*/etiology; Child

  • Source: European journal of pediatrics [Eur J Pediatr] 2023 Apr; Vol. 182 (4), pp. 1869-1877. Date of Electronic Publication: 2023 Feb 17.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Characterization of Two Mouse Chd7 Heterozygous Loss-of-Function Models Shows Dysgenesis of the Corpus Callosum and Previously Unreported Features of CHARGE Syndrome.

  • Authors : Collins SC; Inserm UMR1231, University of Burgundy Franche-Comté, 15 Boulevard Maréchal de Lattre de Tassigny, 21070 Dijon, France.; Vancollie VE

Subjects: CHARGE Syndrome*/CHARGE Syndrome*/CHARGE Syndrome*/diagnosis ; CHARGE Syndrome*/CHARGE Syndrome*/CHARGE Syndrome*/genetics; DNA-Binding Proteins/DNA-Binding Proteins/DNA-Binding Proteins/*metabolism

  • Source: International journal of molecular sciences [Int J Mol Sci] 2022 Sep 29; Vol. 23 (19). Date of Electronic Publication: 2022 Sep 29.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Chromatin remodeler CHD7 targets active enhancer region to regulate cell type-specific gene expression in human neural crest cells.

  • Authors : Sanosaka T; Department of Physiology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.; Okuno H

Subjects: CHARGE Syndrome*/CHARGE Syndrome*/CHARGE Syndrome*/genetics ; Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/metabolism; Humans

  • Source: Scientific reports [Sci Rep] 2022 Dec 31; Vol. 12 (1), pp. 22648. Date of Electronic Publication: 2022 Dec 31.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

CHARGE syndrome presenting with persistent hypoglycemia: case report and overview of the main genetic syndromes associated with neonatal hypoglycemia.

  • Authors : Consales A; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, NICU, Milan, Italy.

Subjects: Adrenal Insufficiency* ; CHARGE Syndrome*/CHARGE Syndrome*/CHARGE Syndrome*/complications ; CHARGE Syndrome*/CHARGE Syndrome*/CHARGE Syndrome*/diagnosis

  • Source: Italian journal of pediatrics [Ital J Pediatr] 2022 Aug 20; Vol. 48 (1), pp. 154. Date of Electronic Publication: 2022 Aug 20.Publisher: BioMed Central Country of Publication: England NLM ID: 101510759 Publication Model: Electronic Cited Medium: Internet ISSN: 1824-7288

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Academic Journal

Affordances for Motor Development in the Home Environment for Young Children with and without CHARGE Syndrome.

  • Authors : Beach P; Department of Kinesiology, Physical Education, Sport Studies, State University of New York Brockport, Brockport, NY 14420, USA.; Perreault M

Subjects: CHARGE Syndrome*/CHARGE Syndrome*/CHARGE Syndrome*/epidemiology ; Deaf-Blind Disorders*; Adolescent

  • Source: International journal of environmental research and public health [Int J Environ Res Public Health] 2021 Nov 13; Vol. 18 (22). Date of Electronic Publication: 2021 Nov 13.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101238455 Publication Model: Electronic Cited Medium: Internet ISSN: 1660-4601

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Academic Journal

Diagnostics and therapy of bilateral choanal atresia in association with CHARGE syndrome.

  • Authors : Koppen T; Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital Bonn, Germany.; Bartmann D

Subjects: Stents*; CHARGE Syndrome/CHARGE Syndrome/CHARGE Syndrome/*diagnosis ; CHARGE Syndrome/CHARGE Syndrome/CHARGE Syndrome/*surgery

  • Source: Journal of neonatal-perinatal medicine [J Neonatal Perinatal Med] 2021; Vol. 14 (1), pp. 67-74.Publisher: IOS Press Country of Publication: Netherlands NLM ID: 101468335 Publication Model: Print Cited Medium: Internet ISSN: 1878-4429

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Academic Journal

Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients.

  • Authors : Abadie V; Faculty of Medicine, University of Paris, Paris, France. .; Department of Paediatrics, Necker-Enfants Malades University Hospital, AP-HP, Paris, France. .

Subjects: Autism Spectrum Disorder*/Autism Spectrum Disorder*/Autism Spectrum Disorder*/diagnosis ; Autistic Disorder* ; CHARGE Syndrome*/CHARGE Syndrome*/CHARGE Syndrome*/diagnosis

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Jun 03; Vol. 15 (1), pp. 136. Date of Electronic Publication: 2020 Jun 03.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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  • 1-10 of  1,946 نتائج ل ""Charge""