المؤلفون: Balakrishnan S; Apollo Hospitals, Jubilee Hills, Hyderabad, India. Electronic address: gierra@gmail.com., Goud I; Apollo Hospitals, Jubilee Hills, Hyderabad, India. Electronic address: driravthy_g@apollohospitals.com., Teegala ML; Bhishak Fetal Medicine Center, Vijayawada, Andhra Pradesh, India. Electronic address: madhavi.teegala@gmail.com.

المصدر: European journal of medical genetics [Eur J Med Genet] 2024 Apr; Vol. 68, pp. 104929. Date of Electronic Publication: 2024 Feb 28.

نوع المنشور: Case Reports; Journal Article; Review

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Anodontia* , Optic Atrophies, Hereditary*, Child, Preschool ; Female ; Humans ; Pregnancy ; Alopecia ; Growth Disorders/genetics ; Microfilament Proteins ; Phenotype ; Rare Diseases ; Receptors, Cell Surface

SCR Disease Name: Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy

المؤلفون: Gupta V; Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi., Panigrahi A; Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi., Somarajan BI; Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi., Gupta S; Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi., Tripathy K; Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi., Singh A; Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi., Sharma A; Department of Anatomy, All India Institute of Medical Sciences, New Delhi., Tandon R; Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi., Pradhan D; Department of Biomedical Informatics, Indian Council of Medical Research, New Delhi., Sharma A; Department of Anatomy, All India Institute of Medical Sciences, New Delhi., Kushwaha T; Department of Biophysics, All India Institute of Medical Sciences, New Delhi., Inampudi KK; Department of Biophysics, All India Institute of Medical Sciences, New Delhi.

المصدر: Molecular vision [Mol Vis] 2023 Dec 26; Vol. 29, pp. 365-377. Date of Electronic Publication: 2023 Dec 26 (Print Publication: 2023).

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Molecular Vision Country of Publication: United States NLM ID: 9605351 Publication Model: eCollection Cited Medium: Internet ISSN: 1090-0535 (Electronic) Linking ISSN: 10900535 NLM ISO Abbreviation: Mol Vis Subsets: MEDLINE

مواضيع طبية MeSH: Glaucoma, Open-Angle*/genetics , Glaucoma*/genetics , Glaucoma*/congenital , Hydrophthalmos* , Transforming Growth Factor beta* , Alopecia* , Growth Disorders* , Optic Atrophies, Hereditary* , Extracellular Matrix Proteins* , Anodontia*, Female ; Humans ; Child ; Mutation/genetics ; Pedigree ; Microfilament Proteins/genetics ; Receptors, Cell Surface/genetics

SCR Disease Name: Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy; Early-Onset Glaucoma

المؤلفون: Damagatla M; VST Centre for Glaucoma Services, LV Prasad Eye Institute, Hyderabad, India., Verma A; Institute of Rare Eye Diseases and Ocular Genetics, LV Prasad Eye Institute, Hyderabad, India., Pochaboina V; Institute of Rare Eye Diseases and Ocular Genetics, LV Prasad Eye Institute, Hyderabad, India., Bhate M; Strabismus, Paediatric and Neuro-Ophthalmology Services (MB), Jasti V Ramanamma Children's Eye Care Center, LV Prasad Eye Institute, Hyderabad, India., Senthil S; VST Centre for Glaucoma Services, LV Prasad Eye Institute, Hyderabad, India.

المصدر: Ophthalmic genetics [Ophthalmic Genet] 2024 Aug; Vol. 45 (4), pp. 395-400. Date of Electronic Publication: 2024 May 01.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE

مواضيع طبية MeSH: Growth Disorders*/genetics , Growth Disorders*/pathology , Alopecia*/genetics , Alopecia*/diagnosis , Anodontia*/genetics , Anodontia*/diagnosis , Anodontia*/pathology , Pedigree*, Humans ; Male ; Female ; Exome Sequencing ; Child ; Optic Atrophies, Hereditary/genetics ; Optic Atrophies, Hereditary/diagnosis ; Child, Preschool ; Microfilament Proteins ; Receptors, Cell Surface

SCR Disease Name: Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy

المؤلفون: Özer S; Department of Otolaryngology, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Külekci Ç

المصدر: The Journal of craniofacial surgery [J Craniofac Surg] 2024 Jul-Aug 01; Vol. 35 (5), pp. e472-e474. Date of Electronic Publication: 2024 May 29.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 9010410 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1536-3732 (Electronic) Linking ISSN: 10492275 NLM ISO Abbreviation: J Craniofac Surg Subsets: MEDLINE

مواضيع طبية MeSH: Decompression, Surgical*/methods, Humans ; Male ; Young Adult ; Constriction, Pathologic/surgery ; Optic Nerve Diseases/surgery ; Endoscopy/methods ; Intellectual Disability/complications ; Alopecia ; Anodontia ; Growth Disorders ; Optic Atrophies, Hereditary

SCR Disease Name: Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy

المؤلفون: Gerber S; IHU Imagine - Institut des Maladies Génétiques, Laboratoire de Génétique Ophtalmologique (LGO), Université Paris Descartes, Paris, France., Lessard L; Service d'Electroneuromyographie et Pathologies Neuromusculaires, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Bron, France., Rouzier C; Service de Génétique, Hôpital l'Archet 2, CHU de Nice, Nice, France.; Université Côte d'Azur, CHU, Inserm, CNRS, IRCAN, Nice, France., Ait-El-Mkadem Saadi S; Service de Génétique, Hôpital l'Archet 2, CHU de Nice, Nice, France.; Université Côte d'Azur, CHU, Inserm, CNRS, IRCAN, Nice, France., Ameli R; Service de Neuroradiologie, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Bron, France., Thobois S; Service de Neurologie C - Troubles du Mouvement et Pathologies Neuromusculaires, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Bron, France., Abouaf L; Cabinet d'Ophtalmologie des Tullistes, Ecully, France., Bouhour F; Service d'Electroneuromyographie et Pathologies Neuromusculaires, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Bron, France., Kaplan J; IHU Imagine - Institut des Maladies Génétiques, Laboratoire de Génétique Ophtalmologique (LGO), Université Paris Descartes, Paris, France., Putoux A; Unité de Génétique Clinique, Service de Génétique, Centre Labellisé Anomalies du Développement, Hospices Civils de Lyon, Bron, France.; Centre de Recherche en Neurosciences de Lyon, Equipe GENDEV, INSERM U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, Bron, France., Pegat A; Service d'Electroneuromyographie et Pathologies Neuromusculaires, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Bron, France.; Service de Neurologie C - Troubles du Mouvement et Pathologies Neuromusculaires, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Bron, France., Rozet JM; IHU Imagine - Institut des Maladies Génétiques, Laboratoire de Génétique Ophtalmologique (LGO), Université Paris Descartes, Paris, France.

المصدر: EMBO molecular medicine [EMBO Mol Med] 2023 Aug 07; Vol. 15 (8), pp. e16090. Date of Electronic Publication: 2023 Jul 11.

نوع المنشور: Letter; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE

مواضيع طبية MeSH: Cell Cycle Proteins*/genetics , Optic Atrophies, Hereditary*, Humans ; Cytoskeletal Proteins/genetics ; Mutation

المؤلفون: Gál A; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary., Santos JH; Mechanistic Toxicology Branch, Division of the National Toxicology Program (DNTP), National Institute of Environmental Health Sciences (NIEHS), National Institutes of Health (NIH), Research Triangle Park, NC, USA., Molnár MJ; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary., Hajnóczky G; MitoCare Center for Mitochondrial Imaging Research and Diagnostics, Department of Pathology, Anatomy and Cell Biology, Thomas Jefferson University, Philadelphia, PA, USA.

المصدر: EMBO molecular medicine [EMBO Mol Med] 2023 Aug 07; Vol. 15 (8), pp. e16251. Date of Electronic Publication: 2023 Jul 11.

نوع المنشور: Letter; Comment

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE

مواضيع طبية MeSH: Cytoskeletal Proteins*/genetics , Optic Atrophies, Hereditary*, Humans ; Mutation ; Cell Cycle Proteins/genetics ; Pedigree

المؤلفون: Przyklenk M; Center for Biochemistry, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany., Karmacharya S; Center for Biochemistry, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany., Bonasera D; Genetic Instability, Cell Death and Inflammation Laboratory, Center for Biochemistry, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany., Pasanen-Zentz AL; Center for Biochemistry, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany., Kmoch S; Research Unit of Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic., Paulsson M; Center for Biochemistry, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany., Wagener R; Center for Biochemistry, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany., Liccardi G; Genetic Instability, Cell Death and Inflammation Laboratory, Center for Biochemistry, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany., Schiavinato A; Center for Biochemistry, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany. aschiav1@uni-koeln.de.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany. aschiav1@uni-koeln.de.; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany. aschiav1@uni-koeln.de.

المصدر: Scientific reports [Sci Rep] 2024 Apr 23; Vol. 14 (1), pp. 9321. Date of Electronic Publication: 2024 Apr 23.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: Fibroblasts*/metabolism , Cellular Senescence*/genetics , Alopecia*/metabolism , Alopecia*/pathology , Alopecia*/genetics , Anodontia* , Growth Disorders* , Microfilament Proteins*, Humans ; Receptors, Cell Surface/metabolism ; Receptors, Cell Surface/genetics ; Receptors, Cell Surface/deficiency ; Optic Atrophies, Hereditary/genetics ; Optic Atrophies, Hereditary/metabolism ; Actins/metabolism ; Progeria/genetics ; Progeria/pathology ; Progeria/metabolism

SCR Disease Name: Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy

المؤلفون: van Renterghem V; Department of Ophthalmology, University Hospitals Leuven, Leuven, Belgium., Vilain C; Department of Genetics, University Hospital Erasme, Brussels, Belgium., Devriendt K; Department of Genetics, University Hospitals Leuven, Leuven, Belgium., Casteels I; Department of Ophthalmology, University Hospitals Leuven, Leuven, Belgium., Smits G; Department of Genetics, University Hospital Erasme, Brussels, Belgium., Soblet J; Department of Genetics, University Hospital Erasme, Brussels, Belgium., Balikova I; Department of Ophthalmology, University Hospitals Leuven, Leuven, Belgium. Electronic address: Irina.Balikova@uzleuven.be.

المصدر: European journal of medical genetics [Eur J Med Genet] 2023 Apr; Vol. 66 (4), pp. 104729. Date of Electronic Publication: 2023 Feb 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/genetics , Optic Atrophies, Hereditary*/genetics , Optic Atrophy*/genetics, Male ; Humans ; Siblings ; Mosaicism

المؤلفون: Wei Y; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing Shuaifuyuan 1, Dongcheng District, Beijing, 100730, People's Republic of China. yp924@sina.com., Qian M; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing Shuaifuyuan 1, Dongcheng District, Beijing, 100730, People's Republic of China., Yang Y; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing Shuaifuyuan 1, Dongcheng District, Beijing, 100730, People's Republic of China.

المصدر: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2022 Dec; Vol. 43 (12), pp. 6997-7000. Date of Electronic Publication: 2022 Jul 31.

نوع المنشور: Letter

بيانات الدورية: Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Leigh Disease*/diagnostic imaging , Leigh Disease*/genetics , Optic Atrophies, Hereditary*, Humans ; Adult ; Mutation/genetics ; Spinal Cord/diagnostic imaging ; DNA, Mitochondrial/genetics

SCR Disease Name: Necrotizing Encephalomyelopathy, Subacute, of Leigh, Adult

المؤلفون: Sun Y; Graduate School of Xuzhou Medical University, Jiangsu Xuzhou, China.; Department of Prenatal Diagnosis Medical Center, Xuzhou Central Hospital, Xuzhou Clinical School of Xuzhou Medical University, Xuzhou, Jiangsu, China.; Department of obstetrics, Fengxian People's Hospital, Xuzhou, Jiangsu, China., Guo L; Department of Prenatal Diagnosis Medical Center, Xuzhou Central Hospital, Xuzhou Clinical School of Xuzhou Medical University, Xuzhou, Jiangsu, China.; Graduate School of Bengbu Medical College, Bengbu, Anhui, China., Sha J; Department of Prenatal Diagnosis Medical Center, Xuzhou Central Hospital, Xuzhou Clinical School of Xuzhou Medical University, Xuzhou, Jiangsu, China., Tao H; Graduate School of Xuzhou Medical University, Jiangsu Xuzhou, China.; Department of Prenatal Diagnosis Medical Center, Xuzhou Central Hospital, Xuzhou Clinical School of Xuzhou Medical University, Xuzhou, Jiangsu, China., Wang X; Department of Prenatal Diagnosis Medical Center, Xuzhou Central Hospital, Xuzhou Clinical School of Xuzhou Medical University, Xuzhou, Jiangsu, China.; Graduate School of Bengbu Medical College, Bengbu, Anhui, China., Liu Y; Department of Prenatal Diagnosis Medical Center, Xuzhou Central Hospital, Xuzhou Clinical School of Xuzhou Medical University, Xuzhou, Jiangsu, China., Zhai J; Graduate School of Xuzhou Medical University, Jiangsu Xuzhou, China.; Department of Prenatal Diagnosis Medical Center, Xuzhou Central Hospital, Xuzhou Clinical School of Xuzhou Medical University, Xuzhou, Jiangsu, China., Wu J; Graduate School of Xuzhou Medical University, Jiangsu Xuzhou, China.; Department of Prenatal Diagnosis Medical Center, Xuzhou Central Hospital, Xuzhou Clinical School of Xuzhou Medical University, Xuzhou, Jiangsu, China., Zhao Y; Department of laboratory, Taixing Maternity and Child Health Care Hospital, Taixing, Jiangsu, China.

المصدر: Medicine [Medicine (Baltimore)] 2022 Oct 07; Vol. 101 (40), pp. e30558.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN: 1536-5964 (Electronic) Linking ISSN: 00257974 NLM ISO Abbreviation: Medicine (Baltimore) Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/diagnosis , Intellectual Disability*/genetics , Optic Atrophies, Hereditary*/genetics , Optic Atrophy*/genetics, Adult ; COUP Transcription Factor I/genetics ; DNA Copy Number Variations ; Female ; Fetus ; Heart Ventricles ; Humans ; Pregnancy ; Ultrasonography, Prenatal