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Tytuł:
[Neonatal cri-du-chat syndrome revelead by facial dysmorphism and weak suction: a case report].
Autorzy:
Bouh AH; Département de Pédiatrie-Néonatologie, Hôpital Universitaire International Mohammed VI, Université Mohammed VI des Sciences et de la Santé, Casablanca, Maroc.
Nejjari M; Département de Pédiatrie-Néonatologie, Hôpital Universitaire International Mohammed VI, Université Mohammed VI des Sciences et de la Santé, Casablanca, Maroc.
Hassan AO; Département de Pédiatrie-Néonatologie, Hôpital Universitaire International Mohammed VI, Université Mohammed VI des Sciences et de la Santé, Casablanca, Maroc.
Dini N; Faculté de Médecine et Pharmacie, Université Mohammed V, Rabat, Maroc.
Ammari IA; Département de Pédiatrie-Néonatologie, Hôpital Universitaire International Mohammed VI, Université Mohammed VI des Sciences et de la Santé, Casablanca, Maroc.
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Transliterated Title:
Syndrome de cri du chat révélé par une dysmorphie cranio-faciale et faible succion chez un nouveau-né: à propos d’un cas.
Źródło:
The Pan African medical journal [Pan Afr Med J] 2023 Dec 19; Vol. 46, pp. 109. Date of Electronic Publication: 2023 Dec 19 (Print Publication: 2023).
Typ publikacji:
Case Reports; English Abstract
MeSH Terms:
Cri-du-Chat Syndrome*/diagnosis
Musculoskeletal Abnormalities*
Infant, Newborn ; Female ; Pregnancy ; Male ; Humans ; In Situ Hybridization, Fluorescence ; Suction ; Muscle Hypotonia
Raport
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Cri du chat syndrome patients have DNA methylation changes in genes linked to symptoms of the disease.
Autorzy:
Holland P; Department of Microbiology, Oslo University Hospital, Oslo, Norway.
Wildhagen M; Department of Microbiology, Oslo University Hospital, Oslo, Norway.
Istre M; Department of Microbiology, Oslo University Hospital, Oslo, Norway.
Reiakvam OM; Department of Microbiology, Oslo University Hospital, Oslo, Norway.
Dahl JA; Department of Microbiology, Oslo University Hospital, Oslo, Norway.
Søraas A; Department of Microbiology, Oslo University Hospital, Oslo, Norway. .
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Źródło:
Clinical epigenetics [Clin Epigenetics] 2022 Oct 14; Vol. 14 (1), pp. 128. Date of Electronic Publication: 2022 Oct 14.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Cri-du-Chat Syndrome*/diagnosis
Cri-du-Chat Syndrome*/genetics
Chromosome Deletion ; Chromosomes, Human, Pair 5 ; DNA Methylation ; Histones/genetics ; Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin.
Autorzy:
Spaan AN; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.; Department of Medical Microbiology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, Netherlands.
Neehus AL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Cité University, 75015 Paris, France.; Institute of Experimental Hematology, REBIRTH Research Center for Translational and Regenerative Medicine, Hannover Medical School, 30625 Hannover, Germany.
Laplantine E; Centre d'Immunologie et des Maladies Infectieuses, INSERM U1135, CNRS ERL8255, Sorbonne University, 75724 Paris, France.; Institut de Recherche St. Louis, Hôpital St. Louis, INSERM U944, CNRS U7212, Paris Cité University, 75010 Paris, France.
Staels F; Laboratory for Adaptive Immunology, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium.
Ogishi M; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
Seeleuthner Y; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Cité University, 75015 Paris, France.
Rapaport F; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
Lacey KA; Department of Microbiology, New York University Grossman School of Medicine, New York, NY 10016, USA.
Van Nieuwenhove E; Laboratory for Adaptive Immunology, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium.; Department of Pediatric Rheumatology and Immunology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, Netherlands.
Chrabieh M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Cité University, 75015 Paris, France.
Hum D; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
Migaud M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Cité University, 75015 Paris, France.
Izmiryan A; Imagine Institute, Paris Cité University, 75015 Paris, France.; Laboratory of Genetic Skin Diseases, INSERM U1163, 75015 Paris, France.
Lorenzo L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Cité University, 75015 Paris, France.
Kochetkov T; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
Heesterbeek DAC; Department of Medical Microbiology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, Netherlands.
Bardoel BW; Department of Medical Microbiology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, Netherlands.
DuMont AL; Department of Microbiology, New York University Grossman School of Medicine, New York, NY 10016, USA.
Dobbs K; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD 20852, USA.
Chardonnet S; Plateforme Post-génomique de la Pitié-Salpêtrière, P3S, UMS Production et Analyse de données en Sciences de la vie et en Santé, PASS, INSERM, Sorbonne University, 75013 Paris, France.
Heissel S; Proteomics Resource Center, The Rockefeller University, New York, NY 10065, USA.
Baslan T; Cancer Biology and Genetics Program, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.
Zhang P; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
Yang R; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
Bogunovic D; Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Wunderink HF; Department of Medical Microbiology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, Netherlands.
Haas PA; Department of Medical Microbiology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, Netherlands.
Molina H; Proteomics Resource Center, The Rockefeller University, New York, NY 10065, USA.
Van Buggenhout G; Department of Human Genetics, KU Leuven, 3000 Leuven, Belgium.; Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium.
Lyonnet S; Imagine Institute, Paris Cité University, 75015 Paris, France.; Laboratory Embryology and Genetics of Malformations, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.
Notarangelo LD; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD 20852, USA.
Seppänen MRJ; Rare Disease and Pediatric Research Centers, Children and Adolescents, University of Helsinki and HUS Helsinki University Hospital, 00260 Helsinki, Finland.
Weil R; Centre d'Immunologie et des Maladies Infectieuses, INSERM U1135, CNRS ERL8255, Sorbonne University, 75724 Paris, France.
Seminario G; Center for Clinical Immunology, Immunology Group Children's Hospital Ricardo Gutiérrez, C1425EFD Buenos Aires, Argentina.
Gomez-Tello H; Immunology Department, Poblano Children's Hospital, 72190 Puebla, Mexico.
Wouters C; Laboratory for Adaptive Immunology, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium.; Department of Pediatrics, University Hospitals Leuven, 3000 Leuven, Belgium.
Mesdaghi M; Department of Allergy and Clinical Immunology, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, 15468-155514 Tehran, Iran.
Shahrooei M; Clinical and Diagnostic Immunology, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium.; Specialized Immunology Laboratory of Dr. Shahrooei, Sina Medical Complex, 15468-155514 Ahvaz, Iran.
Bossuyt X; Clinical and Diagnostic Immunology, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium.
Sag E; Department of Pediatric Rheumatology, Hacettepe University, 06230 Ankara, Turkey.
Topaloglu R; Department of Pediatric Nephrology, Hacettepe University School of Medicine, Hacettepe University, 06230 Ankara, Turkey.
Ozen S; Department of Pediatric Rheumatology, Hacettepe University, 06230 Ankara, Turkey.
Leavis HL; Department of Rheumatology and Clinical Immunology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, Netherlands.
van Eijk MMJ; Department of Intensive Care Medicine, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, Netherlands.
Bezrodnik L; Center for Clinical Immunology, Immunology Group Children's Hospital Ricardo Gutiérrez, C1425EFD Buenos Aires, Argentina.
Blancas Galicia L; Immune Deficiencies Laboratory National Institute of Pediatrics, 04530 Mexico City, Mexico.
Hovnanian A; Imagine Institute, Paris Cité University, 75015 Paris, France.; Laboratory of Genetic Skin Diseases, INSERM U1163, 75015 Paris, France.; Department of Genetics, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France.
Nassif A; Centre Médical, Institut Pasteur, 75724 Paris, France.
Bader-Meunier B; Imagine Institute, Paris Cité University, 75015 Paris, France.; Pediatric Immunology, Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France.; Laboratory of Immunogenetics of Pediatric Autoimmunity, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.
Neven B; Imagine Institute, Paris Cité University, 75015 Paris, France.; Pediatric Immunology, Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France.; Laboratory of Immunogenetics of Pediatric Autoimmunity, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.
Meyts I; Laboratory of Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium.; Department of Pediatrics, Jeffrey Modell Diagnostic and Research Network Center, University Hospitals Leuven, 3000 Leuven, Belgium.
Schrijvers R; Allergy and Clinical Immunology Research Group, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium.
Puel A; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Cité University, 75015 Paris, France.
Bustamante J; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Cité University, 75015 Paris, France.; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France.
Aksentijevich I; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD 20892, USA.
Kastner DL; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD 20892, USA.
Torres VJ; Department of Microbiology, New York University Grossman School of Medicine, New York, NY 10016, USA.
Humblet-Baron S; Laboratory for Adaptive Immunology, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium.
Liston A; Laboratory for Adaptive Immunology, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium.; VIB Center for Brain and Disease Research, Leuven 3000, Belgium.; Immunology Programme, Babraham Institute, Babraham Research Campus, Cambridge CB22 3AT, UK.
Abel L; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Cité University, 75015 Paris, France.
Boisson B; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Cité University, 75015 Paris, France.
Casanova JL; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Cité University, 75015 Paris, France.; Department of Pediatrics, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France.; Howard Hughes Medical Institute, The Rockefeller University, New York, NY 10065, USA.
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Źródło:
Science (New York, N.Y.) [Science] 2022 Jun 17; Vol. 376 (6599), pp. eabm6380. Date of Electronic Publication: 2022 Jun 17.
Typ publikacji:
Journal Article
MeSH Terms:
Bacterial Toxins*/immunology
Cri-du-Chat Syndrome*/genetics
Cri-du-Chat Syndrome*/immunology
Endopeptidases*/genetics
Haploinsufficiency*/genetics
Haploinsufficiency*/immunology
Hemolysin Proteins*/immunology
Staphylococcal Infections*/genetics
Staphylococcal Infections*/immunology
Staphylococcal Infections*/pathology
Staphylococcus aureus*
Host-Pathogen Interactions/genetics ; Host-Pathogen Interactions/immunology ; Humans ; Immunity, Cellular/genetics ; Necrosis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
18F-FDG PET brain findings in disease-discordant monozygotic mosaic twins with Cri du Chat (5p-) syndrome.
Autorzy:
Cistaro A; Scientific Committee of Associazione Bambini Cri Du Chat (ABC), Florence, Italy.; AIMN Pediatric Study Group, Milan, Italy.; Nuclear Medicine Department, Salus Alliance Medical, Genoa, Italy.
Schiera IG; Independent Neurobiologist, Palermo, Italy.
Fania P; Independent Data Scientist, Turin, Italy.
Tognon F; Scientific Committee of Associazione Bambini Cri Du Chat (ABC), Florence, Italy.
Liava A; Scientific Committee of Associazione Bambini Cri Du Chat (ABC), Florence, Italy.; Child Neuropsychiatric Unit, Castelli Hospital, Verbania, Italy.
Danesino C; Scientific Committee of Associazione Bambini Cri Du Chat (ABC), Florence, Italy.; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Albani G; Scientific Committee of Associazione Bambini Cri Du Chat (ABC), Florence, Italy.; Department of Neurology, Istituto Auxologico Italiano, IRCCS, Piancavallo-Verbania, Italy.
Guala A; Scientific Committee of Associazione Bambini Cri Du Chat (ABC), Florence, Italy.; Division of Paediatrics, Castelli Hospital, Verbania, Italy.
Vogrig A; Clinical Neurology Unit, Santa Maria Della Misericordia University Hospital, Udine, Italy.
Quartuccio N; Nuclear Medicine Unit, ARNAS Ospedali Civico, Di Cristina E Benfratelli, Palermo, Italy.
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Źródło:
Neurocase [Neurocase] 2021 Jun; Vol. 27 (3), pp. 319-322. Date of Electronic Publication: 2021 Aug 02.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Cri-du-Chat Syndrome*
Fluorodeoxyglucose F18*
Cerebellum ; Humans ; Positron-Emission Tomography ; Twins, Monozygotic
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Retinopathy in a Full-Term Infant with Cri-du-Chat Syndrome.
Autorzy:
Chhaya N; Division of Ophthalmology, Alpert Medical School of Brown University, Providence, RI.
Chan T; Division of Ophthalmology, Alpert Medical School of Brown University, Providence, RI.
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Źródło:
Rhode Island medical journal (2013) [R I Med J (2013)] 2021 Feb 01; Vol. 104 (1), pp. 37-39. Date of Electronic Publication: 2021 Feb 01.
Typ publikacji:
Journal Article
MeSH Terms:
Cri-du-Chat Syndrome*/genetics
Retinal Diseases*/surgery
Chromosome Deletion ; Female ; Humans ; Infant ; Infant, Newborn ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Clinical and molecular characterization of 12 prenatal cases of Cri-du-chat syndrome.
Autorzy:
Peng Y; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.; National Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment, Changsha, Hunan, China.
Pang J; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.; National Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment, Changsha, Hunan, China.
Hu J; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.; National Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment, Changsha, Hunan, China.
Jia Z; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.; National Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment, Changsha, Hunan, China.
Xi H; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.; National Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment, Changsha, Hunan, China.
Ma N; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.; National Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment, Changsha, Hunan, China.
Yang S; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.; National Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment, Changsha, Hunan, China.
Liu J; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.; National Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment, Changsha, Hunan, China.
Huang X; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.; National Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment, Changsha, Hunan, China.
Tang C; Department of Nephrology, Hunan Key Laboratory of Kidney Disease and Blood Purification, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Wang H; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.; National Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment, Changsha, Hunan, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Aug; Vol. 8 (8), pp. e1312. Date of Electronic Publication: 2020 Jun 04.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Phenotype*
Polymorphism, Single Nucleotide*
Chromosomes, Human, Pair 5/*genetics
Cri-du-Chat Syndrome/*genetics
Adult ; Chromosome Deletion ; Cri-du-Chat Syndrome/diagnostic imaging ; Cri-du-Chat Syndrome/pathology ; Female ; Haploinsufficiency ; Humans ; Karyotyping/methods ; Male ; Noninvasive Prenatal Testing/methods ; Oligonucleotide Array Sequence Analysis/methods ; Ultrasonography, Prenatal/methods
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Prenatal Diagnosis of 5p Deletion Syndrome with Brain Abnormalities by Ultrasonography and Fetal Magnetic Resonance Imaging: A Case Report.
Autorzy:
Kaymak D; Department of Obstetrics and Gynecology, Faculty of Medicine, Istanbul University Cerrahpasa, Istanbul, Turkey.
Alpay V; Department of Obstetrics and Gynecology, Faculty of Medicine, Istanbul University Cerrahpasa, Istanbul, Turkey.
Erenel H; Department of Obstetrics and Gynecology, Division of Perinatology, Faculty of Medicine, Istanbul University Cerrahpasa, Istanbul, Turkey.
Adaletli İ; Department of Radiology, Faculty of Medicine, Istanbul University Cerrahpasa, Istanbul, Turkey.
Comunoglu N; Department of Pathology, Faculty of Medicine, Istanbul University Cerrahpasa, Istanbul, Turkey.
Madazli R; Department of Obstetrics and Gynecology, Faculty of Medicine, Istanbul University Cerrahpasa, Istanbul, Turkey.
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Źródło:
Fetal and pediatric pathology [Fetal Pediatr Pathol] 2020 Oct; Vol. 39 (5), pp. 446-451. Date of Electronic Publication: 2019 Sep 25.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Cri-du-Chat Syndrome*/diagnosis
Cri-du-Chat Syndrome*/genetics
Child ; Female ; Humans ; Infant, Newborn ; Magnetic Resonance Imaging ; Magnetic Resonance Spectroscopy ; Pregnancy ; Prenatal Diagnosis ; Ultrasonography ; Ultrasonography, Prenatal
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Breakpoint delineation in 5p- patients leads to new insights about microcephaly and the typical high-pitched cry.
Autorzy:
Chehimi SN; Laboratório de Citogenômica, Departamento de Patologia, Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, Brazil.; Unidade de Genética, Departamento de Pediatria, Instituto da Criança, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.
Zanardo ÉA; Laboratório de Citogenômica, Departamento de Patologia, Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, Brazil.
Ceroni JRM; Unidade de Genética, Departamento de Pediatria, Instituto da Criança, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.
Nascimento AM; Laboratório de Citogenômica, Departamento de Patologia, Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, Brazil.
Madia FAR; Laboratório de Citogenômica, Departamento de Patologia, Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, Brazil.
Dias AT; Laboratório de Citogenômica, Departamento de Patologia, Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, Brazil.
Filho GMN; Laboratório de Citogenômica, Departamento de Patologia, Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, Brazil.
Montenegro MM; Laboratório de Citogenômica, Departamento de Patologia, Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, Brazil.
Damasceno J; Laboratório de Citogenômica, Departamento de Patologia, Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, Brazil.
Costa TVMM; Laboratório de Citogenômica, Departamento de Patologia, Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, Brazil.
Gasparini Y; Laboratório de Citogenômica, Departamento de Patologia, Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, Brazil.
Kim CA; Unidade de Genética, Departamento de Pediatria, Instituto da Criança, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.
Kulikowski LD; Laboratório de Citogenômica, Departamento de Patologia, Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, Brazil.; Unidade de Genética, Departamento de Pediatria, Instituto da Criança, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Feb; Vol. 8 (2), pp. e957. Date of Electronic Publication: 2019 Sep 30.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosome Breakpoints*
Cri-du-Chat Syndrome/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; Chromosomes, Human, Pair 5/genetics ; Cri-du-Chat Syndrome/pathology ; DNA Copy Number Variations ; Female ; Humans ; Male ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Effects of Oral Stimulation Intervention in Newborn Babies with Cri du Chat Syndrome: Single-Subject Research Design.
Autorzy:
Kim MK; Department of Occupational Therapy, Sanggye Paik Hospital, Seoul, Republic of Korea.
Kim DJ; Department of Occupational Therapy, Health Science College, Cheongju University, Cheongju, Republic of Korea.
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Źródło:
Occupational therapy international [Occup Ther Int] 2018 May 08; Vol. 2018, pp. 6573508. Date of Electronic Publication: 2018 May 08 (Print Publication: 2018).
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Cri-du-Chat Syndrome/*rehabilitation
Deglutition Disorders/*rehabilitation
Infant, Premature, Diseases/*rehabilitation
Myofunctional Therapy/*methods
Cri-du-Chat Syndrome/complications ; Cri-du-Chat Syndrome/psychology ; Deglutition Disorders/etiology ; Humans ; Infant, Newborn ; Infant, Premature ; Infant, Premature, Diseases/psychology ; Male ; Sucking Behavior
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Prenatal Diagnosis of Fetal Trisomy 5 Mosaicism with Congenital Pulmonary Airway Malformation Type 3: A Case Report.
Autorzy:
Bonasoni MP; Pathology, Azienda Unita Sanitaria Locale-IRCCS Tecnologie Avanzate e Modelli Assistenziali in Oncologia di Reggio Emilia, Italy.
Comitini G; Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Tonni G; Obstetrics and Gynecology, Azienda Unità Sanitaria Locale di Reggio Emilia, Reggio Emilia, Italy.
Asioli S; Pathology, Azienda Unita Sanitaria Locale della Romagna Forli, Italy.
Barbieri V; Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Rinaldini M; Cytogenetics Laboratory, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Marinelli M; Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
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Źródło:
Fetal and pediatric pathology [Fetal Pediatr Pathol] 2022 Jun; Vol. 41 (3), pp. 516-522. Date of Electronic Publication: 2020 Oct 14.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Cystic Adenomatoid Malformation of Lung, Congenital*
Trisomy*/diagnosis
Trisomy*/genetics
Adult ; Amniocentesis/methods ; Chromosomes, Human, Pair 5 ; Comparative Genomic Hybridization ; Cri-du-Chat Syndrome ; Female ; Fetal Growth Retardation/diagnosis ; Fetus ; Humans ; In Situ Hybridization, Fluorescence ; Mosaicism ; Pregnancy ; Prenatal Diagnosis ; Uniparental Disomy
SCR Disease Name:
Chromosome 5, uniparental disomy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Cri-Du-Chat Syndrome: Clinical Profile and Chromosomal Microarray Analysis in Six Patients.
Autorzy:
Espirito Santo LD; Post-Graduate Program in Genetics and Biodiversity, Universidade Federal da Bahia, Campus Ondina, 40170-290 Salvador, BA, Brazil.
Moreira LM; Post-Graduate Program in Genetics and Biodiversity, Universidade Federal da Bahia, Campus Ondina, 40170-290 Salvador, BA, Brazil.
Riegel M; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos 2350, 90035-903 Porto Alegre, RS, Brazil; Post-Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), 91501-970 Porto Alegre, RS, Brazil.
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Źródło:
BioMed research international [Biomed Res Int] 2016; Vol. 2016, pp. 5467083. Date of Electronic Publication: 2016 Apr 07.
Typ publikacji:
Journal Article
MeSH Terms:
Chromosomes, Human, Pair 5*/genetics
Chromosomes, Human, Pair 5*/metabolism
Cri-du-Chat Syndrome*/genetics
Cri-du-Chat Syndrome*/metabolism
Cri-du-Chat Syndrome*/pathology
Cri-du-Chat Syndrome*/physiopathology
Developmental Disabilities*/metabolism
Developmental Disabilities*/pathology
Developmental Disabilities*/physiopathology
Oligonucleotide Array Sequence Analysis*
Adolescent ; Child ; Child, Preschool ; Female ; Follow-Up Studies ; Humans ; Male
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions.
Autorzy:
Kucharik M; Geneton Ltd., Bratislava, Slovakia.; Comenius University Science Park, Bratislava, Slovakia.
Gnip A; Medirex Inc., Bratislava, Slovakia.; TrisomyTest Ltd., Bratislava, Slovakia.
Hyblova M; Medirex Inc., Bratislava, Slovakia.; TrisomyTest Ltd., Bratislava, Slovakia.
Budis J; Geneton Ltd., Bratislava, Slovakia.; Comenius University Science Park, Bratislava, Slovakia.; Slovak Centre of Scientific and Technical Information, Bratislava, Slovakia.
Strieskova L; Geneton Ltd., Bratislava, Slovakia.
Harsanyova M; Geneton Ltd., Bratislava, Slovakia.; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia.
Pös O; Geneton Ltd., Bratislava, Slovakia.; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia.
Kubiritova Z; Geneton Ltd., Bratislava, Slovakia.; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia.; Institute of Clinical and Translational Research, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.
Radvanszky J; Geneton Ltd., Bratislava, Slovakia.; Institute of Clinical and Translational Research, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.
Minarik G; Medirex Inc., Bratislava, Slovakia.; TrisomyTest Ltd., Bratislava, Slovakia.
Szemes T; Geneton Ltd., Bratislava, Slovakia.; Comenius University Science Park, Bratislava, Slovakia.; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia.
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Źródło:
PloS one [PLoS One] 2020 Aug 26; Vol. 15 (8), pp. e0238245. Date of Electronic Publication: 2020 Aug 26 (Print Publication: 2020).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Limit of Detection*
Chromosome Mapping/*methods
Noninvasive Prenatal Testing/*methods
Whole Genome Sequencing/*methods
Cell-Free Nucleic Acids/analysis ; Chromosome Deletion ; Chromosome Disorders/diagnosis ; Chromosome Disorders/genetics ; Chromosomes, Human, Pair 1/genetics ; Cri-du-Chat Syndrome/diagnosis ; Cri-du-Chat Syndrome/genetics ; DiGeorge Syndrome/diagnosis ; DiGeorge Syndrome/genetics ; Female ; Humans ; Prader-Willi Syndrome/diagnosis ; Prader-Willi Syndrome/genetics ; Pregnancy ; Prenatal Care ; Wolf-Hirschhorn Syndrome/diagnosis ; Wolf-Hirschhorn Syndrome/genetics
SCR Disease Name:
Chromosome 1p36 Deletion Syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The molecular pathogenesis of the myelodysplastic syndromes.
Autorzy:
Pellagatti A; Leukaemia & Lymphoma Research Molecular Haematology Unit, Nuffield Division of Clinical Laboratory Sciences, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
Boultwood J; Leukaemia & Lymphoma Research Molecular Haematology Unit, Nuffield Division of Clinical Laboratory Sciences, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
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Źródło:
European journal of haematology [Eur J Haematol] 2015 Jul; Vol. 95 (1), pp. 3-15. Date of Electronic Publication: 2015 Feb 20.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:
Chromosome Deletion*
Cri-du-Chat Syndrome*
Mutation*
RNA Splicing*
Trisomy*
Myelodysplastic Syndromes/*genetics
Chromosomes, Human, Pair 5 ; DNA (Cytosine-5-)-Methyltransferases/genetics ; DNA (Cytosine-5-)-Methyltransferases/metabolism ; Epigenesis, Genetic ; Haploinsufficiency ; Humans ; Myelodysplastic Syndromes/diagnosis ; Myelodysplastic Syndromes/metabolism ; Myelodysplastic Syndromes/pathology ; Prognosis ; Ribonucleoproteins/genetics ; Ribonucleoproteins/metabolism ; Spliceosomes ; Transcription Factors/genetics ; Transcription Factors/metabolism
SCR Disease Name:
Chromosome 5, trisomy 5q
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Cri-du-chat syndrome.
Autorzy:
Nandhagopal R; Neurology Unit, Department of Medicine, Genetics Sultan Qaboos University Hospital, Muscat, Oman.
Udayakumar AM
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Źródło:
The Indian journal of medical research [Indian J Med Res] 2014 Oct; Vol. 140 (4), pp. 570-1.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Diagnostic Imaging*
Brain/*diagnostic imaging
Cri-du-Chat Syndrome/*diagnostic imaging
Adult ; Brain/physiopathology ; Cri-du-Chat Syndrome/genetics ; Cri-du-Chat Syndrome/pathology ; Female ; Humans ; Infant ; Karyotype ; Magnetic Resonance Imaging ; Radiography
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Age-related Behavioural Change in Cornelia de Lange and Cri du Chat Syndromes: A Seven Year Follow-up Study.
Autorzy:
Cochran L; Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK.
Welham A; Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK. .; University of Leicester, Leicester, UK. .
Oliver C; Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK.
Arshad A; College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
Moss JF; Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK.; Institute of Cognitive Neuroscience, University College London, London, UK.
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Źródło:
Journal of autism and developmental disorders [J Autism Dev Disord] 2019 Jun; Vol. 49 (6), pp. 2476-2487.
Typ publikacji:
Journal Article
MeSH Terms:
Autism Spectrum Disorder/*diagnosis
Cri-du-Chat Syndrome/*diagnosis
De Lange Syndrome/*diagnosis
Adaptation, Psychological ; Adult ; De Lange Syndrome/epidemiology ; Female ; Follow-Up Studies ; Humans ; Male
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report.
Autorzy:
Vado Y; Rare Diseases Research Group. Molecular (Epi)Genetics Laboratory, BioAraba Health Research Institute, OSI Araba University Hospital, Vitoria-Gasteiz, Araba, Spain.; Laboratory of Pharmacy and Pharmaceutical Technology, Faculty of Pharmacy, University of the Basque Country (UPV/EHU), Vitoria-Gasteiz, Araba, Spain.
Errea-Dorronsoro J; Rare Diseases Research Group. Molecular (Epi)Genetics Laboratory, BioAraba Health Research Institute, OSI Araba University Hospital, Vitoria-Gasteiz, Araba, Spain.
Llano-Rivas I; Service of Genetics, BioCruces Bizkaia Health Research Institute, Hospital Universitario Cruces, Barakaldo, Bizkaia, Spain.
Gorria N; Service of Pediatric Neurology, BioAraba Health Research Institute, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Araba, Spain.
Pereda A; Rare Diseases Research Group. Molecular (Epi)Genetics Laboratory, BioAraba Health Research Institute, OSI Araba University Hospital, Vitoria-Gasteiz, Araba, Spain.
Gener B; Service of Genetics, BioCruces Bizkaia Health Research Institute, Hospital Universitario Cruces, Barakaldo, Bizkaia, Spain.
Garcia-Naveda L; Service of Genetics, BioCruces Bizkaia Health Research Institute, Hospital Universitario Cruces, Barakaldo, Bizkaia, Spain.
Perez de Nanclares G; Rare Diseases Research Group. Molecular (Epi)Genetics Laboratory, BioAraba Health Research Institute, OSI Araba University Hospital, Vitoria-Gasteiz, Araba, Spain. .
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Źródło:
BMC medical genomics [BMC Med Genomics] 2018 Dec 27; Vol. 11 (1), pp. 124. Date of Electronic Publication: 2018 Dec 27.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Silver-Russell Syndrome/*diagnosis
Child ; Chromosomes, Human, Pair 5 ; Comparative Genomic Hybridization ; Cri-du-Chat Syndrome/diagnosis ; Cri-du-Chat Syndrome/genetics ; Diagnosis, Differential ; Female ; Gene Deletion ; Humans ; Karyotyping ; Silver-Russell Syndrome/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Cri du Chat syndrome: Characteristics of 73 Brazilian patients.
Autorzy:
Honjo RS; Department of Pediatrics - Unidade de Genética do Instituto da Criança, HCFMUSP, Brazil.
Mello CB; Departamento de Psicobiologia, EPM/UNIFESP, Brazil.
Pimenta LSE
Nuñes-Vaca EC; Department of Pediatrics - Unidade de Genética do Instituto da Criança, HCFMUSP, Brazil.
Benedetto LM; Departamento de Psicobiologia, EPM/UNIFESP, Brazil.
Khoury RBF; Department of Pediatrics - Unidade de Genética do Instituto da Criança, HCFMUSP, Brazil.
Befi-Lopes DM; Departamento de Fisioterapia Fonoaudiologia e Terapia Ocupacional, FMUSP, Brazil.
Kim CA; Department of Pediatrics - Unidade de Genética do Instituto da Criança, HCFMUSP, Brazil.
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Źródło:
Journal of intellectual disability research : JIDR [J Intellect Disabil Res] 2018 Jun; Vol. 62 (6), pp. 467-473. Date of Electronic Publication: 2018 Feb 20.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Health Status*
Cognition Disorders/*complications
Cri-du-Chat Syndrome/*complications
Cri-du-Chat Syndrome/*physiopathology
Mental Disorders/*complications
Adolescent ; Adult ; Brazil ; Child ; Child, Preschool ; Cognition Disorders/physiopathology ; Comorbidity ; Female ; Humans ; Infant ; Male ; Mental Disorders/physiopathology ; Parents ; Phenotype ; Surveys and Questionnaires ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A coalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5.
Autorzy:
Krgovic D
Blatnik A
Burmas A
Zagorac A
Kokalj Vokac N; Laboratory of Medical Genetics, University Clinical Centre Maribor, Ljubljanska Street 5, 2000 Maribor, Slovenia. .
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Źródło:
BMC medical genetics [BMC Med Genet] 2014 Feb 11; Vol. 15, pp. 21. Date of Electronic Publication: 2014 Feb 11.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosome Deletion*
Chromosome Duplication*
Chromosomes, Human, Pair 5/*genetics
Cri-du-Chat Syndrome/*genetics
Comparative Genomic Hybridization ; Cri-du-Chat Syndrome/complications ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Pregnancy
SCR Disease Name:
Chromosome 5, trisomy 5p
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Síndrome Cri Du Chat: relato de um caso neonatal e evolução até os nove meses de idade
Autorzy:
Layssa Marinho Aguiar
Carlos Alberto Moreno Zaconeta
Tatiane Martins Barcelos
Aldo Roberto Ferrini Filho
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Temat:
cri-du-chat syndrome
chromosome deletion
microcephaly
Pediatrics
RJ1-570
Źródło:
Residência Pediátrica, Vol 13, Iss 4 (2023)
Opis pliku:
electronic resource
Relacje:
https://cdn.publisher.gn1.link/residenciapediatrica.com.br/pdf/v13n4aop671.pdf; https://doaj.org/toc/2236-6814
Dostęp URL:
https://doaj.org/article/5e1a8779ed974aefbdbece1038d16545  Link otwiera się w nowym oknie
Czasopismo naukowe
Szczegóły
Tytuł:
A familial Cri-du-Chat/5p deletion syndrome resulted from rare maternal complex chromosomal rearrangements (CCRs) and/or possible chromosome 5p chromothripsis.
Autorzy:
Gu H; Department of Medical Genetics, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, PR China ; Family Planning Research Institute of Guangdong, Guangzhou, PR China.
Jiang JH
Li JY
Zhang YN
Dong XS
Huang YY
Son XM
Lu X
Chen Z
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Źródło:
PloS one [PLoS One] 2013 Oct 15; Vol. 8 (10), pp. e76985. Date of Electronic Publication: 2013 Oct 15 (Print Publication: 2013).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosome Aberrations*
Pedigree*
Chromosomes, Human, Pair 5/*genetics
Cri-du-Chat Syndrome/*genetics
Child ; Child, Preschool ; Cri-du-Chat Syndrome/diagnosis ; Female ; Humans ; Male ; Microsatellite Repeats/genetics ; Mothers ; Pregnancy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Wyświetlanie 1-20 z 348

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