المؤلفون: Tan SL; Department of Paediatrics, Faculty of Medicine and Health Sciences, Universiti Malaysia Sarawak, Jalan Datuk Muhammad Musa, Kota Samarahan, Sarawak, 94300, Malaysia. sltan@unimas.my., Ahmad Narihan MGB; Department of Paediatrics, Sarawak General Hospital, Jalan Hospital, Kuching, Sarawak, 93586, Malaysia., Koa AJ; Department of Radiology, Faculty of Medicine and Health Sciences, Universiti Malaysia Sarawak, Jalan Datuk Muhammad Musa, Kota Samarahan, Sarawak, 94300, Malaysia.

المصدر: BMC pediatrics [BMC Pediatr] 2023 Oct 28; Vol. 23 (1), pp. 541. Date of Electronic Publication: 2023 Oct 28.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431 (Electronic) Linking ISSN: 14712431 NLM ISO Abbreviation: BMC Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Coffin-Lowry Syndrome*/complications , Coffin-Lowry Syndrome*/diagnosis , Coffin-Lowry Syndrome*/genetics , Intellectual Disability*/genetics , Intellectual Disability*/complications , Hypertriglyceridemia*/complications , Hypertriglyceridemia*/diagnosis, Male ; Infant, Newborn ; Humans ; Infant ; Face/pathology ; Mutation

المؤلفون: Gonzalez L; Université Paris-Saclay, CNRS, Institut des Neurosciences Paris-Saclay, 91400 Saclay, France., Sébrié C; Université Paris-Saclay CNRS, CEA, Laboratoire d'Imagerie Biomédicale Multimodale (BioMaps), Service Hospitalier Frédéric Joliot, 91401 Orsay, France., Laroche S; Université Paris-Saclay, CNRS, Institut des Neurosciences Paris-Saclay, 91400 Saclay, France., Vaillend C; Université Paris-Saclay, CNRS, Institut des Neurosciences Paris-Saclay, 91400 Saclay, France., Poirier R; Université Paris-Saclay, CNRS, Institut des Neurosciences Paris-Saclay, 91400 Saclay, France. Electronic address: roseline.poirier@universite-paris-saclay.fr.

المصدر: Neurobiology of disease [Neurobiol Dis] 2023 Jul; Vol. 183, pp. 106163. Date of Electronic Publication: 2023 Jun 01.

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

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9500169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-953X (Electronic) Linking ISSN: 09699961 NLM ISO Abbreviation: Neurobiol Dis Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/genetics , Coffin-Lowry Syndrome*/genetics, Animals ; Mice ; Male ; Brain ; Cognition ; Disease Models, Animal ; Mice, Knockout

المؤلفون: Wakami T; Department of Cardiovascular Surgery, 13863Hyogo Prefectural Amagasaki General Medical Center, Amagasaki, Hyogo, Japan., Yoshizawa K; Department of Cardiovascular Surgery, 13863Hyogo Prefectural Amagasaki General Medical Center, Amagasaki, Hyogo, Japan., Maeda T; Department of Cardiovascular Surgery, 13863Hyogo Prefectural Amagasaki General Medical Center, Amagasaki, Hyogo, Japan., Mori O; Department of Cardiovascular Surgery, 13863Hyogo Prefectural Amagasaki General Medical Center, Amagasaki, Hyogo, Japan., Tamura N; Department of Cardiovascular Surgery, 13863Hyogo Prefectural Amagasaki General Medical Center, Amagasaki, Hyogo, Japan.

المصدر: Asian cardiovascular & thoracic annals [Asian Cardiovasc Thorac Ann] 2022 Nov; Vol. 30 (9), pp. 1017-1019. Date of Electronic Publication: 2022 Sep 07.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Sage Country of Publication: England NLM ID: 9503417 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1816-5370 (Electronic) Linking ISSN: 02184923 NLM ISO Abbreviation: Asian Cardiovasc Thorac Ann Subsets: MEDLINE

مواضيع طبية MeSH: Cardiac Valve Annuloplasty* , Coffin-Lowry Syndrome* , Mitral Valve Annuloplasty* , Mitral Valve Insufficiency*/diagnostic imaging , Mitral Valve Insufficiency*/surgery , Tricuspid Valve Insufficiency*/diagnostic imaging , Tricuspid Valve Insufficiency*/surgery, Adolescent ; Humans ; Male ; Mitral Valve/diagnostic imaging ; Mitral Valve/surgery ; Treatment Outcome ; Tricuspid Valve/diagnostic imaging ; Tricuspid Valve/surgery

المؤلفون: Liu RY; Department of Neurobiology and Anatomy, W.M. Keck Center for the Neurobiology of Learning and Memory, McGovern Medical School at the University of Texas Health Science Center at Houston, Houston, Texas 77030, USA., Zhang Y; Department of Neurobiology and Anatomy, W.M. Keck Center for the Neurobiology of Learning and Memory, McGovern Medical School at the University of Texas Health Science Center at Houston, Houston, Texas 77030, USA., Smolen P; Department of Neurobiology and Anatomy, W.M. Keck Center for the Neurobiology of Learning and Memory, McGovern Medical School at the University of Texas Health Science Center at Houston, Houston, Texas 77030, USA., Cleary LJ; Department of Neurobiology and Anatomy, W.M. Keck Center for the Neurobiology of Learning and Memory, McGovern Medical School at the University of Texas Health Science Center at Houston, Houston, Texas 77030, USA., Byrne JH; Department of Neurobiology and Anatomy, W.M. Keck Center for the Neurobiology of Learning and Memory, McGovern Medical School at the University of Texas Health Science Center at Houston, Houston, Texas 77030, USA.

المصدر: Learning & memory (Cold Spring Harbor, N.Y.) [Learn Mem] 2022 Nov 29; Vol. 29 (12), pp. 435-446. Date of Electronic Publication: 2022 Nov 29 (Print Publication: 2022).

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9435678 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 1549-5485 (Electronic) Linking ISSN: 10720502 NLM ISO Abbreviation: Learn Mem Subsets: MEDLINE

مواضيع طبية MeSH: Coffin-Lowry Syndrome*/physiopathology , Cyclic AMP-Dependent Protein Kinases*/physiology , Neuronal Plasticity*/physiology , p38 Mitogen-Activated Protein Kinases*/physiology, Humans ; Mitogen-Activated Protein Kinases/physiology ; Serotonin/pharmacology

المؤلفون: Jin H; Department of Rehabilitation, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China., Li H; Department of Rehabilitation, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China., Qiang S; Department of Rehabilitation, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.

المصدر: Medicina (Kaunas, Lithuania) [Medicina (Kaunas)] 2022 Jul 20; Vol. 58 (7). Date of Electronic Publication: 2022 Jul 20.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 9425208 Publication Model: Electronic Cited Medium: Internet ISSN: 1648-9144 (Electronic) Linking ISSN: 1010660X NLM ISO Abbreviation: Medicina (Kaunas) Subsets: MEDLINE

مواضيع طبية MeSH: Coffin-Lowry Syndrome*/diagnosis , Coffin-Lowry Syndrome*/genetics, Exons ; Humans ; Male ; Mutation ; Ribosomal Protein S6 Kinases, 90-kDa/genetics ; Siblings

المؤلفون: Gürsoy S; Departments of Pediatric Genetics., Hazan F; Medical Genetics., Çetinoğlu E; Pediatric Psychiatry, S.B.Ü Dr. Behçet Uz Children's Education and Research Hospital, Izmir, Turkey.

المصدر: Psychiatric genetics [Psychiatr Genet] 2022 Oct 01; Vol. 32 (5), pp. 194-198. Date of Electronic Publication: 2022 Sep 14.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9106748 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-5873 (Electronic) Linking ISSN: 09558829 NLM ISO Abbreviation: Psychiatr Genet Subsets: MEDLINE

مواضيع طبية MeSH: Coffin-Lowry Syndrome*/genetics , Intellectual Disability*/genetics, Compulsive Behavior ; Eyebrows ; Female ; Humans ; Mutation/genetics

المؤلفون: Chiang, Kuo-Ning, Lee, C. E., Yuan, Cadmus

المصدر: 2024 IEEE 74th Electronic Components and Technology Conference (ECTC) ECTC Electronic Components and Technology Conference (ECTC), 2024 IEEE 74th. :234-239 May, 2024

Relation: 2024 IEEE 74th Electronic Components and Technology Conference (ECTC)

المؤلفون: Tise CG; Stanford University, CA, USA., Matalon DR; Stanford University, CA, USA., Manning MA; Stanford University, CA, USA., Byers HM; Stanford University, CA, USA., Grover M; Stanford University, CA, USA.

المصدر: Journal of investigative medicine high impact case reports [J Investig Med High Impact Case Rep] 2022 Jan-Dec; Vol. 10, pp. 23247096221101844.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Sage on behalf of: American Federation for Medical Research Country of Publication: United States NLM ID: 101624758 Publication Model: Print Cited Medium: Internet ISSN: 2324-7096 (Electronic) Linking ISSN: 23247096 NLM ISO Abbreviation: J Investig Med High Impact Case Rep Subsets: MEDLINE

مواضيع طبية MeSH: Coffin-Lowry Syndrome*/genetics , Dwarfism* , Hypercalcemia*/etiology , Hypercalcemia*/genetics , Intellectual Disability*, Child, Preschool ; Female ; Humans ; Male ; Ribosomal Protein S6 Kinases, 90-kDa/genetics

المؤلفون: Squeo GM; Division of Medical Genetics, IRCCS Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Augello B; Division of Medical Genetics, IRCCS Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Massa V; Dipartimento di Scienze della Salute, Universita degli Studi di Milano Dipartimento di Scienze della Salute, Milano, Italy., Milani D; UOSD Pediatria ad alta intensità di cura, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy., Colombo EA; Dipartimento di Scienze della Salute, Universita degli Studi di Milano Dipartimento di Scienze della Salute, Milano, Italy., Mazza T; Bioinformatics Unit, IRCCS Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Castellana S; Bioinformatics Unit, IRCCS Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Piccione M; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy., Maitz S; Clinical Pediatric Genetics Unit, Pediatrics Clinics, MBBM Foundation, Hospital San Gerardo, Monza, Italy., Petracca A; Division of Medical Genetics, IRCCS Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Prontera P; Medical Genetics Unit, University of Perugia Hospital SM della Misericordia, Perugia, Italy., Accadia M; Medical Genetics Service, Hospital 'Cardinale G. Panico', Tricase, Italy., Della Monica M; Medical Genetics Unit, Cardarelli Hospital, Largo A Cardarelli, Napoli, Italy., Di Giacomo MC; UOC Anatomia Patologica, AOR Ospedale 'San Carlo', Potenza, Italy., Melis D; Department of Translational Medical Science, Section of Pediatrics, University of Naples Federico II, Napoli, Italy., Selicorni A; Pediatric Department, ASST Lariana, Sant'Anna General Hospital, Como, Italy., Giglio S; Department of Biomedical, Experimental and Clinical Sciences 'Mario Serio', Medical Genetics Unit, University Hospital Meyer, Firenze, Italy., Fischetto R; Metabolic Diseases, Clinical Genetics and Diabetology Unit, Paediatric Hospital Giovanni XXIII, Bari, Italy., Di Fede E; Dipartimento di Scienze della Salute, Universita degli Studi di Milano Dipartimento di Scienze della Salute, Milano, Italy., Malerba N; Division of Medical Genetics, IRCCS Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Russo M; Division of Medical Genetics, IRCCS Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Castori M; Division of Medical Genetics, IRCCS Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Gervasini C; Dipartimento di Scienze della Salute, Universita degli Studi di Milano Dipartimento di Scienze della Salute, Milano, Italy., Merla G; Division of Medical Genetics, IRCCS Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy g.merla@operapadrepio.it.

المصدر: Journal of medical genetics [J Med Genet] 2020 Nov; Vol. 57 (11), pp. 760-768. Date of Electronic Publication: 2020 Mar 13.

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

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease*, CCCTC-Binding Factor/*genetics , Chromatin/*genetics , Coffin-Lowry Syndrome/*genetics , De Lange Syndrome/*genetics, Adenosine Triphosphatases/genetics ; Adult ; Child ; Chromatin/pathology ; Coffin-Lowry Syndrome/epidemiology ; Coffin-Lowry Syndrome/pathology ; DNA Helicases/genetics ; DNA-Binding Proteins/genetics ; De Lange Syndrome/epidemiology ; De Lange Syndrome/pathology ; Epigenesis, Genetic/genetics ; Female ; Genetic Testing ; Histone-Lysine N-Methyltransferase/genetics ; Humans ; Male ; Mutation/genetics ; Myeloid-Lymphoid Leukemia Protein/genetics ; Transcription Factors/genetics

المؤلفون: Nottmeier C; Department of Orthodontics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Decker MG; Department of Orthodontics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Luther J; Institute of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., von Kroge S; Institute of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kahl-Nieke B; Department of Orthodontics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Amling M; Institute of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Schinke T; Institute of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Petersen J; Institute of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Koehne T; Department of Orthodontics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. tkoehne@uke.de.

المصدر: International journal of oral science [Int J Oral Sci] 2020 Dec 23; Vol. 12 (1), pp. 35. Date of Electronic Publication: 2020 Dec 23.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: India NLM ID: 101504351 Publication Model: Electronic Cited Medium: Internet ISSN: 2049-3169 (Electronic) Linking ISSN: 16742818 NLM ISO Abbreviation: Int J Oral Sci Subsets: MEDLINE

مواضيع طبية MeSH: Coffin-Lowry Syndrome* , Root Resorption*, Animals ; Dental Cementum ; Mice ; Tooth Movement Techniques ; X-Ray Microtomography