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Wyszukujesz frazę ""Wolf-Hirschhorn Syndrome"" wg kryterium: Temat


Tytuł :
The First Korean Case of De Novo Proximal 4p Deletion Syndrome in a Child With Developmental Delay.
Autorzy :
Park S; Department of Pediatrics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea.
Jeon BR; Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea.
Lee YK; Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea.
Ki CS; GC Genome, Yongin, Korea.
Jang MA; Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea.
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Źródło :
Annals of laboratory medicine [Ann Lab Med] 2020 Sep; Vol. 40 (5), pp. 435-437.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Developmental Disabilities/*diagnosis
Wolf-Hirschhorn Syndrome/*diagnosis
Child, Preschool ; Chromosome Deletion ; Chromosomes, Human, Pair 4/genetics ; Developmental Disabilities/genetics ; Humans ; Karyotyping ; Male ; Republic of Korea ; Wolf-Hirschhorn Syndrome/genetics
Czasopismo naukowe
Tytuł :
[Identification of a critical region on chromosome 4p16.3 for Wolf-Hirschhorn syndrome-associated fetal growth retardation].
Autorzy :
Zheng W; Department of Laboratory Medicine, Xiaolan Hospital of Southern Medical University, Zhongshan, Guangdong 528415, China. .
Chen B
Yin Z
Huang X
Liang Y
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Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2020 Jul 10; Vol. 37 (7), pp. 731-735.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosomes, Human, Pair 3*
Fetal Growth Retardation*/genetics
Wolf-Hirschhorn Syndrome*/genetics
Carrier Proteins ; Chromosome Aberrations ; Chromosome Deletion ; Chromosomes, Human, Pair 4/genetics ; Female ; Humans ; Microtubule-Associated Proteins/genetics ; Nuclear Proteins/genetics ; Phenotype ; Pregnancy ; mRNA Cleavage and Polyadenylation Factors/genetics
Czasopismo naukowe
Tytuł :
Melatonin reverses the oxidative stress and mitochondrial dysfunction caused by LETM1 silencing.
Autorzy :
Aral C; Department of Molecular Biology and Genetics, Faculty of Science and Arts, Namık Kemal University, 59030, Tekirdağ, Turkey.
Demirkesen S; Department of Molecular Biology and Genetics, Faculty of Science and Arts, Namık Kemal University, 59030, Tekirdağ, Turkey.
Bircan R; Department of Molecular Biology and Genetics, Faculty of Science and Arts, Namık Kemal University, 59030, Tekirdağ, Turkey.
Yasar Sirin D; Department of Molecular Biology and Genetics, Faculty of Science and Arts, Namık Kemal University, 59030, Tekirdağ, Turkey.
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Źródło :
Cell biology international [Cell Biol Int] 2020 Mar; Vol. 44 (3), pp. 795-807. Date of Electronic Publication: 2019 Dec 12.
Typ publikacji :
Journal Article
MeSH Terms :
Antioxidants*/pharmacology
Antioxidants*/therapeutic use
Melatonin*/pharmacology
Melatonin*/therapeutic use
Mitochondria/*drug effects
Oxidative Stress/*drug effects
Wolf-Hirschhorn Syndrome/*drug therapy
Wolf-Hirschhorn Syndrome/*metabolism
Animals ; Calcium-Binding Proteins/genetics ; Cation Transport Proteins/genetics ; Cell Line ; Cell Respiration/drug effects ; Embryo, Mammalian ; Fibroblasts ; Gene Silencing ; Mice ; Oxidative Phosphorylation/drug effects ; Oxygen/metabolism ; Reactive Oxygen Species/metabolism ; Superoxide Dismutase/metabolism ; Wolf-Hirschhorn Syndrome/genetics
Czasopismo naukowe
Tytuł :
International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay.
Autorzy :
Nevado J; Medical and Molecular Genetics Institute (INGEMM), La Paz University Hospital, IdiPAZ, Madrid, Spain.; Basic Research Center in the Rare Diseases Network (CIBERER), Madrid, Spain.
Ho KS; Lineagen, Inc., Salt Lake City, Utah.; University of Utah School of Medicine, Utah.; Hopeful Science, Inc., Salt Lake City, Utah.
Zollino M; Institute of Genomic Medicine, Catholic University, A. Gemelli Foundation, Rome, Italy.
Blanco R; Hospital Universitario Central de Asturias, Oviedo, Spain.
Cobaleda C; Centro de Biología Molecular 'Severo Ochoa,' CSIC/UAM, Madrid, Spain.
Golzio C; IGBMC, Illkirch-Graffenstaden, Illkirch-Graffenstaden, France.
Beaudry-Bellefeuille I; Clínica de Terapia Ocupacional Pediátrica Beaudry-Bellefeuille, Oviedo, Spain.
Berrocoso S; Neuro-e-Motion Research Team-University of Deusto, Bilbao, Spain.
Limeres J; Facultad de Medicina y Odontología Universidad de Santiago de Compostela, Santiago, Galicia, Spain.
Barrúz P; Medical and Molecular Genetics Institute (INGEMM), La Paz University Hospital, IdiPAZ, Madrid, Spain.
Serrano-Martín C; Facultad de Medicina y Odontología Universidad de Santiago de Compostela, Santiago, Galicia, Spain.
Cafiero C; Institute of Genomic Medicine, Catholic University, A. Gemelli Foundation, Rome, Italy.
Málaga I; Hospital Universitario Central de Asturias, Oviedo, Spain.
Marangi G; Institute of Genomic Medicine, Catholic University, A. Gemelli Foundation, Rome, Italy.
Campos-Sánchez E; Centro de Biología Molecular 'Severo Ochoa,' CSIC/UAM, Madrid, Spain.
Moriyón-Iglesias T; Clínica de Terapia Ocupacional Pediátrica Beaudry-Bellefeuille, Oviedo, Spain.
Márquez S; Centro Logos, Madrid, Spain.
Markham L; Lineagen, Inc., Salt Lake City, Utah.
Twede H; Lineagen, Inc., Salt Lake City, Utah.
Lortz A; 4p- Support Group, Delaware, Ohio.
Olson L; University of Utah School of Medicine, Utah.
Sheng X; University of Utah School of Medicine, Utah.
Weng C; University of Utah School of Medicine, Utah.
Wassman ER 3rd; University of Colorado, Boulder, Colorado.
Newcomb T; University of Utah School of Medicine, Utah.
Wassman ER; Lineagen, Inc., Salt Lake City, Utah.
Carey JC; University of Utah School of Medicine, Utah.
Battaglia A; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy.
López-Granados E; S. Inmunología, HULP, Madrid, Spain.
Douglas D; Wolf-Hirschhorn Syndrome Trust of the UK and Ireland, Dublin, UK.
Lapunzina P; Medical and Molecular Genetics Institute (INGEMM), La Paz University Hospital, IdiPAZ, Madrid, Spain.; Basic Research Center in the Rare Diseases Network (CIBERER), Madrid, Spain.
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Corporate Authors :
Wolf-Hirschhorn Spain's Working Group
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Jan; Vol. 182 (1), pp. 257-267. Date of Electronic Publication: 2019 Nov 25.
Typ publikacji :
Congress; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosomes, Human, Pair 4/*immunology
Developmental Disabilities/*genetics
Seizures/*genetics
Wolf-Hirschhorn Syndrome/*genetics
Chromosome Deletion ; Chromosomes, Human, Pair 4/genetics ; Developmental Disabilities/epidemiology ; Developmental Disabilities/pathology ; Female ; Humans ; Phenotype ; Seizures/epidemiology ; Seizures/therapy ; Spain/epidemiology ; Wolf-Hirschhorn Syndrome/epidemiology ; Wolf-Hirschhorn Syndrome/therapy
Raport
Tytuł :
Nonossified cervical vertebrae in Wolf-Hirschhorn Syndrome: A case report.
Autorzy :
Hong YM; Department of Obstetrics and Gynecology, Chonbuk National University School of Medicine.; Research Institute of Clinical Medicine of Chonbuk National University-Biomedical Research Institute of Chonbuk National University Hospital, Jeonju, Republic of Korea.
Cho DH; Department of Obstetrics and Gynecology, Chonbuk National University School of Medicine.; Research Institute of Clinical Medicine of Chonbuk National University-Biomedical Research Institute of Chonbuk National University Hospital, Jeonju, Republic of Korea.
Kim JK; Department of Pediatrics, Chonbuk National University School of Medicine.; Research Institute of Clinical Medicine of Chonbuk National University-Biomedical Research Institute of Chonbuk National University Hospital, Jeonju, Republic of Korea.
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Źródło :
Medicine [Medicine (Baltimore)] 2019 Dec; Vol. 98 (50), pp. e18268.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Bone Diseases, Developmental/*etiology
Cervical Vertebrae/*pathology
Chromosomes, Human, Pair 4/*genetics
Wolf-Hirschhorn Syndrome/*complications
Bone Diseases, Developmental/diagnosis ; Bone Diseases, Developmental/genetics ; Chromosome Deletion ; Female ; Humans ; Infant, Newborn ; Karyotyping ; Magnetic Resonance Imaging ; Phenotype ; Pregnancy ; Wolf-Hirschhorn Syndrome/diagnosis ; Wolf-Hirschhorn Syndrome/genetics ; Young Adult
Czasopismo naukowe
Tytuł :
50 Years Ago in TheJournal ofPediatrics: Human Chromosomal Deletion: Two Patients with the 4p-Syndrome.
Autorzy :
Andresen JH; Department of Neonatology, Oslo University Hospital, Oslo, Norway.
Saugstad OD; Department of Pediatric Research, University of Oslo, Oslo, Norway; Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
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Źródło :
The Journal of pediatrics [J Pediatr] 2020 Jan; Vol. 216, pp. 72.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Deletion*
Wolf-Hirschhorn Syndrome/*diagnosis
Humans ; Infant ; Wolf-Hirschhorn Syndrome/genetics
Czasopismo naukowe
Tytuł :
De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype.
Autorzy :
Jiang Y; Department of Developmental and Behavioral Pediatrics, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, 1678 Dongfang Road, Shanghai, 200127, People's Republic of China.; MOE-Shanghai Key Laboratory of Children's Environmental Health, Shanghai, 200127, People's Republic of China.
Sun H; Department of Urology, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, People's Republic of China.
Lin Q; Department of Developmental and Behavioral Pediatrics, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, 1678 Dongfang Road, Shanghai, 200127, People's Republic of China.; MOE-Shanghai Key Laboratory of Children's Environmental Health, Shanghai, 200127, People's Republic of China.
Wang Z; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, 1678 Dongfang Road, Shanghai, 200127, People's Republic of China.
Wang G; Department of Developmental and Behavioral Pediatrics, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, 1678 Dongfang Road, Shanghai, 200127, People's Republic of China.; MOE-Shanghai Key Laboratory of Children's Environmental Health, Shanghai, 200127, People's Republic of China.
Wang J; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, 1678 Dongfang Road, Shanghai, 200127, People's Republic of China.
Jiang F; Department of Developmental and Behavioral Pediatrics, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, 1678 Dongfang Road, Shanghai, 200127, People's Republic of China. .; MOE-Shanghai Key Laboratory of Children's Environmental Health, Shanghai, 200127, People's Republic of China. .
Yao R; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, 1678 Dongfang Road, Shanghai, 200127, People's Republic of China. .
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Źródło :
BMC medical genetics [BMC Med Genet] 2019 Aug 05; Vol. 20 (1), pp. 134. Date of Electronic Publication: 2019 Aug 05.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Phenotype*
Genetic Predisposition to Disease/*genetics
Histone-Lysine N-Methyltransferase/*genetics
Repressor Proteins/*genetics
Wolf-Hirschhorn Syndrome/*genetics
Base Sequence ; Child ; Chromosomes, Human, Pair 4 ; DNA/blood ; Developmental Disabilities/genetics ; Humans ; Intellectual Disability/genetics ; Male ; Seizures/genetics ; Whole Exome Sequencing ; Wolf-Hirschhorn Syndrome/physiopathology
Czasopismo naukowe
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
Tytuł :
Molecular Mechanisms of Leucine Zipper EF-Hand Containing Transmembrane Protein-1 Function in Health and Disease.
Autorzy :
Lin QT; Department of Physiology and Pharmacology, Schulich School of Medicine and Dentistry, The University of Western Ontario, London, ON N6A 5C1, Canada. .
Stathopulos PB; Department of Physiology and Pharmacology, Schulich School of Medicine and Dentistry, The University of Western Ontario, London, ON N6A 5C1, Canada. .
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2019 Jan 12; Vol. 20 (2). Date of Electronic Publication: 2019 Jan 12.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Calcium-Binding Proteins/*genetics
Calcium-Binding Proteins/*metabolism
Membrane Proteins/*genetics
Membrane Proteins/*metabolism
Neoplasms/*genetics
Wolf-Hirschhorn Syndrome/*genetics
Calcium/metabolism ; Calcium-Binding Proteins/chemistry ; Haploinsufficiency ; HeLa Cells ; Humans ; Membrane Proteins/chemistry ; Mitochondria/metabolism ; Models, Molecular ; Neoplasms/metabolism ; Protein Conformation ; Up-Regulation ; Wolf-Hirschhorn Syndrome/metabolism
Czasopismo naukowe
Tytuł :
De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotype.
Autorzy :
Derar N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Al-Hassnan ZN; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Al-Owain M; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Monies D; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
Abouelhoda M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
Meyer BF; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
Moghrabi N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. .; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. .; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia. .
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Jan; Vol. 21 (1), pp. 185-188. Date of Electronic Publication: 2018 Jun 11.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Predisposition to Disease*
Developmental Disabilities/*genetics
Histone-Lysine N-Methyltransferase/*genetics
Repressor Proteins/*genetics
Wolf-Hirschhorn Syndrome/*genetics
Child, Preschool ; Chromosome Deletion ; Comparative Genomic Hybridization ; Developmental Disabilities/diagnosis ; Developmental Disabilities/pathology ; Female ; Haploinsufficiency/genetics ; Humans ; Male ; Phenotype ; Wolf-Hirschhorn Syndrome/diagnosis ; Wolf-Hirschhorn Syndrome/pathology
Czasopismo naukowe
Tytuł :
Risk of hepatic neoplasms in Wolf-Hirschhorn syndrome (4p-): Four new cases and review of the literature.
Autorzy :
Battaglia A; The Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, Pisa, Italy.
Calhoun ARUL; Stead Family Department of Pediatrics, Division of Medical Genetics, University of Iowa, Iowa City, Iowa.
Lortz A; 4p-Support Group, Delaware, Ohio.
Carey JC; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2018 Nov; Vol. 176 (11), pp. 2389-2394. Date of Electronic Publication: 2018 Oct 05.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Liver Neoplasms/*complications
Wolf-Hirschhorn Syndrome/*etiology
Adolescent ; Adult ; Child, Preschool ; Female ; Humans ; Infant ; Liver Neoplasms/diagnostic imaging ; Magnetic Resonance Imaging ; Phenotype ; Risk Factors ; Wolf-Hirschhorn Syndrome/diagnostic imaging ; Young Adult
Czasopismo naukowe
Tytuł :
Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling.
Autorzy :
Xing Y; Department of Fetal Medicine and Prenatal Diagnosis center, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, 2699 West Gaoke Rd, Pudong New District, Shanghai, 201204, China.
Holder JL Jr; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
Liu Y; Department of Fetal Medicine and Prenatal Diagnosis center, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, 2699 West Gaoke Rd, Pudong New District, Shanghai, 201204, China.
Yuan M; Department of Fetal Medicine and Prenatal Diagnosis center, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, 2699 West Gaoke Rd, Pudong New District, Shanghai, 201204, China.
Sun Q; Department of Fetal Medicine and Prenatal Diagnosis center, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, 2699 West Gaoke Rd, Pudong New District, Shanghai, 201204, China.
Qu X; Department of Fetal Medicine and Prenatal Diagnosis center, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, 2699 West Gaoke Rd, Pudong New District, Shanghai, 201204, China.
Deng L; Department of Fetal Medicine and Prenatal Diagnosis center, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, 2699 West Gaoke Rd, Pudong New District, Shanghai, 201204, China.
Zhou J; Department of Fetal Medicine and Prenatal Diagnosis center, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, 2699 West Gaoke Rd, Pudong New District, Shanghai, 201204, China.
Yang Y; Department of Fetal Medicine and Prenatal Diagnosis center, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, 2699 West Gaoke Rd, Pudong New District, Shanghai, 201204, China.
Guo M; Department of Fetal Medicine and Prenatal Diagnosis center, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, 2699 West Gaoke Rd, Pudong New District, Shanghai, 201204, China.
Cheung SW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Sun L; Department of Fetal Medicine and Prenatal Diagnosis center, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, 2699 West Gaoke Rd, Pudong New District, Shanghai, 201204, China. .
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Źródło :
Archives of gynecology and obstetrics [Arch Gynecol Obstet] 2018 Aug; Vol. 298 (2), pp. 289-295. Date of Electronic Publication: 2018 May 28.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Counseling/*methods
Prenatal Diagnosis/*methods
Wolf-Hirschhorn Syndrome/*diagnosis
Wolf-Hirschhorn Syndrome/*diagnostic imaging
Adult ; Female ; Humans ; Pregnancy ; Retrospective Studies ; Wolf-Hirschhorn Syndrome/pathology ; Young Adult
Czasopismo naukowe
Tytuł :
Prenatal diagnosis of Wolf-Hirschhorn syndrome: Ultrasonography and molecular karyotyping results.
Autorzy :
Zhen L; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong Province, China.
Fan SS; Prenatal Diagnosis Unit, Yue Bei People's Hospital, Shaoguan, Guangdong Province, China.
Huang LY; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong Province, China.
Pan M; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong Province, China.
Han J; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong Province, China.
Yang X; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong Province, China.
Li DZ; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong Province, China. Electronic address: .
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Źródło :
European journal of obstetrics, gynecology, and reproductive biology [Eur J Obstet Gynecol Reprod Biol] 2018 Jun; Vol. 225, pp. 19-21. Date of Electronic Publication: 2018 Mar 31.
Typ publikacji :
Journal Article
MeSH Terms :
Karyotyping*
Prenatal Diagnosis*
Ultrasonography, Prenatal*
Wolf-Hirschhorn Syndrome/*diagnosis
Adult ; Female ; Humans ; Pregnancy ; Retrospective Studies ; Wolf-Hirschhorn Syndrome/diagnostic imaging ; Wolf-Hirschhorn Syndrome/genetics
Czasopismo naukowe
Tytuł :
Dissecting the Wolf-Hirschhorn syndrome phenotype: WHSC1 is a neurodevelopmental gene contributing to growth delay, intellectual disability, and to the facial dysmorphism.
Autorzy :
Zollino M; Institute of Genomic Medicine, Catholic University, A. Gemelli Foundation, Rome, Italy. .
Doronzio PN; Institute of Genomic Medicine, Catholic University, A. Gemelli Foundation, Rome, Italy.
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Źródło :
Journal of human genetics [J Hum Genet] 2018 Aug; Vol. 63 (8), pp. 859-861. Date of Electronic Publication: 2018 Jun 08.
Typ publikacji :
Editorial
MeSH Terms :
Mutation*
Abnormalities, Multiple/*genetics
Craniofacial Abnormalities/*genetics
Growth Disorders/*genetics
Histone-Lysine N-Methyltransferase/*genetics
Intellectual Disability/*genetics
Muscular Atrophy/*genetics
Repressor Proteins/*genetics
Wolf-Hirschhorn Syndrome/*genetics
Abnormalities, Multiple/pathology ; Chromosome Deletion ; Craniofacial Abnormalities/pathology ; Growth Disorders/pathology ; Humans ; Intellectual Disability/pathology ; Muscular Atrophy/pathology ; Phenotype ; Wolf-Hirschhorn Syndrome/pathology
SCR Disease Name :
Facial Dysmorphism with Multiple Malformations
Opinia redakcyjna
Tytuł :
Congenital cavitary optic disc anomaly and Axenfeld's anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature.
Autorzy :
Ali MH; a Department of Ophthalmology and Visual Sciences , University of Illinois at Chicago, Illinois Eye and Ear Infirmary , Chicago , IL, USA.
Azar NF; a Department of Ophthalmology and Visual Sciences , University of Illinois at Chicago, Illinois Eye and Ear Infirmary , Chicago , IL, USA.
Aakalu V; a Department of Ophthalmology and Visual Sciences , University of Illinois at Chicago, Illinois Eye and Ear Infirmary , Chicago , IL, USA.
Chau FY; a Department of Ophthalmology and Visual Sciences , University of Illinois at Chicago, Illinois Eye and Ear Infirmary , Chicago , IL, USA.
Abbasian J; a Department of Ophthalmology and Visual Sciences , University of Illinois at Chicago, Illinois Eye and Ear Infirmary , Chicago , IL, USA.
Setabutr P; a Department of Ophthalmology and Visual Sciences , University of Illinois at Chicago, Illinois Eye and Ear Infirmary , Chicago , IL, USA.
Maumenee IH; a Department of Ophthalmology and Visual Sciences , University of Illinois at Chicago, Illinois Eye and Ear Infirmary , Chicago , IL, USA.
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Źródło :
Ophthalmic genetics [Ophthalmic Genet] 2018 Apr; Vol. 39 (2), pp. 271-274. Date of Electronic Publication: 2017 Dec 04.
Typ publikacji :
Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Anterior Eye Segment/*abnormalities
Eye Abnormalities/*diagnosis
Eye Diseases, Hereditary/*diagnosis
Optic Disk/*abnormalities
Wolf-Hirschhorn Syndrome/*diagnosis
Adult ; Anterior Eye Segment/surgery ; Blepharoplasty ; Chromosome Deletion ; Chromosomes, Human, Pair 4/genetics ; Chromosomes, Human, X/genetics ; Eye Abnormalities/genetics ; Eye Abnormalities/surgery ; Eye Diseases, Hereditary/genetics ; Eye Diseases, Hereditary/surgery ; Female ; Humans ; Infant, Newborn ; Male ; Translocation, Genetic/genetics ; Wolf-Hirschhorn Syndrome/genetics ; Wolf-Hirschhorn Syndrome/surgery
SCR Disease Name :
Axenfeld-Rieger syndrome; Chromosome 4 short arm deletion
Czasopismo naukowe
Tytuł :
Oligonephronia and Wolf-Hirschhorn syndrome: A further observation.
Autorzy :
Gatto A; Institute of Pediatrics, Fondazione Policlinico Universitario A. Gemelli, Catholic University, Rome, Italy.
Ferrara P; Institute of Pediatrics, Fondazione Policlinico Universitario A. Gemelli, Catholic University, Rome, Italy.
Leoni C; Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli, Catholic University, Rome, Italy.
Onesimo R; Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli, Catholic University, Rome, Italy.
Zollino M; Institute of Genomic Medicine, Fondazione Policlinico Universitario A. Gemelli, Catholic University, Rome, Italy.
Emma F; Division of Nephrology and Dialysis, Children's Hospital Bambino Gesù, IRCCS, Rome, Italy.
Zampino G; Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli, Catholic University, Rome, Italy.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2018 Feb; Vol. 176 (2), pp. 409-414. Date of Electronic Publication: 2017 Nov 28.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosome Disorders/*genetics
Glomerulosclerosis, Focal Segmental/*genetics
Kidney/*physiopathology
Wolf-Hirschhorn Syndrome/*genetics
Angiotensin-Converting Enzyme Inhibitors/administration & dosage ; Child ; Chromosome Deletion ; Chromosome Disorders/drug therapy ; Chromosome Disorders/physiopathology ; Chromosomes, Human, Pair 4/genetics ; Glomerulosclerosis, Focal Segmental/diagnostic imaging ; Glomerulosclerosis, Focal Segmental/drug therapy ; Glomerulosclerosis, Focal Segmental/physiopathology ; Humans ; Hypertension/genetics ; Hypertension/physiopathology ; Kidney/diagnostic imaging ; Kidney/drug effects ; Kidney Function Tests ; Male ; Wolf-Hirschhorn Syndrome/drug therapy ; Wolf-Hirschhorn Syndrome/physiopathology
Czasopismo naukowe
Tytuł :
Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones.
Autorzy :
Chen CP; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: .
Chen CY; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medicine, MacKay Medical College, New Taipei, Taiwan; MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan.
Chern SR; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Wu PS; Gene Biodesign Co. Ltd, Taipei, Taiwan.
Chen SW; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Lai ST; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Chuang TY; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Yang CW; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Chen LF; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Wang W; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.
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Źródło :
Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2017 Dec; Vol. 56 (6), pp. 821-826.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Amniocentesis/*methods
Chromosome Disorders/*diagnosis
Cleft Lip/*diagnosis
Cleft Palate/*diagnosis
Craniofacial Abnormalities/*diagnosis
Ectromelia/*diagnosis
Hypertelorism/*diagnosis
Microtubule-Associated Proteins/*genetics
Receptor, Fibroblast Growth Factor, Type 5/*genetics
Wolf-Hirschhorn Syndrome/*diagnosis
Adult ; Chromosome Disorders/embryology ; Chromosome Disorders/genetics ; Chromosomes, Human, Pair 4 ; Cleft Lip/embryology ; Cleft Lip/genetics ; Cleft Palate/embryology ; Cleft Palate/genetics ; Comparative Genomic Hybridization ; Craniofacial Abnormalities/embryology ; Craniofacial Abnormalities/genetics ; Cytogenetic Analysis ; Ectromelia/embryology ; Ectromelia/genetics ; Female ; Humans ; Hypertelorism/embryology ; Hypertelorism/genetics ; In Situ Hybridization, Fluorescence ; Pregnancy ; Wolf-Hirschhorn Syndrome/embryology ; Wolf-Hirschhorn Syndrome/genetics
SCR Disease Name :
Roberts Syndrome
Czasopismo naukowe
Tytuł :
A structured assessment of motor function, behavior, and communication in patients with Wolf-Hirschhorn syndrome.
Autorzy :
Nag HE; Frambu Resource Centre for Rare Disorders, Siggerud, Norway.
Bergsaker DK; Frambu Resource Centre for Rare Disorders, Siggerud, Norway.
Hunn BS; Frambu Resource Centre for Rare Disorders, Siggerud, Norway.
Schmidt S; Frambu Resource Centre for Rare Disorders, Siggerud, Norway.
Hoxmark LB; Frambu Resource Centre for Rare Disorders, Siggerud, Norway. Electronic address: .
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2017 Nov; Vol. 60 (11), pp. 610-617. Date of Electronic Publication: 2017 Aug 14.
Typ publikacji :
Journal Article
MeSH Terms :
Communication*
Motor Skills*
Wolf-Hirschhorn Syndrome/*diagnosis
Adolescent ; Child ; Female ; Humans ; Infant ; Male ; Middle Aged ; Neurologic Examination ; Neuropsychological Tests ; Phenotype ; Wolf-Hirschhorn Syndrome/genetics ; Young Adult
Czasopismo naukowe

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