Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

Wyszukujesz frazę ""Abnormalities, Multiple"" wg kryterium: Temat


Tytuł:
High Incidence of CPLANE1 -Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses
Autorzy:
Bozhinovski G; Research Center for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Sciences and Arts, Skopje, North Macedonia; Contributed equally
Terzikj M; Research Center for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Sciences and Arts, Skopje, North Macedonia; Contributed equally
Kubelka-Sabit K; Department of Laboratory for Histopathology and Cytology, Clinical Hospital Acıbadem Sistina, Skopje, North Macedonia; Faculty of Medical Sciences, Goce Delchev University, Stip, North Macedonia
Plaseska-Karanfilska D; Research Center for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Sciences and Arts, Skopje, North Macedonia
Pokaż więcej
Źródło:
Balkan medical journal [Balkan Med J] 2024 Mar 01; Vol. 41 (2), pp. 97-104. Date of Electronic Publication: 2024 Feb 14.
Typ publikacji:
Journal Article
MeSH Terms:
Abnormalities, Multiple*/epidemiology
Abnormalities, Multiple*/genetics
Abortion, Spontaneous*/etiology
Abortion, Spontaneous*/genetics
Cerebellum*/abnormalities
Eye Abnormalities*/epidemiology
Eye Abnormalities*/genetics
Kidney Diseases, Cystic*/epidemiology
Kidney Diseases, Cystic*/genetics
Retina*/abnormalities
Female ; Humans ; Pregnancy ; Case-Control Studies ; Cohort Studies ; European People ; Incidence
SCR Disease Name:
Agenesis of Cerebellar Vermis
Czasopismo naukowe
Tytuł:
Joubert syndrome causing mutation in C2 domain of CC2D2A affects structural integrity of cilia and cellular signaling molecules.
Autorzy:
Jayarajan RO; Agro-processing and Technology Division, CSIR-National Institute for Interdisciplinary Science and Technology (CSIR-NIIST), Thiruvananthapuram, Kerala, 695019, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, 201002, India.
Chakraborty S; Department of Pathology, University of Cambridge, Cambridge, CB2 1QP, UK.
Raghu KG; Agro-processing and Technology Division, CSIR-National Institute for Interdisciplinary Science and Technology (CSIR-NIIST), Thiruvananthapuram, Kerala, 695019, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, 201002, India.
Purushothaman J; Agro-processing and Technology Division, CSIR-National Institute for Interdisciplinary Science and Technology (CSIR-NIIST), Thiruvananthapuram, Kerala, 695019, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, 201002, India.
Veleri S; Drug Safety Division, National Institute of Nutrition, Indian Council of Medical Research, Department of Health Research, Ministry of Health and Family Welfare, Govt. of India, Hyderabad, 500007, India. .
Pokaż więcej
Źródło:
Experimental brain research [Exp Brain Res] 2024 Mar; Vol. 242 (3), pp. 619-637. Date of Electronic Publication: 2024 Jan 17.
Typ publikacji:
Journal Article
MeSH Terms:
Abnormalities, Multiple*/genetics
Abnormalities, Multiple*/metabolism
Cerebellum*/metabolism
Cerebellum*/abnormalities
Eye Abnormalities*/genetics
Eye Abnormalities*/metabolism
Kidney Diseases, Cystic*
Polycystic Kidney Diseases*/genetics
Polycystic Kidney Diseases*/metabolism
Retina*/abnormalities
Animals ; Mice ; C2 Domains ; Cilia/genetics ; Cilia/metabolism ; Cytoskeletal Proteins/genetics ; Hedgehog Proteins/genetics ; Hedgehog Proteins/metabolism ; Mutation/genetics
SCR Disease Name:
Agenesis of Cerebellar Vermis
Czasopismo naukowe
Tytuł:
Cloacal Dysgenesis Sequence in a Preterm Neonate.
Autorzy:
Vacaru A; School of Medicine, Loma Linda University, Loma Linda, CA, USA.
Won MM; School of Medicine, Loma Linda University, Loma Linda, CA, USA.
Raymond SL; Division of Pediatric Surgery, Loma Linda University Children's Hospital, Loma Linda, CA, USA.
Chamberlin JD; Division of Pediatric Urology, Loma Linda University Children's Hospital, 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.
Pokaż więcej
Źródło:
The American journal of case reports [Am J Case Rep] 2024 Feb 27; Vol. 25, pp. e942203. Date of Electronic Publication: 2024 Feb 27.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Ascites*
Abnormalities, Multiple*/diagnostic imaging
Abnormalities, Multiple*/surgery
Infant, Newborn ; Animals ; Female ; Pregnancy ; Humans ; Child ; Young Adult ; Adult ; Cloaca/diagnostic imaging ; Cloaca/surgery ; Cloaca/abnormalities ; Ultrasonography, Prenatal/methods ; Vagina/diagnostic imaging ; Vagina/surgery ; Vagina/abnormalities
Czasopismo naukowe
Tytuł:
Further Delineation of Clinical Phenotype of ZMYND11 Variants in Patients with Neurodevelopmental Dysmorphic Syndrome.
Autorzy:
Bodetko A; Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Wroclaw Medical University, 50-368 Wroclaw, Poland.
Chrzanowska J; Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Wroclaw Medical University, 50-368 Wroclaw, Poland.
Rydzanicz M; Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.
Borys-Iwanicka A; Department of Paediatrics, Gastroenterology and Nutrition, Wroclaw Medical University, 50-369 Wroclaw, Poland.
Karpinski P; Department of Genetics, Wroclaw Medical University, 50-368 Wroclaw, Poland.
Bladowska J; Department of Radiology, Wroclaw 4th Military Clinical Hospital, Faculty of Medicine, Wroclaw University of Science and Technology, 53-114 Wroclaw, Poland.; Department of Radiology and Imaging Diagnostics, Emergency Medicine Center, Marciniak Lower Silesian Specialist Hospital, 54-049 Wroclaw, Poland.
Ploski R; Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.
Smigiel R; Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Wroclaw Medical University, 50-368 Wroclaw, Poland.
Pokaż więcej
Źródło:
Genes [Genes (Basel)] 2024 Feb 19; Vol. 15 (2). Date of Electronic Publication: 2024 Feb 19.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Abnormalities, Multiple*/genetics
Abnormalities, Multiple*/diagnosis
Intellectual Disability*/genetics
Intellectual Disability*/diagnosis
Child ; Humans ; Cell Cycle Proteins/genetics ; Co-Repressor Proteins/genetics ; DNA-Binding Proteins/genetics ; Mutation, Missense ; Phenotype ; Syndrome
Czasopismo naukowe
Tytuł:
Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome.
Autorzy:
Silveira HG; Disciplina de Genética, Departamento de Morfologia e Genética, Universidade Federal de São Paulo (Unifesp), São Paulo 04023-062, Brazil.
Steiner CE; Genética Médica e Medicina Genômica, Departamento de Medicina Translacional, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-970, Brazil.
Toccoli G; Disciplina de Genética, Departamento de Morfologia e Genética, Universidade Federal de São Paulo (Unifesp), São Paulo 04023-062, Brazil.
Angeloni LL; Genética Médica e Medicina Genômica, Departamento de Medicina Translacional, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-970, Brazil.
Heleno JL; Genética Médica e Medicina Genômica, Departamento de Medicina Translacional, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-970, Brazil.
Spineli-Silva S; Genética Médica e Medicina Genômica, Departamento de Medicina Translacional, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-970, Brazil.
Dos Santos AM; Genética Médica e Medicina Genômica, Departamento de Medicina Translacional, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-970, Brazil.; Faculdade São Leopoldo Mandic (SLMandic), Campinas 13045-755, Brazil.
Vieira TP; Genética Médica e Medicina Genômica, Departamento de Medicina Translacional, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-970, Brazil.
Melaragno MI; Disciplina de Genética, Departamento de Morfologia e Genética, Universidade Federal de São Paulo (Unifesp), São Paulo 04023-062, Brazil.
Gil-da-Silva-Lopes VL; Genética Médica e Medicina Genômica, Departamento de Medicina Translacional, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-970, Brazil.
Pokaż więcej
Źródło:
Genes [Genes (Basel)] 2024 Feb 06; Vol. 15 (2). Date of Electronic Publication: 2024 Feb 06.
Typ publikacji:
Journal Article
MeSH Terms:
Abnormalities, Multiple*/diagnosis
Abnormalities, Multiple*/genetics
Abnormalities, Multiple*/pathology
Contracture*
DiGeorge Syndrome*/genetics
Facies*
Growth Disorders*
Intellectual Disability*/diagnosis
Intellectual Disability*/genetics
Microcephaly*
Velopharyngeal Insufficiency*
Humans
SCR Disease Name:
Growth Deficiency and Mental Retardation with Facial Dysmorphism
Czasopismo naukowe
Tytuł:
Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications.
Autorzy:
Nishi E; Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Japan.
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan.
Kawamura R; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.
Hosoki K; Department of Molecular Medicine, Reserch Institute, Osaka Women's and Children's Hospital, Izumi, Japan.
Hasegawa Y; Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Japan.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Japan.; Department of Molecular Medicine, Reserch Institute, Osaka Women's and Children's Hospital, Izumi, Japan.
Pokaż więcej
Źródło:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Feb; Vol. 194 (2), pp. 268-278. Date of Electronic Publication: 2023 Oct 10.
Typ publikacji:
Journal Article
MeSH Terms:
Abnormalities, Multiple*/diagnosis
Abnormalities, Multiple*/epidemiology
Abnormalities, Multiple*/genetics
Hematologic Diseases*/complications
Hematologic Diseases*/diagnosis
Hematologic Diseases*/epidemiology
Vestibular Diseases*/diagnosis
Vestibular Diseases*/epidemiology
Vestibular Diseases*/genetics
Craniosynostoses*/complications
Craniosynostoses*/diagnosis
Craniosynostoses*/epidemiology
Face/*abnormalities
Humans ; Retrospective Studies ; Prevalence ; Histone Demethylases/genetics ; Mutation
SCR Disease Name:
Kabuki syndrome
Czasopismo naukowe
Tytuł:
A Japanese patient with Teebi hypertelorism syndrome and a novel CDH11 EC1 domain variant.
Autorzy:
Kuroda Y; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Kanagawa, Japan.
Saito Y; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Kanagawa, Japan.
Enomoto Y; Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Kanagawa, Japan.
Naruto T; Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Kanagawa, Japan.
Kurosawa K; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Kanagawa, Japan.
Pokaż więcej
Źródło:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jan; Vol. 194 (1), pp. 94-99. Date of Electronic Publication: 2023 Aug 30.
Typ publikacji:
Case Reports
MeSH Terms:
Hypospadias*
Abnormalities, Multiple*/diagnosis
Abnormalities, Multiple*/genetics
Hypertelorism*/genetics
Syndactyly*/diagnosis
Syndactyly*/genetics
Humans ; Male ; Infant ; Japan ; Cadherins/genetics
SCR Disease Name:
Hypertelorism with esophageal abnormality and hypospadias; Brachioskeletogenital syndrome
Raport
Tytuł:
Anesthetic considerations in the perioperative management of the patient with Jarcho-Levin Syndrome.
Autorzy:
Rico Rodríguez F; Doctorado Biomedicina, Investigación traslacional y nuevas tecnologías en salud de la Universidad de Málaga (UMA), Especialista en Medicina Familiar y Comunitaria, Residente Anestesiología, Reanimación y Terapéutica del Dolor del Hospital Universitario de Canarias, San Cristóbal de la Laguna, Santa Cruz de Tenerife, Spain. Electronic address: .
Camargo Espitia DA; FEA Anestesiología, Reanimación y Terapéutica del Dolor del Hospital Universitario de Canarias, San Cristóbal de la Laguna, Santa Cruz de Tenerife, Spain.
Mayoral Márquez A; FEA Anestesiología, Reanimación y Terapéutica del Dolor del Hospital Universitario de Canarias, San Cristóbal de la Laguna, Santa Cruz de Tenerife, Spain.
Ruan Lin S; FEA Anestesiología, Reanimación y Terapéutica del Dolor del Hospital Universitario de Canarias, San Cristóbal de la Laguna, Santa Cruz de Tenerife, Spain.
Martín Lorenzo MC; FEA Anestesiología, Reanimación y Terapéutica del Dolor del Hospital Universitario de Canarias, San Cristóbal de la Laguna, Santa Cruz de Tenerife, Spain.
Pokaż więcej
Źródło:
Revista espanola de anestesiologia y reanimacion [Rev Esp Anestesiol Reanim (Engl Ed)] 2024 Jan; Vol. 71 (1), pp. 54-57. Date of Electronic Publication: 2023 Sep 06.
Typ publikacji:
Case Reports
MeSH Terms:
Hernia, Diaphragmatic*/surgery
Abnormalities, Multiple*/diagnosis
Abnormalities, Multiple*/surgery
Anesthetics*
Humans ; Spine
SCR Disease Name:
Jarcho-Levin syndrome
Raport
Tytuł:
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Autorzy:
Schmetz A; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Moorenstraße 5, 40225, Düsseldorf, Germany. .
Lüdecke HJ; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Moorenstraße 5, 40225, Düsseldorf, Germany.
Surowy H; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Moorenstraße 5, 40225, Düsseldorf, Germany.
Sivalingam S; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Moorenstraße 5, 40225, Düsseldorf, Germany.
Bruel AL; Inserm UMR1231 Team GAD, University of Burgundy and Franche-Comté, 21000, Dijon, France.; Functional Unit of Innovative Diagnosis for Rare Diseases, Dijon Bourgogne University Hospital, 21000, Dijon, France.
Caumes R; CHU Lille, Clinique de Génétique, 59000, Lille, France.
Charles P; Assistance Publique-Hôpitaux de Paris, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Chatron N; Service de Génétique, Hospices Civils de Lyon, Bron, France.; Institute NeuroMyoGène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS UMR 5261-INSERM U1315, Université de Lyon-Université Claude Bernard Lyon 1, Lyon, France.
Chrzanowska K; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
Codina-Solà M; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, 08035, Barcelona, Spain.
Colson C; CHU Lille, Clinique de Génétique, 59000, Lille, France.
Cuscó I; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, 08035, Barcelona, Spain.
Denommé-Pichon AS; Inserm UMR1231 Team GAD, University of Burgundy and Franche-Comté, 21000, Dijon, France.; Functional Unit of Innovative Diagnosis for Rare Diseases, Dijon Bourgogne University Hospital, 21000, Dijon, France.
Edery P; Service de Génétique, 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, Lyon, France.
Faivre L; Inserm UMR1231 Team GAD, University of Burgundy and Franche-Comté, 21000, Dijon, France.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Fédération Hospitalo-Universitaire TRANSLAD et Institut GIMI, Dijon Bourgogne University Hospital, 21000, Dijon, France.
Green A; Department of Clinical Genetics, Children's Health Ireland at Crumlin, and University College Dublin School of Medicine and Medical Science, Dublin, Ireland.
Heide S; Assistance Publique-Hôpitaux de Paris, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.
Hustinx A; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.
Kleinendorst L; Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands.
Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074, Aachen, Germany.
Kraft F; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074, Aachen, Germany.
Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.
Lasa-Aranzasti A; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, 08035, Barcelona, Spain.
Lesca G; Service de Génétique, Hospices Civils de Lyon, Bron, France.; Institute NeuroMyoGène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS UMR 5261-INSERM U1315, Université de Lyon-Université Claude Bernard Lyon 1, Lyon, France.
López-González V; Sección Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca (HCUVA), IMIB-Arrixaca, El Palmar, Murcia, Spain.
Maraval J; Inserm UMR1231 Team GAD, University of Burgundy and Franche-Comté, 21000, Dijon, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Dijon Bourgogne University Hospital, 21000, Dijon, France.
Mignot C; Assistance Publique-Hôpitaux de Paris, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Neuhann T; Medizinisch Genetisches Zentrum, Munich, Germany.
Netzer C; Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Oehl-Jaschkowitz B; BIOSCIENTIA MVZ Labor Saar, Praxis Für Humangenetik, Homburg Saar, Germany.
Petit F; CHU Lille, Clinique de Génétique, 59000, Lille, France.
Philippe C; Inserm UMR1231 Team GAD, University of Burgundy and Franche-Comté, 21000, Dijon, France.; Functional Unit of Innovative Diagnosis for Rare Diseases, Dijon Bourgogne University Hospital, 21000, Dijon, France.; Laboratory of Human Genetics, CHR Metz Thionville, Hôpital Mercy, Metz, France.
Posmyk R; Department of Clinical Genetics, Medical University in Bialystok, Bialystok, Poland.
Putoux A; Service de Génétique, 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, Lyon, France.
Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054, Erlangen, Germany.; Centre for Rare Diseases Erlangen (ZSEER), 91054, Erlangen, Germany.
Sánchez-Soler MJ; Sección Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca (HCUVA), IMIB-Arrixaca, El Palmar, Murcia, Spain.
Suh J; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074, Aachen, Germany.; Centre for Rare Diseases Aachen (ZSEA), 52076, Aachen, Germany.
Tkemaladze T; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia.
Tran Mau Them F; Inserm UMR1231 Team GAD, University of Burgundy and Franche-Comté, 21000, Dijon, France.; Functional Unit of Innovative Diagnosis for Rare Diseases, Dijon Bourgogne University Hospital, 21000, Dijon, France.
Travessa A; Medical Genetics Department, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal.
Trujillano L; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, 08035, Barcelona, Spain.
Valenzuela I; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, 08035, Barcelona, Spain.
van Haelst MM; Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands.
Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054, Erlangen, Germany.; Centre for Rare Diseases Erlangen (ZSEER), 91054, Erlangen, Germany.
Vincent-Delorme C; CHU Lille, Clinique de Génétique, 59000, Lille, France.
Walther M; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054, Erlangen, Germany.
Verde P; Coordination Centre for Clinical Trials, Heinrich Heine University Düsseldorf, 40225, Düsseldorf, Germany.
Bramswig NC; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Moorenstraße 5, 40225, Düsseldorf, Germany.
Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Moorenstraße 5, 40225, Düsseldorf, Germany.; Center for Rare Diseases, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, 40225, Düsseldorf, Germany.
Pokaż więcej
Źródło:
Human genetics [Hum Genet] 2024 Jan; Vol. 143 (1), pp. 71-84. Date of Electronic Publication: 2023 Dec 20.
Typ publikacji:
Journal Article
MeSH Terms:
Intellectual Disability*/genetics
Intellectual Disability*/diagnosis
Abnormalities, Multiple*/genetics
Abnormalities, Multiple*/diagnosis
Micrognathism*/genetics
Micrognathism*/diagnosis
Hand Deformities, Congenital*/genetics
Face/*abnormalities
Adult ; Humans ; Child ; Neck/abnormalities ; Phenotype ; DNA Helicases/genetics ; Nuclear Proteins/genetics ; Transcription Factors/genetics ; Chromosomal Proteins, Non-Histone/genetics ; DNA-Binding Proteins/genetics
SCR Disease Name:
Coffin-Siris syndrome
Czasopismo naukowe
Tytuł:
Chromosome balanced translocation in newborn fetus founded during prenatal diagnosis: Three cases reports.
Autorzy:
Yao L; The Second Hospital of Jilin University, Changchun City, Jilin Province, China.
Kan X
Xia Y
Wang L
Zhao X
Lu Y
Pokaż więcej
Źródło:
Medicine [Medicine (Baltimore)] 2024 Mar 08; Vol. 103 (10), pp. e37345.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Down Syndrome*/diagnosis
Chromosome Disorders*/genetics
Abnormalities, Multiple*/genetics
Pregnancy ; Female ; Child ; Infant, Newborn ; Humans ; Translocation, Genetic ; Chromosome Aberrations ; Prenatal Diagnosis ; Fetus ; Chromosomes
Czasopismo naukowe
Tytuł:
Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome.
Autorzy:
Koparir A; Institute of Human Genetics, Julius-Maximilians-Universität Würzburg, Biozentrum, Am Hubland, 97074, Würzburg, Germany.
Lekszas C; Institute of Human Genetics, Julius-Maximilians-Universität Würzburg, Biozentrum, Am Hubland, 97074, Würzburg, Germany.
Keseroglu K; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Rose T; Institute of Human Genetics, Julius-Maximilians-Universität Würzburg, Biozentrum, Am Hubland, 97074, Würzburg, Germany.
Rappl L; Institute of Human Genetics, Julius-Maximilians-Universität Würzburg, Biozentrum, Am Hubland, 97074, Würzburg, Germany.
Rad A; Cellular and Molecular Research Centre, Sabzevar University of Medical Sciences, Sabzevar, Iran.
Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Narendran N; University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Hasanzadeh A; Cellular and Molecular Research Centre, Sabzevar University of Medical Sciences, Sabzevar, 009851, Iran.
Karimiani EG; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
Boschann F; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität Zu Berlin, Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.
Kornak U; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität Zu Berlin, Berlin, Germany.; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
Klopocki E; Institute of Human Genetics, Julius-Maximilians-Universität Würzburg, Biozentrum, Am Hubland, 97074, Würzburg, Germany.
Özbudak EM; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Vona B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany.
Haaf T; Institute of Human Genetics, Julius-Maximilians-Universität Würzburg, Biozentrum, Am Hubland, 97074, Würzburg, Germany.
Liedtke D; Institute of Human Genetics, Julius-Maximilians-Universität Würzburg, Biozentrum, Am Hubland, 97074, Würzburg, Germany. .
Pokaż więcej
Źródło:
Human genomics [Hum Genomics] 2024 Mar 06; Vol. 18 (1), pp. 23. Date of Electronic Publication: 2024 Mar 06.
Typ publikacji:
Journal Article
MeSH Terms:
Abnormalities, Multiple*
Dwarfism*
Osteochondrodysplasias*
Animals ; Female ; Humans ; Pregnancy ; Gain of Function Mutation ; Iran ; RNA, Messenger ; T-Box Domain Proteins/genetics ; Transcription Factors ; Zebrafish/genetics ; Zebrafish Proteins/genetics
Czasopismo naukowe
Tytuł:
Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse.
Autorzy:
Muroňová J; Institute for Advanced Biosciences (IAB), INSERM 1209, Grenoble, France.; Institute for Advanced Biosciences (IAB), CNRS UMR 5309, Grenoble, France.; Institute for Advanced Biosciences (IAB), Université Grenoble Alpes, Grenoble, France.
Kherraf ZE; Institute for Advanced Biosciences (IAB), INSERM 1209, Grenoble, France.; Institute for Advanced Biosciences (IAB), CNRS UMR 5309, Grenoble, France.; Institute for Advanced Biosciences (IAB), Université Grenoble Alpes, Grenoble, France.; UM GI-DPI, CHU Grenoble Alpes, Grenoble, France.
Giordani E; Institute for Advanced Biosciences (IAB), INSERM 1209, Grenoble, France.; Institute for Advanced Biosciences (IAB), CNRS UMR 5309, Grenoble, France.; Institute for Advanced Biosciences (IAB), Université Grenoble Alpes, Grenoble, France.
Lambert E; Institute for Advanced Biosciences (IAB), INSERM 1209, Grenoble, France.; Institute for Advanced Biosciences (IAB), CNRS UMR 5309, Grenoble, France.; Institute for Advanced Biosciences (IAB), Université Grenoble Alpes, Grenoble, France.
Eckert S; Cell Biology/ Electron Microscopy, University of Bayreuth, Bayreuth, Germany.
Cazin C; Institute for Advanced Biosciences (IAB), INSERM 1209, Grenoble, France.; Institute for Advanced Biosciences (IAB), CNRS UMR 5309, Grenoble, France.; Institute for Advanced Biosciences (IAB), Université Grenoble Alpes, Grenoble, France.; UM GI-DPI, CHU Grenoble Alpes, Grenoble, France.
Amiri-Yekta A; Institute for Advanced Biosciences (IAB), INSERM 1209, Grenoble, France.; Institute for Advanced Biosciences (IAB), CNRS UMR 5309, Grenoble, France.; Institute for Advanced Biosciences (IAB), Université Grenoble Alpes, Grenoble, France.; Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Islamic Republic of Iran.
Court M; Institute for Advanced Biosciences (IAB), INSERM 1209, Grenoble, France.; Institute for Advanced Biosciences (IAB), CNRS UMR 5309, Grenoble, France.; Institute for Advanced Biosciences (IAB), Université Grenoble Alpes, Grenoble, France.
Chevalier G; Institute for Advanced Biosciences (IAB), INSERM 1209, Grenoble, France.; Institute for Advanced Biosciences (IAB), CNRS UMR 5309, Grenoble, France.; Institute for Advanced Biosciences (IAB), Université Grenoble Alpes, Grenoble, France.
Martinez G; Institute for Advanced Biosciences (IAB), INSERM 1209, Grenoble, France.; Institute for Advanced Biosciences (IAB), CNRS UMR 5309, Grenoble, France.; Institute for Advanced Biosciences (IAB), Université Grenoble Alpes, Grenoble, France.; UM de Génétique Chromosomique, Hôpital Couple-Enfant, CHU Grenoble Alpes, Grenoble, France.
Neirijnck Y; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
Kühne F; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
Wehrli L; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
Klena N; University of Geneva, Department of Molecular and Cellular Biology, Sciences III, Geneva, Switzerland.
Hamel V; University of Geneva, Department of Molecular and Cellular Biology, Sciences III, Geneva, Switzerland.
De Macedo L; Institute for Advanced Biosciences (IAB), INSERM 1209, Grenoble, France.; Institute for Advanced Biosciences (IAB), CNRS UMR 5309, Grenoble, France.; Institute for Advanced Biosciences (IAB), Université Grenoble Alpes, Grenoble, France.
Escoffier J; Institute for Advanced Biosciences (IAB), INSERM 1209, Grenoble, France.; Institute for Advanced Biosciences (IAB), CNRS UMR 5309, Grenoble, France.; Institute for Advanced Biosciences (IAB), Université Grenoble Alpes, Grenoble, France.
Guichard P; University of Geneva, Department of Molecular and Cellular Biology, Sciences III, Geneva, Switzerland.
Coutton C; Institute for Advanced Biosciences (IAB), INSERM 1209, Grenoble, France.; Institute for Advanced Biosciences (IAB), CNRS UMR 5309, Grenoble, France.; Institute for Advanced Biosciences (IAB), Université Grenoble Alpes, Grenoble, France.; UM de Génétique Chromosomique, Hôpital Couple-Enfant, CHU Grenoble Alpes, Grenoble, France.
Mustapha SFB; Polyclinique les Jasmins, Centre d'Aide Médicale à la Procréation, Centre Urbain Nord, Tunis, Tunisia.
Kharouf M; Polyclinique les Jasmins, Centre d'Aide Médicale à la Procréation, Centre Urbain Nord, Tunis, Tunisia.
Bouin AP; Institute for Advanced Biosciences (IAB), INSERM 1209, Grenoble, France.; Institute for Advanced Biosciences (IAB), CNRS UMR 5309, Grenoble, France.; Institute for Advanced Biosciences (IAB), Université Grenoble Alpes, Grenoble, France.
Zouari R; Polyclinique les Jasmins, Centre d'Aide Médicale à la Procréation, Centre Urbain Nord, Tunis, Tunisia.
Thierry-Mieg N; Laboratoire TIMC/MAGe, CNRS UMR 5525, Pavillon Taillefer, Faculté de Medecine, La Tronche, France.
Nef S; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
Geimer S; Cell Biology/ Electron Microscopy, University of Bayreuth, Bayreuth, Germany.
Loeuillet C; Institute for Advanced Biosciences (IAB), INSERM 1209, Grenoble, France.; Institute for Advanced Biosciences (IAB), CNRS UMR 5309, Grenoble, France.; Institute for Advanced Biosciences (IAB), Université Grenoble Alpes, Grenoble, France.
Ray PF; Institute for Advanced Biosciences (IAB), INSERM 1209, Grenoble, France.; Institute for Advanced Biosciences (IAB), CNRS UMR 5309, Grenoble, France.; Institute for Advanced Biosciences (IAB), Université Grenoble Alpes, Grenoble, France.; UM GI-DPI, CHU Grenoble Alpes, Grenoble, France.
Arnoult C; Institute for Advanced Biosciences (IAB), INSERM 1209, Grenoble, France.; Institute for Advanced Biosciences (IAB), CNRS UMR 5309, Grenoble, France.; Institute for Advanced Biosciences (IAB), Université Grenoble Alpes, Grenoble, France.
Pokaż więcej
Źródło:
ELife [Elife] 2024 Mar 05; Vol. 12. Date of Electronic Publication: 2024 Mar 05.
Typ publikacji:
Journal Article
MeSH Terms:
Abnormalities, Multiple*
Infertility, Male*/genetics
Animals ; Humans ; Male ; Mice ; Centrioles ; Mice, Knockout ; Microtubule-Associated Proteins/genetics ; Semen
Czasopismo naukowe
Tytuł:
Limb-body wall complex: Literature review and case report.
Autorzy:
Cortés-Enríquez OD; Hospital General de Zona con Medicina Familiar No. 6. Instituto Mexicano del Seguro Social, San Nicolas de los Garza, Mexico.
Tapia-Fonseca CV; Hospital General de Zona con Medicina Familiar No. 6. Instituto Mexicano del Seguro Social, San Nicolas de los Garza, Mexico.
Torres-Fuentes MA; Hospital General de Zona con Medicina Familiar No. 6. Instituto Mexicano del Seguro Social, San Nicolas de los Garza, Mexico.
Torres-Riojas PB; Hospital General de Zona con Medicina Familiar No. 6. Instituto Mexicano del Seguro Social, San Nicolas de los Garza, Mexico.
Raya-Garza LP; Hospital General de Zona con Medicina Familiar No. 6. Instituto Mexicano del Seguro Social, San Nicolas de los Garza, Mexico.
Pokaż więcej
Źródło:
Birth defects research [Birth Defects Res] 2024 Mar; Vol. 116 (3), pp. e2322.
Typ publikacji:
Case Reports
MeSH Terms:
Abnormalities, Multiple*
Limb Deformities, Congenital*/diagnosis
Male ; Female ; Pregnancy ; Adolescent ; Humans ; Gastrulation ; Gravidity ; Mothers
Raport
Tytuł:
Early prenatal diagnosis of spondylocostal dysostosis caused by a novel variant in MESP2.
Autorzy:
Zhou Y; Guangzhou Medical University, Guangzhou, Guangdong, China.
Chen G; Guangzhou Medical University, Guangzhou, Guangdong, China.
Li F; Guangzhou Medical University, Guangzhou, Guangdong, China.
Huang L; Guangzhou Medical University, Guangzhou, Guangdong, China.
Han J; Guangzhou Medical University, Guangzhou, Guangdong, China.; Guangzhou Women and Children's Medical Center, Guangzhou, Guangdong, China.
Pokaż więcej
Źródło:
Congenital anomalies [Congenit Anom (Kyoto)] 2024 Mar; Vol. 64 (2), pp. 61-62. Date of Electronic Publication: 2024 Feb 18.
Typ publikacji:
Journal Article
MeSH Terms:
Abnormalities, Multiple*
Hernia, Diaphragmatic*
Female ; Pregnancy ; Humans ; Prenatal Diagnosis ; Spine ; Basic Helix-Loop-Helix Transcription Factors
SCR Disease Name:
Jarcho-Levin syndrome
Czasopismo naukowe
Tytuł:
Incomplete spinal cord injury following minor trauma in two siblings with spondylocostal dysostis type 6.
Autorzy:
van der Vlis TAMB; Department of Neurosurgery, Isala Hospital, Zwolle, The Netherlands.; Department of Neurosurgery, Erasmus Medical Center, Doctor Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands.
Boeykens A; Department of Neurosurgery, Erasmus Medical Center, Doctor Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands.
Jacobs E; Department of Pediatric Neurology, Juliana Children's Hospital, The Hague, The Netherlands.
Veenma DCM; Department of Pediatrics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; ENCORE Expertise Center, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
Thompson DNP; Department of Neurosurgery, Great Ormond Street Hospital for Children, London, WC1N 3JH, UK.
Bannink N; Department of Pediatrics, Franciscus Gasthuis and Vlietland, Rotterdam and Schiedam, The Netherlands.
Joor F; Department of Orthopaedics, Erasmus MC, Rotterdam, The Netherlands.
Renkens J; Department of Orthopaedics, Erasmus MC, Rotterdam, The Netherlands.
Rutges JPHJ; Department of Orthopaedics, Erasmus MC, Rotterdam, The Netherlands.
Harhangi BS; Department of Neurosurgery, Erasmus Medical Center, Doctor Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands.; Department of Neurosurgery, Park Medical Center, Rotterdam, The Netherlands.
Spoor JKH; Department of Neurosurgery, Erasmus Medical Center, Doctor Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands. .
Pokaż więcej
Źródło:
Spine deformity [Spine Deform] 2024 Mar; Vol. 12 (2), pp. 507-511. Date of Electronic Publication: 2023 Dec 14.
Typ publikacji:
Journal Article
MeSH Terms:
Abnormalities, Multiple*/surgery
Spinal Cord Injuries*/complications
Humans ; Siblings ; Cervical Vertebrae/diagnostic imaging ; Cervical Vertebrae/surgery ; Cervical Vertebrae/abnormalities
Czasopismo naukowe
Tytuł:
Dietary supplementation of magnolol alleviates fatty liver hemorrhage syndrome in postpeak Xinhua laying hens via regulation of liver lipid metabolism.
Autorzy:
Chu Y; Key Laboratory of Agricultural Animal Genetics, Breeding and Reproduction of Ministry of Education, College of Animal Science and Technology & College of Veterinary Medicine, Huazhong Agricultural University, Wuhan, 430070, China; Hubei Yidanyuan Agricultural and Animal Husbandry Technology Co. LTD, Yingcheng, 432400, China.
Zheng Y; Key Laboratory of Agricultural Animal Genetics, Breeding and Reproduction of Ministry of Education, College of Animal Science and Technology & College of Veterinary Medicine, Huazhong Agricultural University, Wuhan, 430070, China.
Li Y; Key Laboratory of Agricultural Animal Genetics, Breeding and Reproduction of Ministry of Education, College of Animal Science and Technology & College of Veterinary Medicine, Huazhong Agricultural University, Wuhan, 430070, China.
Gui S; Key Laboratory of Agricultural Animal Genetics, Breeding and Reproduction of Ministry of Education, College of Animal Science and Technology & College of Veterinary Medicine, Huazhong Agricultural University, Wuhan, 430070, China.
Zhao J; Key Laboratory of Agricultural Animal Genetics, Breeding and Reproduction of Ministry of Education, College of Animal Science and Technology & College of Veterinary Medicine, Huazhong Agricultural University, Wuhan, 430070, China.
Zhao Y; Key Laboratory of Agricultural Animal Genetics, Breeding and Reproduction of Ministry of Education, College of Animal Science and Technology & College of Veterinary Medicine, Huazhong Agricultural University, Wuhan, 430070, China.
Chen X; Key Laboratory of Agricultural Animal Genetics, Breeding and Reproduction of Ministry of Education, College of Animal Science and Technology & College of Veterinary Medicine, Huazhong Agricultural University, Wuhan, 430070, China. Electronic address: .
Pokaż więcej
Źródło:
Poultry science [Poult Sci] 2024 Mar; Vol. 103 (3), pp. 103378. Date of Electronic Publication: 2023 Dec 15.
Typ publikacji:
Journal Article
MeSH Terms:
Chickens*
Fatty Liver*/drug therapy
Fatty Liver*/veterinary
Abnormalities, Multiple*
Heart Septal Defects, Ventricular*
Craniofacial Abnormalities*
Biphenyl Compounds*
Growth Disorders*
Lignans*
Animals ; Female ; Lipid Metabolism ; Dietary Supplements ; Fatty Acids
SCR Disease Name:
Floating-harbor syndrome
Czasopismo naukowe
Tytuł:
Radiologic Examination of High Riding Vertebral Artery and Analysis of Secure Areas.
Autorzy:
Akbulut F; Department of Neurosurgery, Marmara University Pendik Training and Research Hospital, İstanbul, Turkey. Electronic address: fatihakbulut_.
Pınar E; Department of Neurosurgery, Private Pendik Yuzyil Hospital, İstanbul, Turkey.
Çekiç E; Department of Neurosurgery, Polatlı State Hospital, Ankara, Turkey.
Akdeniz E; Department of Medical Education, Marmara University, İstanbul, Turkey.
Harman F; Department of Neurosurgery, Marmara University Hospital, İstanbul, Turkey.
Pokaż więcej
Źródło:
World neurosurgery [World Neurosurg] 2024 Mar; Vol. 183, pp. e772-e780. Date of Electronic Publication: 2024 Jan 10.
Typ publikacji:
Journal Article
MeSH Terms:
Spinal Diseases*
Spinal Fusion*/methods
Pedicle Screws*
Abnormalities, Multiple*
Hernia, Diaphragmatic*
Humans ; Male ; Female ; Vertebral Artery/diagnostic imaging ; Radiography ; Bone Screws ; Tomography, X-Ray Computed ; Imaging, Three-Dimensional ; Cervical Vertebrae/diagnostic imaging ; Cervical Vertebrae/surgery
SCR Disease Name:
Jarcho-Levin syndrome
Czasopismo naukowe
Tytuł:
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.
Autorzy:
de Kock L; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada.
Cuillerier A; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada.
Gillespie M; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
Couse M; The Centre for Computational Medicine, the Hospital for Sick Children (SickKids) Research Institute, Toronto, Ontario, Canada.
Hartley T; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
Mears W; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
Bernier FP; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada.
Chudley AE; Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.; Department of Biochemistry and Medical Genetics, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.
Frosk P; Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.; Department of Biochemistry and Medical Genetics, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.
Nikkel SM; Provincial Medical Genetics Program, BC Women's Hospital, Vancouver, British Columbia, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Innes AM; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada.
Lauzon J; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada.
Thomas M; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada.
Guerin A; Division of Medical Genetics, Department of Pediatrics, Queen's University, Kingston, Ontario, Canada.
Armour CM; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
Weksberg R; Division of Clinical and Metabolic Genetics, Department of Paediatrics and Genetics and Genome Biology Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.; Institute of Medical Sciences and Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
Scott JN; Departments of Diagnostic Imaging and Clinical Neurosciences, University of Calgary, Calgary, Alberta, Canada.
Watkins D; Northeastern Ontario Medical Genetics Program, Health Sciences North, Greater Sudbury, Ontario, Canada.
Harvey S; Program of Genetics and Metabolism, Health Sciences Centre, Winnipeg, Manitoba, Canada.
Cytrynbaum C; Division of Clinical and Metabolic Genetics, Department of Genetic Counselling and Genetics and Genome Biology Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.
Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada.; Newborn Screening Ontario, Ottawa, Ontario, Canada.
Boycott KM; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Pokaż więcej
Corporate Authors:
Care4Rare Canada Consortium; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
Źródło:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Mar; Vol. 194 (3), pp. e63466. Date of Electronic Publication: 2023 Nov 10.
Typ publikacji:
Journal Article
MeSH Terms:
Musculoskeletal Abnormalities*/genetics
Megalencephaly*
Vascular Malformations*/diagnosis
Vascular Malformations*/genetics
Abnormalities, Multiple*
Skin Diseases, Vascular*
Telangiectasis/*congenital
Humans ; Mutation ; Class I Phosphatidylinositol 3-Kinases/genetics ; High-Throughput Nucleotide Sequencing
SCR Disease Name:
Megalencephaly cutis marmorata telangiectatica congenita
Czasopismo naukowe
Tytuł:
CATSHL syndrome, a new family and phenotypic expansion.
Autorzy:
Cannova S; Università degli Studi di Milano, Milano, Italy.
Meossi C; Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milano, Italy.
Grilli F; Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milano, Italy.
Milani D; Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milano, Italy.
Alberti F; Università degli Studi di Milano, Milano, Italy.
Cesaretti C; Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milano, Italy.
Marchisio PG; Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milano, Italy.; Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti, Università degli Studi di Milano, Milano, Italy.
Crosti F; UO Genetica Medica, IRCCS San Gerardo, Monza, Italy.
Pezzani L; Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milano, Italy.; UO Pediatria, ASST Papa Giovanni XXIII, Bergamo, Italy.
Pokaż więcej
Źródło:
Clinical genetics [Clin Genet] 2024 Mar; Vol. 105 (3), pp. 313-316. Date of Electronic Publication: 2023 Nov 22.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Scoliosis*/genetics
Hearing Loss*/genetics
Bone Diseases, Developmental*
Deafness*
Limb Deformities, Congenital*
Hand Deformities, Congenital*
Lacrimal Apparatus Diseases*
Tooth Abnormalities*
Syndactyly*
Abnormalities, Multiple*
Female ; Humans ; Child ; Syndrome
SCR Disease Name:
CATSHL syndrome; Lacrimoauriculodentodigital syndrome
Czasopismo naukowe
Tytuł:
Herlyn-Werner-Wunderlich syndrome: value of 3D ultrasound, 3D sonovaginography and virtual navigation in diagnosis of Müllerian malformations.
Autorzy:
Perilla AB; Department of Gynecology, Paulista School of Medicine - Federal University of São Paulo (EPM-UNIFESP), São Paulo, Brazil.
Dardes RDCM; Department of Gynecology, Paulista School of Medicine - Federal University of São Paulo (EPM-UNIFESP), São Paulo, Brazil.
Nunes MG; Department of Gynecology, Paulista School of Medicine - Federal University of São Paulo (EPM-UNIFESP), São Paulo, Brazil.
Araujo Júnior E; Department of Obstetrics, Paulista School of Medicine - Federal University of São Paulo (EPM-UNIFESP), São Paulo, Brazil.
Werner H; Department of Fetal Medicine, Biodesign Laboratory DASA/PUC, Rio de Janeiro, Brazil.; Department of Radiology, Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil.
Ribeiro G; Department of Fetal Medicine, Biodesign Laboratory DASA/PUC, Rio de Janeiro, Brazil.
Castro PT; Department of Fetal Medicine, Biodesign Laboratory DASA/PUC, Rio de Janeiro, Brazil.
Takano CC; Department of Gynecology, Paulista School of Medicine - Federal University of São Paulo (EPM-UNIFESP), São Paulo, Brazil.
Cossi PS; Department of Gynecology, Paulista School of Medicine - Federal University of São Paulo (EPM-UNIFESP), São Paulo, Brazil.
Schor E; Department of Gynecology, Paulista School of Medicine - Federal University of São Paulo (EPM-UNIFESP), São Paulo, Brazil.
Pokaż więcej
Źródło:
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology [Ultrasound Obstet Gynecol] 2024 Mar; Vol. 63 (3), pp. 424-425.
Typ publikacji:
Letter
MeSH Terms:
Abnormalities, Multiple*
Urogenital Abnormalities*/diagnostic imaging
Uterus/*abnormalities
Humans ; Ultrasonography
SCR Disease Name:
Uterine Anomalies
Opinia redakcyjna

Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies