المؤلفون: Cronemberger S; Hospital São Geraldo, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Albuquerque ALB; Department of Surgery, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Silva ACSE; Department of Pediatrics, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Zanini JLSS; Department of Anatomy and Imaging, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., da Silva AHG; Hospital São Geraldo, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Barbosa LF; Hospital São Geraldo, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., da Cunha Rubião F; Hospital São Geraldo, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., de Lima FL; Hospital São Geraldo, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Casimiro RF; Hospital São Geraldo, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Martins MP; Hospital São Geraldo, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Diniz-Filho A; Hospital São Geraldo, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Bastos-Rodrigues L; Department of Nutrition, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Friedman E; The Preventive Personalized Medicine Center, Assuta Medical Center and the Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel., De Marco L; Department of Surgery, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.

المصدر: Acta paediatrica (Oslo, Norway : 1992) [Acta Paediatr] 2024 Jun; Vol. 113 (6), pp. 1420-1425. Date of Electronic Publication: 2024 Feb 16.

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

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: Norway NLM ID: 9205968 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1651-2227 (Electronic) Linking ISSN: 08035253 NLM ISO Abbreviation: Acta Paediatr Subsets: MEDLINE

مواضيع طبية MeSH: Twins, Monozygotic*/genetics , WAGR Syndrome*/genetics , Aniridia*/genetics , Aniridia*/complications , Wilms Tumor*/genetics , Wilms Tumor*/complications , Corneal Opacity*/genetics, Humans ; Female ; Infant ; Anterior Eye Segment/abnormalities ; Anterior Eye Segment/diagnostic imaging ; Eye Abnormalities/genetics ; Eye Abnormalities/diagnostic imaging ; Eye Abnormalities/complications ; Diseases in Twins/genetics ; Kidney Neoplasms/genetics ; Kidney Neoplasms/diagnostic imaging ; Kidney Neoplasms/complications

SCR Disease Name: Peters anomaly

المؤلفون: Bano S; Department of Neurology, Mayo Hospital, King Edward Medical University, Lahore, Pakistan., Nawaz A; Department of Neurology, Mayo Hospital, King Edward Medical University, Lahore, Pakistan., Nasim A; Department of Neurology, Mayo Hospital, King Edward Medical University, Lahore, Pakistan., Numan A; Department of Neurology, Mayo Hospital, King Edward Medical University, Lahore, Pakistan., Zahid M; Department of Radiology, Doctor Hospital and Medical Centre, Lahore, Pakistan.

المصدر: Journal of the College of Physicians and Surgeons--Pakistan : JCPSP [J Coll Physicians Surg Pak] 2024 Feb; Vol. 34 (2), pp. 187-192.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: College of Physicians and Surgeons Pakistan Country of Publication: Pakistan NLM ID: 9606447 Publication Model: Print Cited Medium: Internet ISSN: 1681-7168 (Electronic) Linking ISSN: 1022386X NLM ISO Abbreviation: J Coll Physicians Surg Pak Subsets: MEDLINE

مواضيع طبية MeSH: Guillain-Barre Syndrome*/diagnosis , Respiratory Insufficiency* , Chromosome Deletion* , WAGR Syndrome* , Abnormalities, Multiple* , Limb Deformities, Congenital* , Mandibulofacial Dysostosis* , Micrognathism*, Humans ; Neutrophils ; Cross-Sectional Studies ; Biomarkers ; Lymphocytes ; Chromosomes, Human, Pair 11

SCR Disease Name: Chromosome 11p Deletion Syndrome; Genee-Wiedemann syndrome

المؤلفون: Marakhonov AV; Research Centre for Medical Genetics, Moscow 115522, Russia., Vasilyeva TA; Research Centre for Medical Genetics, Moscow 115522, Russia., Minzhenkova ME; Research Centre for Medical Genetics, Moscow 115522, Russia., Sukhanova NV; Research Centre for Medical Genetics, Moscow 115522, Russia., Sparber PA; Research Centre for Medical Genetics, Moscow 115522, Russia., Andreeva NA; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow 117997, Russia., Teleshova MV; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow 117997, Russia., Baybagisova FK; Medical Center 'Evromed', Cherkessk 369000, Russia., Shilova NV; Research Centre for Medical Genetics, Moscow 115522, Russia., Kutsev SI; Research Centre for Medical Genetics, Moscow 115522, Russia., Zinchenko RA; Research Centre for Medical Genetics, Moscow 115522, Russia.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2023 Nov 29; Vol. 24 (23). Date of Electronic Publication: 2023 Nov 29.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: WAGR Syndrome*/diagnosis , WAGR Syndrome*/genetics , WAGR Syndrome*/pathology , Aniridia*/diagnosis , Aniridia*/genetics , Wilms Tumor*/genetics , Kidney Neoplasms*/genetics, Male ; Humans ; Infant ; Chromosome Deletion ; Chromosomes, Human, Pair 11/genetics ; Chromosome Inversion

المؤلفون: Devaraj A; Pediatric Ophthalmology and Adult Strabismus Services, Aravind Eye Hospital, Madurai Tamil Nadu, India. Electronic address: drathira21@gmail.com., Shetty S; Pediatric Ophthalmology and Adult Strabismus Services, Aravind Eye Hospital, Madurai Tamil Nadu, India., Patnaik N; Pediatric Ophthalmology and Adult Strabismus Services, Aravind Eye Hospital, Madurai Tamil Nadu, India., Parida H; Vitreoretinal Services, Aravind Eye Hospital, Madurai Tamil Nadu, India., Pandurangan S; Pediatric Ophthalmology and Adult Strabismus Services, Aravind Eye Hospital, Madurai Tamil Nadu, India.

المصدر: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus [J AAPOS] 2023 Dec; Vol. 27 (6), pp. 357-359. Date of Electronic Publication: 2023 Sep 23.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9710011 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-3933 (Electronic) Linking ISSN: 10918531 NLM ISO Abbreviation: J AAPOS Subsets: MEDLINE

مواضيع طبية MeSH: WAGR Syndrome*/diagnosis , WAGR Syndrome*/genetics , WAGR Syndrome*/pathology , Aniridia*/diagnosis , Aniridia*/genetics , Aniridia*/pathology , Intellectual Disability*/genetics, Humans ; Chromosome Deletion ; Mutation

المؤلفون: Vasilyeva TA; Research Centre for Medical Genetics, 115522 Moscow, Russia., Marakhonov AV; Research Centre for Medical Genetics, 115522 Moscow, Russia., Voskresenskaya AA; Fyodorov Eye Microsurgery Federal State Institution Cheboksary Branch, 428028 Cheboksary, Russia., Kadyshev VV; Research Centre for Medical Genetics, 115522 Moscow, Russia., Sukhanova NV; Research Centre for Medical Genetics, 115522 Moscow, Russia., Minzhenkova ME; Research Centre for Medical Genetics, 115522 Moscow, Russia., Shilova NV; Research Centre for Medical Genetics, 115522 Moscow, Russia., Latyshova AA; Russian Research Institute of Health, 127254 Moscow, Russia., Ginter EK; Research Centre for Medical Genetics, 115522 Moscow, Russia., Kutsev SI; Research Centre for Medical Genetics, 115522 Moscow, Russia., Zinchenko RA; Research Centre for Medical Genetics, 115522 Moscow, Russia.

المصدر: Genes [Genes (Basel)] 2023 Nov 04; Vol. 14 (11). Date of Electronic Publication: 2023 Nov 04.

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

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia*/epidemiology , Aniridia*/genetics , WAGR Syndrome*/genetics, Humans ; Prevalence ; PAX6 Transcription Factor/genetics ; Chromosome Deletion

المؤلفون: Goodman CP; School of Medicine, Loma Linda University, Loma Linda, CA, USA., Park H; School of Medicine, Loma Linda University, Loma Linda, CA, USA., Mladenov GD; Division of Pediatric Surgery, Loma Linda University Children's Hospital, Loma Linda, CA, USA., Raymond SL; Division of Pediatric Surgery, Loma Linda University Children's Hospital, Loma Linda, CA, USA., Sundin A; Department of General Surgery, Loma Linda University, Loma Linda, CA, USA., Radulescu A; School of Medicine, Loma Linda University, Loma Linda, CA, USA.; Division of Pediatric Surgery, Loma Linda University Children's Hospital, Loma Linda, CA, USA., Khan FA; School of Medicine, Loma Linda University, Loma Linda, CA, USA.; Division of Pediatric Surgery, Loma Linda University Children's Hospital, Loma Linda, CA, USA.

المصدر: The American journal of case reports [Am J Case Rep] 2023 Mar 24; Vol. 24, pp. e938248. Date of Electronic Publication: 2023 Mar 24.

نوع المنشور: Review; Case Reports; Journal Article

بيانات الدورية: Publisher: International Scientific Information, Inc Country of Publication: United States NLM ID: 101489566 Publication Model: Electronic Cited Medium: Internet ISSN: 1941-5923 (Electronic) Linking ISSN: 19415923 NLM ISO Abbreviation: Am J Case Rep Subsets: MEDLINE

مواضيع طبية MeSH: Oculocerebrorenal Syndrome*/complications , Oculocerebrorenal Syndrome*/diagnosis , Oculocerebrorenal Syndrome*/genetics , Epidermal Cyst*/complications , Epidermal Cyst*/diagnosis , Epidermal Cyst*/surgery , Intellectual Disability*/complications , WAGR Syndrome*/complications, Male ; Humans ; Child ; Mutation

المؤلفون: Yaga T; Center for Postgraduate Education and Training, National Center for Child Health and Development (NCCHD), Tokyo, Japan., Iguchi A; Division of Hematology, NCCHD, Tokyo, Japan., Nakayama R; Division of Orthopedic Surgery, NCCHD, Tokyo, Japan.; Department of Orthopaedic Surgery, Keio University School of Medicine, Tokyo, Japan., Kosaki R; Division of Medical Genetics, NCCHD, Tokyo, Japan., Ishiguro A; Center for Postgraduate Education and Training, National Center for Child Health and Development (NCCHD), Tokyo, Japan.; Division of Hematology, NCCHD, Tokyo, Japan.

المصدر: Pediatrics international : official journal of the Japan Pediatric Society [Pediatr Int] 2023 Jan; Vol. 65 (1), pp. e15405.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Blackwell Science Asia Country of Publication: Australia NLM ID: 100886002 Publication Model: Print Cited Medium: Internet ISSN: 1442-200X (Electronic) Linking ISSN: 13288067 NLM ISO Abbreviation: Pediatr Int Subsets: MEDLINE

مواضيع طبية MeSH: Exostoses, Multiple Hereditary*/complications , Exostoses, Multiple Hereditary*/diagnosis , Exostoses, Multiple Hereditary*/genetics , WAGR Syndrome* , Chromosome Disorders*/genetics, Humans ; Chromosome Deletion

SCR Disease Name: Potocki-Shaffer syndrome

المؤلفون: Wang Q; State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou 510060, China., Zhang X; State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou 510060, China., Qin T; State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou 510060, China., Wang D; State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou 510060, China., Lin X; State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou 510060, China., Zhu Y; Aegicare, 3803 Building 11A, Shenzhen Bay Ecological Technology Park, Nanshan District, Shenzhen 518063, China., Tan H; Aegicare, 3803 Building 11A, Shenzhen Bay Ecological Technology Park, Nanshan District, Shenzhen 518063, China., Zhao L; State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou 510060, China., Li J; State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou 510060, China., Lin Z; State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou 510060, China., Lin H; State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou 510060, China., Chen W; State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou 510060, China.

المصدر: Genes [Genes (Basel)] 2022 Aug 12; Vol. 13 (8). Date of Electronic Publication: 2022 Aug 12.

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

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia*/genetics , Kidney Neoplasms*/genetics , WAGR Syndrome*/genetics , WAGR Syndrome*/pathology , Wilms Tumor*/genetics , Wilms Tumor*/pathology, Chromosome Deletion ; Humans ; Phenotype

المؤلفون: Bura A; Department of Biotechnology, University of Rijeka, Rijeka, Croatia., de Matteis MA; Telethon Institute of Genetics and Medicine, TIGEM, Pozzuoli, Naples, Italy.; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy., Bender M; Institute of Experimental Biomedicine, University Hospital Wuerzburg, Rudolf Virchow Center, Wuerzburg, Germany., Swinkels M; Erasmus MC University Medical Center, Rotterdam, the Netherlands., Versluis J; Erasmus MC University Medical Center, Rotterdam, the Netherlands., Jansen AJG; Erasmus MC University Medical Center, Rotterdam, the Netherlands., Jurak Begonja A; Department of Biotechnology, University of Rijeka, Rijeka, Croatia.

المصدر: British journal of haematology [Br J Haematol] 2023 Jan; Vol. 200 (1), pp. 87-99. Date of Electronic Publication: 2022 Sep 29.

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

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2141 (Electronic) Linking ISSN: 00071048 NLM ISO Abbreviation: Br J Haematol Subsets: MEDLINE

مواضيع طبية MeSH: Oculocerebrorenal Syndrome*/genetics , WAGR Syndrome*, Humans ; Actins ; Kidney/metabolism ; Mutation

SCR Disease Name: Chromosome 11p Deletion Syndrome

عنوان ترانسليتريتد: Protocole national de diagnostic et de soins (PNDS) de l’aniridie congénitale : synthèse pour le médecin traitant.

المؤلفون: Bremond-Gignac D; Service d'ophtalmologie, centre hospitalier universitaire Necker-Enfants Malades, AP-HP, université de Paris, 149, rue de Sèvres, 75015 Paris, France; Inserm 1138, T17, université de Paris, Paris, France; OPHTARA, Coordonnateur centre de maladies rares en ophtalmologie (CRMR), Filière Sensgene, centre hospitalier universitaire Necker-Enfants Malades, Paris, France. Electronic address: dominique.bremond@aphp.fr., Robert M; Service d'ophtalmologie, centre hospitalier universitaire Necker-Enfants Malades, AP-HP, université de Paris, 149, rue de Sèvres, 75015 Paris, France; OPHTARA, Coordonnateur centre de maladies rares en ophtalmologie (CRMR), Filière Sensgene, centre hospitalier universitaire Necker-Enfants Malades, Paris, France., Daruich A; Service d'ophtalmologie, centre hospitalier universitaire Necker-Enfants Malades, AP-HP, université de Paris, 149, rue de Sèvres, 75015 Paris, France; Inserm 1138, T17, université de Paris, Paris, France; OPHTARA, Coordonnateur centre de maladies rares en ophtalmologie (CRMR), Filière Sensgene, centre hospitalier universitaire Necker-Enfants Malades, Paris, France., Borderie V; Ophtalmologie, CHNO des XV-XX, Paris, France., Chiambaretta F; Ophtalmologie, CHU de Clermont-Ferrand, Clermont-Ferrand, France., Valleix S; Inserm 1138, T17, université de Paris, Paris, France; Laboratoire de génétique moléculaire, centre hospitalier universitaire Necker-Enfants Malades, AP-HP, université de Paris, Paris, France.

مؤلفون مشاركون: Groupe Rédacteur Relecteur PNDS Aniridie

المصدر: Journal francais d'ophtalmologie [J Fr Ophtalmol] 2022 Jun; Vol. 45 (6), pp. 647-652.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Masson Country of Publication: France NLM ID: 7804128 Publication Model: Print Cited Medium: Internet ISSN: 1773-0597 (Electronic) Linking ISSN: 01815512 NLM ISO Abbreviation: J Fr Ophtalmol Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia*/diagnosis , Aniridia*/epidemiology , Aniridia*/genetics , Physicians* , WAGR Syndrome*/diagnosis , WAGR Syndrome*/genetics, Activities of Daily Living ; Humans ; Photophobia