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Wyszukujesz frazę ""Chromosome Disorders"" wg kryterium: Temat


Tytuł:
Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.
Autorzy:
Fetta A; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC di Neuropsichiatria dell'Età Pediatrica, Bologna, Italy.; Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Università di Bologna, Bologna, Italy.
Toni F; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neuroradiologia con Tecniche ad elevata complessità- PNTEC, Bologna, Italy.
Pettenuzzo I; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC di Neuropsichiatria dell'Età Pediatrica, Bologna, Italy.; Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Università di Bologna, Bologna, Italy.
Ricci E; Epilepsy Center, Childhood and Adolescence Neuropsychiatry Unit, ASST Santi Paolo e Carlo, San Paolo Hospital, 20142, Milan, Italy. .
Rocca A; UO di Pediatria d'Urgenza, IRCCS Policlinico Sant'Orsola, Bologna, Italy.
Gambi C; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC di Neuropsichiatria dell'Età Pediatrica, Bologna, Italy.; Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Università di Bologna, Bologna, Italy.
Soliani L; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC di Neuropsichiatria dell'Età Pediatrica, Bologna, Italy.
Di Pisa V; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC di Neuropsichiatria dell'Età Pediatrica, Bologna, Italy.
Martini S; Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Università di Bologna, Bologna, Italy.; Neonatal Intensive Care Unit, IRCCS AOUBO, Bologna, Italy.
Sperti G; Scuola di Specializzazione in Pediatria - Alma Mater Studiorum, Università di Bologna, Bologna, Italy.
Cagnazzo V; Scuola di Specializzazione in Pediatria - Alma Mater Studiorum, Università di Bologna, Bologna, Italy.
Accorsi P; Child Neuropsychiatric Division, Spedali Civili, Brescia, Italy.
Bartolini E; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, 56128, Pisa, Italy.
Battaglia D; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Catholic University UCSC, Rome, Italy.
Bernardo P; Department of Neurosciences, Pediatric Psychiatry and Neurology Unit, Santobono-Pausilipon Children's Hospital, Naples, Italy.
Canevini MP; Epilepsy Center, Childhood and Adolescence Neuropsychiatry Unit, ASST Santi Paolo e Carlo, San Paolo Hospital, 20142, Milan, Italy.
Ferrari AR; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, 56128, Pisa, Italy.
Giordano L; Child Neuropsychiatric Division, Spedali Civili, Brescia, Italy.
Locatelli C; Neonatal Intensive Care Unit, IRCCS AOUBO, Bologna, Italy.
Mancardi M; Unit of Child Neuropsychiatry, IRCCS Istituto Giannina Gaslini, Epicare Network for Rare Disease, Genoa, Italy.
Orsini A; Pediatric Neurology, Pediatric University Department, Azienda Ospedaliera Universitaria Pisana, University of Pisa, Pisa, Italy.
Pippucci T; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna Policlinico S Orsola, Bologna, Emilia- Romagna, Italy.
Pruna D; Department of Pediatric Neurology and Epileptology, Pediatric Depatment, ARNAS Brotzu, Cagliari, Italy.
Rosati A; Neuroscience Department, Children's Hospital Anna Meyer, University of Florence, Viale Gaetano Pieraccini, 24, 50139, Firenze, Italy.
Suppiej A; Department of Medical Sciences, Pediatric Section, University Hospital of Ferrara, Ferrara, Italy.
Tagliani S; Department of Medical Sciences, Pediatric Section, University Hospital of Ferrara, Ferrara, Italy.
Vaisfeld A; Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Università di Bologna, Bologna, Italy.; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna Policlinico S Orsola, Bologna, Emilia- Romagna, Italy.
Vignoli A; Child Neuropsychiatry Unit, Department of Health Sciences, ASSTGrande Ospedale Metropolitano, Niguarda, Milano, Italy.
Izumi K; Division of Genetics and Metabolism, Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., 75390, Dallas, TX, USA.
Krantz I; Divisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Cordelli DM; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC di Neuropsichiatria dell'Età Pediatrica, Bologna, Italy.; Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Università di Bologna, Bologna, Italy.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Mar 08; Vol. 19 (1), pp. 107. Date of Electronic Publication: 2024 Mar 08.
Typ publikacji:
Review; Journal Article
MeSH Terms:
Polymicrogyria*
Chromosome Disorders*/diagnostic imaging
Chromosome Disorders*/genetics
Brain Diseases*
Male ; Female ; Humans ; Child ; Infant ; Child, Preschool ; Adolescent ; Neuroimaging ; Brain/diagnostic imaging ; Chromosomes, Human, Pair 12 ; Observational Studies as Topic
SCR Disease Name:
Pallister Killian syndrome
Czasopismo naukowe
Tytuł:
A Retrospective Analysis of Robertsonian Translocations from a Single Center in China.
Autorzy:
Lu W; Medical Genetic Center, Jiangxi Key Laboratory of Birth Defect Prevention and Control, Jiangxi Maternal and Child Health Hospital, Nanchang, Jiangxi, China.
Zhou J; Medical Genetic Center, Jiangxi Key Laboratory of Birth Defect Prevention and Control, Jiangxi Maternal and Child Health Hospital, Nanchang, Jiangxi, China.
Rao H; Medical Genetic Center, Jiangxi Key Laboratory of Birth Defect Prevention and Control, Jiangxi Maternal and Child Health Hospital, Nanchang, Jiangxi, China.
Yuan H; Medical Genetic Center, Jiangxi Key Laboratory of Birth Defect Prevention and Control, Jiangxi Maternal and Child Health Hospital, Nanchang, Jiangxi, China.
Huang S; Medical Genetic Center, Jiangxi Key Laboratory of Birth Defect Prevention and Control, Jiangxi Maternal and Child Health Hospital, Nanchang, Jiangxi, China.
Liu Y; Medical Genetic Center, Jiangxi Key Laboratory of Birth Defect Prevention and Control, Jiangxi Maternal and Child Health Hospital, Nanchang, Jiangxi, China. .
Yang B; Medical Genetic Center, Jiangxi Key Laboratory of Birth Defect Prevention and Control, Jiangxi Maternal and Child Health Hospital, Nanchang, Jiangxi, China. .
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Źródło:
Reproductive sciences (Thousand Oaks, Calif.) [Reprod Sci] 2024 Mar; Vol. 31 (3), pp. 851-856. Date of Electronic Publication: 2023 Nov 06.
Typ publikacji:
Journal Article
MeSH Terms:
Chromosome Disorders*/diagnosis
Chromosome Disorders*/epidemiology
Chromosome Disorders*/genetics
Abortion, Spontaneous*/epidemiology
Abortion, Spontaneous*/genetics
Pregnancy ; Humans ; Male ; Female ; Retrospective Studies ; Translocation, Genetic ; Chromosome Aberrations
Czasopismo naukowe
Tytuł:
Genetics of kidney disorders in Phelan-McDermid syndrome: evidence from 357 registry participants.
Autorzy:
McCoy MD; School of Nursing, Healthcare Genetics Program, Clemson University, Clemson, SC, 29634, USA.
Sarasua SM; School of Nursing, Healthcare Genetics Program, Clemson University, Clemson, SC, 29634, USA. .
DeLuca JM; School of Nursing, Healthcare Genetics Program, Clemson University, Clemson, SC, 29634, USA.
Davis S; School of Nursing, Healthcare Genetics Program, Clemson University, Clemson, SC, 29634, USA.
Rogers RC; Greenwood Genetic Center, Greenwood, SC, 29646, USA.
Phelan K; Genetics Laboratory, Florida Cancer Specialists and Research Institute, Fort Myers, FL, 33916, USA.
Boccuto L; School of Nursing, Healthcare Genetics Program, Clemson University, Clemson, SC, 29634, USA.
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Źródło:
Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2024 Mar; Vol. 39 (3), pp. 749-760. Date of Electronic Publication: 2023 Sep 21.
Typ publikacji:
Journal Article
MeSH Terms:
Chromosome Disorders*/epidemiology
Chromosome Disorders*/genetics
Chromosome Disorders*/pathology
Polycystic Kidney Diseases*/epidemiology
Polycystic Kidney Diseases*/genetics
Humans ; Cross-Sectional Studies ; Nerve Tissue Proteins/genetics ; Chromosome Deletion ; Kidney/pathology ; Chromosomes, Human, Pair 22
SCR Disease Name:
Telomeric 22q13 Monosomy Syndrome
Czasopismo naukowe
Tytuł:
Antenatal description of large 4q13.2q21.23 deletion and outcomes.
Autorzy:
Giguet-Valard AG; Multidisciplinary Department for Antenatal Diagnosis/Rare Neurological and Neuromuscular Disorders, University Hospital Center of Martinique, Fort-de-France, France.
Thevenin C; Private Laboratory for Biological Tests - BIOLAB Martinique, Fort-de-France, France.
Dreux S; Pre-Natal Biochemistry Unit, Biochemistry-Hormonology Laboratory, Robert Debré Hospital, DMU Biogem AP-HP, Paris, France.
Decatrelle V; Multidisciplinary Department for Antenatal Diagnosis/Rare Neurological and Neuromuscular Disorders, University Hospital Center of Martinique, Fort-de-France, France.
Juve ML; Multidisciplinary Department for Antenatal Diagnosis/Rare Neurological and Neuromuscular Disorders, University Hospital Center of Martinique, Fort-de-France, France.
Yazza S; Multidisciplinary Department for Antenatal Diagnosis/Rare Neurological and Neuromuscular Disorders, University Hospital Center of Martinique, Fort-de-France, France.
Adenet C; Radiology Department, University Hospital Center of Martinique, Fort-de-France, France.
Lesueur M; Genomic Laboratory, University Hospital of Necker, Paris, France.
Bouvagnet P; Multidisciplinary Department for Antenatal Diagnosis/Rare Neurological and Neuromuscular Disorders, University Hospital Center of Martinique, Fort-de-France, France.
Gueneret M; Multidisciplinary Department for Antenatal Diagnosis/Rare Neurological and Neuromuscular Disorders, University Hospital Center of Martinique, Fort-de-France, France.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Feb; Vol. 12 (2), pp. e2397.
Typ publikacji:
Journal Article
MeSH Terms:
Chromosome Deletion*
Chromosome Disorders*/genetics
Chromosome Disorders*/diagnosis
Humans ; Female ; Pregnancy ; Comparative Genomic Hybridization ; Chromosome Aberrations ; Syndrome ; Fetal Growth Retardation/genetics
Czasopismo naukowe
Tytuł:
Maternal age and the risk of fetal aneuploidy: A nationwide cohort study of more than 500 000 singleton pregnancies in Denmark from 2008 to 2017.
Autorzy:
Elmerdahl Frederiksen L; Childhood Cancer Research Group, Danish Cancer Society Research Center, Copenhagen, Denmark.
Ølgaard SM; Center For Fetal Diagnostics, Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.
Roos L; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
Petersen OB; Center of Fetal Medicine, Department of Obstetrics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
Rode L; Center of Fetal Medicine, Department of Obstetrics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
Hartwig T; Department of Obstetrics and Gynecology, Copenhagen University Hospital Hvidovre, Hvidovre, Denmark.
Ekelund CK; Center of Fetal Medicine, Department of Obstetrics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
Vogel I; Center For Fetal Diagnostics, Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.; Department of Obstetrics and Gynecology, Aarhus University Hospital, Aarhus, Denmark.
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Corporate Authors:
Danish Central Cytogenetics Registry Study Group
Źródło:
Acta obstetricia et gynecologica Scandinavica [Acta Obstet Gynecol Scand] 2024 Feb; Vol. 103 (2), pp. 351-359. Date of Electronic Publication: 2023 Nov 20.
Typ publikacji:
Journal Article
MeSH Terms:
Down Syndrome*/epidemiology
Down Syndrome*/genetics
Down Syndrome*/diagnosis
Chromosome Disorders*/diagnosis
Chromosome Disorders*/epidemiology
Chromosome Disorders*/genetics
Turner Syndrome*
Female ; Pregnancy ; Humans ; Maternal Age ; Trisomy/genetics ; Prenatal Diagnosis ; Cohort Studies ; Triploidy ; Aneuploidy ; Sex Chromosome Aberrations ; Trisomy 18 Syndrome/epidemiology ; Fetus ; Mosaicism ; Denmark/epidemiology
Czasopismo naukowe
Tytuł:
Intrauterine ultrasound phenotyping, molecular characteristics, and postnatal follow-up of fetuses with the 15q11.2 BP1-BP2 microdeletion syndrome: a single-center, retrospective clinical study.
Autorzy:
Cai M; Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Lv A; Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Zhao W; Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Xu L; Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China. .
Lin N; Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China. .
Huang H; Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China. .
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Źródło:
BMC pregnancy and childbirth [BMC Pregnancy Childbirth] 2024 Jan 03; Vol. 24 (1), pp. 23. Date of Electronic Publication: 2024 Jan 03.
Typ publikacji:
Journal Article
MeSH Terms:
Chromosome Disorders*/diagnosis
Chromosome Disorders*/genetics
Intellectual Disability*/diagnosis
Intellectual Disability*/genetics
Adult ; Child ; Pregnancy ; Female ; Humans ; Retrospective Studies ; Follow-Up Studies
SCR Disease Name:
Duplication 15q11-q13 Syndrome
Czasopismo naukowe
Tytuł:
Evaluation of chromosomal abnormalities in the postnatal cohort: A single-center study on 14,242 patients.
Autorzy:
Akalin H; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.
Sahin IO; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.
Paskal SA; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.
Tan B; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.
Yalcinkaya E; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.
Demir M; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.
Yakubi M; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.
Caliskan BO; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.
Ekinci OG; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.
Ercan M; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.
Kucuk TY; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.
Gokgoz G; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.
Kiraz A; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.
Per H; Department of Pediatric Neurology, Faculty of Medicine, Children's Hospital, Erciyes University, Kayseri, Türkiye.
Ozgun MT; Department of Obstetrics and Gynecology, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.
Baydilli N; Department of Urology, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.
Ozkul Y; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.
Dundar M; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.
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Źródło:
Journal of clinical laboratory analysis [J Clin Lab Anal] 2024 Jan; Vol. 38 (1-2), pp. e24997. Date of Electronic Publication: 2023 Dec 19.
Typ publikacji:
Journal Article
MeSH Terms:
Chromosome Disorders*/epidemiology
Chromosome Disorders*/genetics
Chromosome Disorders*/diagnosis
Down Syndrome*/epidemiology
Down Syndrome*/genetics
Abortion, Habitual*/genetics
Male ; Pregnancy ; Female ; Humans ; Retrospective Studies ; Chromosome Aberrations
Czasopismo naukowe
Tytuł:
Artificial intelligence for prenatal chromosome analysis.
Autorzy:
Boddupally K; JNTUH University, India; CVR College of Engineering, ECE, Hyderabad, India. Electronic address: .
Rani Thuraka E; Esther Rani Thuraka, CVR College of Engineering, ECE, Hyderabad, India. Electronic address: .
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Źródło:
Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2024 Jan 01; Vol. 552, pp. 117669. Date of Electronic Publication: 2023 Nov 23.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Chromosome Disorders*/diagnosis
Chromosome Disorders*/genetics
Down Syndrome*/diagnosis
Pregnancy ; Female ; Humans ; Artificial Intelligence ; Prenatal Diagnosis/methods ; Chromosome Aberrations ; Trisomy 18 Syndrome/diagnosis ; Trisomy 13 Syndrome/diagnosis ; Trisomy 13 Syndrome/genetics ; Chromosomes ; Trisomy
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
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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:
Association of genetic variation on X chromosome with systemic lupus erythematosus in both Thai and Chinese populations.
Autorzy:
Tangtanatakul P; Department of Transfusion Medicine and Clinical Microbiology, Faculty of Allied Health Sciences, Chulalongkorn University, Bangkok, Thailand.; Centre of Excellent in Immunology and Immune-Mediated Diseases, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Lei Y; Department of Paediatrics and Adolescent Medicine, Hong Kong University, Hong Kong, People's Republic of China.
Jaiwan K; Master of Sciences Program in Molecular Science of Medical Microbiology and Immunology, Faculty of Allied Health Sciences, Chulalongkorn University, Bangkok, Thailand.
Yang W; Department of Paediatrics and Adolescent Medicine, Hong Kong University, Hong Kong, People's Republic of China.
Boonbangyang M; National Biobank of Thailand (NBT), National Science and Technology Development Agency, Khlong Luang, Pathum Thani, Thailand.
Kunhapan P; Department of Medical Sciences, Ministry of Public Health, Nonthaburi, Thailand.
Sodsai P; Centre of Excellent in Immunology and Immune-Mediated Diseases, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Division of Immunology, Department of Microbiology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Mahasirimongkol S; Department of Medical Sciences, Ministry of Public Health, Nonthaburi, Thailand.
Pisitkun P; Division of Allergy, Immunology, and Rheumatology, Department of Medicine, Mahidol University Faculty of Medicine Ramathibodi Hospital, Bangkok, Thailand.
Yang Y; Department of Nephrology, Fourth Affiliated Hospital, International Institutes of Medicine, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
Eu-Ahsunthornwattana J; Department of Community Medicine, Mahidol University Faculty of Medicine Ramathibodi Hospital, Bangkok, Thailand.
Aekplakorn W; Department of Community Medicine, Mahidol University Faculty of Medicine Ramathibodi Hospital, Bangkok, Thailand.
Jinawath N; Program in Translational Medicine, Mahidol University Faculty of Medicine Ramathibodi Hospital, Bangkok, Thailand.; Integrative Computational BioScience (ICBS) Center, Mahidol University, Nakornpathom, Thailand.
Neelapaichit N; Ramathibodi School of Nursing, Mahidol University Faculty of Medicine Ramathibodi Hospital, Bangkok, Thailand.
Hirankarn N; Centre of Excellent in Immunology and Immune-Mediated Diseases, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Division of Immunology, Department of Microbiology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Wang YF; Warshel Institute for Computational Biology, The Chinese University of Hong Kong, Shenzhen, Guangdong, People's Republic of China .; School of Medicine, The Chinese University of Hong Kong, Shenzhen, Guangdong, People's Republic of China.
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Źródło:
Lupus science & medicine [Lupus Sci Med] 2024 Mar 08; Vol. 11 (1). Date of Electronic Publication: 2024 Mar 08.
Typ publikacji:
Meta-Analysis; Journal Article
MeSH Terms:
Lupus Erythematosus, Systemic*/epidemiology
Lupus Erythematosus, Systemic*/genetics
Trisomy*
Sex Chromosome Disorders of Sex Development*
Humans ; Male ; Female ; Genetic Predisposition to Disease ; Thailand/epidemiology ; Sex Chromosome Aberrations ; Chromosomes, Human, X/genetics ; China ; Membrane Proteins
SCR Disease Name:
Triple X syndrome
Czasopismo naukowe
Tytuł:
Fatal cardiac dysfunction in a child with Williams syndrome.
Autorzy:
Kawai C; Department of Forensic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Kondo H; Department of Pediatrics, Japanese Red Cross Kyoto Daiichi Hospital, Kyoto, Japan.
Miyao M; Department of Forensic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan. Electronic address: .
Sunada M; Department of Pediatrics, Japanese Red Cross Kyoto Daiichi Hospital, Kyoto, Japan.
Ozawa S; Department of Pediatrics, Japanese Red Cross Kyoto Daiichi Hospital, Kyoto, Japan.
Kotani H; Forensic Medicine and Sciences, Mie University Graduate School of Medicine, Mie, Japan.
Minami H; Department of Forensic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Nagai H; Department of Forensic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Abiru H; Department of Forensic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Yamamoto A; Center for Medical Education, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Tamaki K; Department of Forensic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Nishitani Y; Department of Forensic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan.
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Źródło:
Legal medicine (Tokyo, Japan) [Leg Med (Tokyo)] 2024 Mar; Vol. 67, pp. 102387. Date of Electronic Publication: 2023 Dec 26.
Typ publikacji:
Case Reports
MeSH Terms:
Williams Syndrome*/complications
Williams Syndrome*/genetics
Coronary Stenosis*
Autistic Disorder*
Intellectual Disability*
Chromosome Disorders*
Humans ; Child ; Infant ; Female ; Chromosome Deletion ; Death, Sudden, Cardiac/etiology ; Chromosomes, Human, Pair 16
SCR Disease Name:
16p11.2 Deletion Syndrome
Raport
Tytuł:
EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: State of the art 2023.
Autorzy:
Krausz C; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', University of Florence, University Hospital Careggi, Florence, Italy.
Navarro-Costa P; EvoReproMed Lab, Environmental Health Institute (ISAMB), Associate Laboratory TERRA, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.; Gulbenkian Science Institute, Oeiras, Portugal.
Wilke M; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
Tüttelmann F; Institute of Reproductive Genetics, University of Münster, Münster, Germany.
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Źródło:
Andrology [Andrology] 2024 Mar; Vol. 12 (3), pp. 487-504. Date of Electronic Publication: 2023 Sep 06.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Andrology*
Infertility, Male*/diagnosis
Infertility, Male*/genetics
Infertility, Male*/pathology
Azoospermia*/diagnosis
Azoospermia*/genetics
Azoospermia*/pathology
Oligospermia*/diagnosis
Oligospermia*/genetics
Sertoli Cell-Only Syndrome*/genetics
Sex Chromosome Aberrations*
Sex Chromosome Disorders of Sex Development*
Humans ; Male ; Semen ; Chromosome Deletion ; Chromosomes, Human, Y/genetics ; Multiplex Polymerase Chain Reaction
SCR Disease Name:
Male sterility due to Y-chromosome deletions
Czasopismo naukowe
Tytuł:
Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA.
Autorzy:
Rohrlach AB; Department of Archaeogenetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany. adam_ben_.; School of Computer and Mathematical Sciences, University of Adelaide, Adelaide, SA, Australia. adam_ben_.
Rivollat M; Department of Archaeogenetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany.; ArcheOs lab, Department of Archaeology, Ghent University, Sint-Pietersnieuwstraat 35, 9000, Gent, Belgium.; Archaeo-DNA lab, Department of Archaeology, Durham University, Lower Mount Joy, South Road, Durham, DH1 3LE, UK.; De la Préhistoire à l'Actuel, Culture, Environnement, Anthropologie - UMR 5199, Bordeaux University, Bât. B8, Allée Geoffroy Saint Hilaire, CS50023, 33615, Pessac cedex, France.
de-Miguel-Ibáñez P; Department of Prehistory, Archaeology, Ancient History and Greek and Latin Philology, INAPH, University of Alicante, San Vicente del Raspeig, Spain.; Sociedad de Ciencias Aranzadi, Donosti, Spain.; Hospital Verge dels Lliris, Alcoi, Alicante, Spain.
Moilanen U; Department of Biology, University of Turku, Turku, Finland.
Liira AM; Department of Archaeology, University of Turku, Turku, Finland.
Teixeira JC; Evolution of Cultural Diversity Initiative, Australian National University, Canberra, ACT, Australia.; Australian Centre for Ancient DNA, School of Biological Sciences, University of Adelaide, Adelaide, SA, Australia.; Centre of Excellence for Australian Biodiversity and Heritage, University of Adelaide, Adelaide, SA, Australia.; CEIS.20 Centro de Estudos Interdisciplinares, Universidade de Coimbra, Coimbra, Portugal.
Roca-Rada X; Australian Centre for Ancient DNA, School of Biological Sciences, University of Adelaide, Adelaide, SA, Australia.
Armendáriz-Martija J; Departamento de Ciencias Humanas y de la Educación, Universidad Pública de Navarra, Pamplona, Spain.
Boyadzhiev K; National Archaeological Institute with Museum at the Bulgarian Academy of Sciences, Saborna str. 2, Sofia, Bulgaria.
Boyadzhiev Y; National Archaeological Institute with Museum at the Bulgarian Academy of Sciences, Saborna str. 2, Sofia, Bulgaria.
Llamas B; Australian Centre for Ancient DNA, School of Biological Sciences, University of Adelaide, Adelaide, SA, Australia.; Centre of Excellence for Australian Biodiversity and Heritage, University of Adelaide, Adelaide, SA, Australia.; National Centre for Indigenous Genomics, Australian National University, Canberra, ACT, Australia.; Telethon Kids Institute, Indigenous Genomics Research Group, Adelaide, SA, Australia.
Tiliakou A; Department of Archaeogenetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany.
Mötsch A; Department of Archaeogenetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany.; Max Planck-Harvard Research Center for the Archaeoscience of the Ancient Mediterranean (MHAAM), Max Planck Institute for Evolutionary Anthropology, Deutscher Platz 6, Leipzig, Germany.
Tuke J; School of Computer and Mathematical Sciences, University of Adelaide, Adelaide, SA, Australia.
Prevedorou EA; Hellenic Center for Bioarchaeology, Athens, Greece.
Polychronakou-Sgouritsa N; Department of History and Archaeology, National and Kapodistrian University of Athens, Athens, Greece.
Buikstra J; Department of Anthropology, Arizona State University, Tempe, AZ, USA.
Onkamo P; Department of Biology, University of Turku, Turku, Finland.; Department of Biosciences, University of Helsinki, Helsinki, Finland.
Stockhammer PW; Department of Archaeogenetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany.; Max Planck-Harvard Research Center for the Archaeoscience of the Ancient Mediterranean (MHAAM), Max Planck Institute for Evolutionary Anthropology, Deutscher Platz 6, Leipzig, Germany.; Institute for Pre- and Protohistoric Archaeology and Archaeology of the Roman Provinces, Ludwig Maximilian University, Geschwister-Scholl-Platz 1, München, Germany.
Heyne HO; Hasso-Plattner-Institute, University of Potsdam, Potsdam, Germany.; Hasso Plattner Institute, Mount Sinai School of Medicine, New York, USA.; Finnish Institute for Molecular Medicine (FIMM), University of Helsinki, Helsinki, Finland.
Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany.
Risch R; Departament de Prehistòria, Universitat Autònoma de Barcelona, Bellaterra, Spain.
Schiffels S; Department of Archaeogenetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany.
Krause J; Department of Archaeogenetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany.
Haak W; Department of Archaeogenetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany.
Prüfer K; Department of Archaeogenetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany. .
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Źródło:
Nature communications [Nat Commun] 2024 Feb 20; Vol. 15 (1), pp. 1294. Date of Electronic Publication: 2024 Feb 20.
Typ publikacji:
Journal Article
MeSH Terms:
Down Syndrome*/genetics
Chromosome Disorders*/genetics
Pregnancy ; Female ; Humans ; Trisomy/genetics ; Trisomy 18 Syndrome/genetics ; DNA, Ancient ; Trisomy 13 Syndrome
Czasopismo naukowe
Tytuł:
The Pivotal Role of Oxytocin's Mechanism of Thermoregulation in Prader-Willi Syndrome, Schaaf-Yang Syndrome, and Autism Spectrum Disorder.
Autorzy:
Camerino C; Department of Precision and Regenerative Medicine, School of Medicine, University of Bari Aldo Moro, P.za G. Cesare 11, 70100 Bari, Italy.; Department of Physiology and Pharmacology 'V. Erspamer', Sapienza University of Rome, P.le Aldo Moro 5, 00185 Rome, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Feb 08; Vol. 25 (4). Date of Electronic Publication: 2024 Feb 08.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Autism Spectrum Disorder*/genetics
Autism Spectrum Disorder*/metabolism
Body Temperature Regulation*
Chromosome Disorders*
Developmental Disabilities*/genetics
Developmental Disabilities*/metabolism
Facies*
Hypopituitarism*
Imprinting Disorders*
Oxytocin*
Prader-Willi Syndrome*/genetics
Prader-Willi Syndrome*/metabolism
Humans ; Infant ; Muscle Hypotonia
Czasopismo naukowe
Tytuł:
Constitutional chromosomal anomalies in children, fetal alcohol syndrome, and maternal toxicant exposures: A longitudinal cohort study.
Autorzy:
Geier DA; Institute of Chronic Illnesses, Inc, Silver Spring, USA.
Geier MR; Institute of Chronic Illnesses, Inc, Silver Spring, USA. Electronic address: .
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Źródło:
Mutation research. Genetic toxicology and environmental mutagenesis [Mutat Res Genet Toxicol Environ Mutagen] 2024 Feb-Mar; Vol. 894, pp. 503737. Date of Electronic Publication: 2024 Feb 09.
Typ publikacji:
Journal Article
MeSH Terms:
Fetal Alcohol Spectrum Disorders*/epidemiology
Fetal Alcohol Spectrum Disorders*/genetics
Chromosome Disorders*
Child ; United States ; Female ; Pregnancy ; Humans ; Longitudinal Studies ; Cohort Studies ; Chromosome Aberrations
Czasopismo naukowe
Tytuł:
Association of Y chromosome AZF region microdeletions with recurrent miscarriage in Iranian couples: A case-control study.
Autorzy:
Pazoki N; Department of Genetics, Faculty of Biological Sciences, North Tehran Branch, Islamic Azad University, Tehran, Iran.
Salehi M; Department of Biology, Faculty of Biological Sciences, North Tehran Branch, Islamic Azad University, Tehran, Iran.
Angaji SA; Department of Cell and Molecular Biology, School of Biological Sciences, Kharazmi University, Tehran, Iran.
Abdollahpour-Alitappeh M; Cellular and Molecular Biology Research Center, Larestan University of Medical Sciences, Larestan, Iran.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Feb; Vol. 12 (2), pp. e2392.
Typ publikacji:
Journal Article
MeSH Terms:
Semen*
Abortion, Habitual*/genetics
Sex Chromosome Aberrations*
Sex Chromosome Disorders of Sex Development*
Chromosome Deletion*
Infertility, Male*
Female ; Pregnancy ; Male ; Humans ; Iran ; Case-Control Studies ; Sperm Motility ; Y Chromosome ; Chromosomes, Human, Y
SCR Disease Name:
Male sterility due to Y-chromosome deletions
Czasopismo naukowe
Tytuł:
Relationships among maternal monosomy X mosaicism, maternal trisomy, and discordant sex chromosome aneuploidies.
Autorzy:
Tang X; Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu 222000, People's Republic of China.
Du Y; Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu 222000, People's Republic of China.
Chen M; Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu 222000, People's Republic of China.
Zhang Y; Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu 222000, People's Republic of China.
Wang Z; Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu 222000, People's Republic of China.
Zhang F; Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu 222000, People's Republic of China.
Tan J; Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu 222000, People's Republic of China.
Yin T; Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu 222000, People's Republic of China.
Wang L; Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu 222000, People's Republic of China. Electronic address: .
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Źródło:
Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2024 Feb 01; Vol. 554, pp. 117770. Date of Electronic Publication: 2024 Jan 08.
Typ publikacji:
Journal Article
MeSH Terms:
Trisomy*/diagnosis
Trisomy*/genetics
Turner Syndrome*/diagnosis
Turner Syndrome*/genetics
Sex Chromosome Disorders of Sex Development*
Female ; Humans ; Pregnancy ; Male ; Mosaicism ; DNA Copy Number Variations ; Retrospective Studies ; Sex Chromosome Aberrations ; Prenatal Diagnosis/methods ; Chromosomes, Human, X/genetics ; Aneuploidy
SCR Disease Name:
Triple X syndrome
Czasopismo naukowe
Tytuł:
Clinical evaluation of noninvasive prenatal testing for sex chromosome aneuploidies in 9,176 Korean pregnant women: a single-center retrospective study.
Autorzy:
Kim H; Center for Genome Diagnostics, CHA Biotech Inc, Seoul, 06125, Republic of Korea.
Park JE; Center for Genome Diagnostics, CHA Biotech Inc, Seoul, 06125, Republic of Korea.
Kang KM; Center for Genome Diagnostics, CHA Biotech Inc, Seoul, 06125, Republic of Korea.
Jang HY; Center for Genome Diagnostics, CHA Biotech Inc, Seoul, 06125, Republic of Korea.
Go M; Center for Genome Diagnostics, CHA Biotech Inc, Seoul, 06125, Republic of Korea.; Department of Biomedical Science, College of Life Science, CHA University, Seongnam, 13488, Republic of Korea.
Yang SH; Center for Genome Diagnostics, CHA Biotech Inc, Seoul, 06125, Republic of Korea.
Kim JC; Center for Genome Diagnostics, CHA Biotech Inc, Seoul, 06125, Republic of Korea.
Lim SY; Department of Biomedical Science, College of Life Science, CHA University, Seongnam, 13488, Republic of Korea.
Cha DH; Center for Genome Diagnostics, CHA Biotech Inc, Seoul, 06125, Republic of Korea.; Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University, Seoul, 06135, Republic of Korea.
Choi J; College of Liberal Art, CHA University, Pocheon, Gyeonggi, Republic of Korea. .
Shim SH; Center for Genome Diagnostics, CHA Biotech Inc, Seoul, 06125, Republic of Korea. .; Department of Biomedical Science, College of Life Science, CHA University, Seongnam, 13488, Republic of Korea. .
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Źródło:
BMC pregnancy and childbirth [BMC Pregnancy Childbirth] 2024 Jan 31; Vol. 24 (1), pp. 93. Date of Electronic Publication: 2024 Jan 31.
Typ publikacji:
Journal Article
MeSH Terms:
Trisomy*
Noninvasive Prenatal Testing*
XYY Karyotype*
Sex Chromosome Disorders*
Female ; Pregnancy ; Humans ; Retrospective Studies ; Pregnant Women ; Aneuploidy ; Sex Chromosome Aberrations ; Prenatal Diagnosis/methods ; Sex Chromosomes/genetics ; Republic of Korea
SCR Disease Name:
47, XYY syndrome
Czasopismo naukowe
Tytuł:
Mosaic variegated aneuploidy syndrome with tetraploid, and predisposition to male infertility triggered by mutant CEP192.
Autorzy:
Guo J; Department of Medical Genetics, Hunan Children's Hospital, Xiangya Medical School & Reproductive Medicine Center, Xiangya Hospital, Central South University, Changsha, China.
He WB; Hunan Guangxiu Hospital, Hunan Normal University School of Medicine, Changsha, China; Institute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, School of Basic Medical Science, Central South University, Changsha, China.
Dai L; Department of Obstetrics, Xiangya Hospital of Central South University, Changsha, China.
Tian F; Department of Medical Genetics, Hunan Children's Hospital, Xiangya Medical School & Reproductive Medicine Center, Xiangya Hospital, Central South University, Changsha, China.
Luo Z; Department of Medical Genetics, Hunan Children's Hospital, Xiangya Medical School & Reproductive Medicine Center, Xiangya Hospital, Central South University, Changsha, China.
Shen F; Department of Medical Genetics, Hunan Children's Hospital, Xiangya Medical School & Reproductive Medicine Center, Xiangya Hospital, Central South University, Changsha, China.
Tu M; Department of Medical Genetics, Hunan Children's Hospital, Xiangya Medical School & Reproductive Medicine Center, Xiangya Hospital, Central South University, Changsha, China.
Zheng Y; Department of Medical Genetics, Hunan Children's Hospital, Xiangya Medical School & Reproductive Medicine Center, Xiangya Hospital, Central South University, Changsha, China.
Zhao L; Department of Medical Genetics, Hunan Children's Hospital, Xiangya Medical School & Reproductive Medicine Center, Xiangya Hospital, Central South University, Changsha, China.
Tan C; Hunan Guangxiu Hospital, Hunan Normal University School of Medicine, Changsha, China; Institute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, School of Basic Medical Science, Central South University, Changsha, China.
Guo Y; Hunan Guangxiu Hospital, Hunan Normal University School of Medicine, Changsha, China; Institute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, School of Basic Medical Science, Central South University, Changsha, China.
Meng LL; Hunan Guangxiu Hospital, Hunan Normal University School of Medicine, Changsha, China; Institute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, School of Basic Medical Science, Central South University, Changsha, China.
Liu W; Department of Medical Genetics, Hunan Children's Hospital, Xiangya Medical School & Reproductive Medicine Center, Xiangya Hospital, Central South University, Changsha, China.
Deng M; Department of Medical Genetics, Hunan Children's Hospital, Xiangya Medical School & Reproductive Medicine Center, Xiangya Hospital, Central South University, Changsha, China.
Wu X; Department of Medical Genetics, Hunan Children's Hospital, Xiangya Medical School & Reproductive Medicine Center, Xiangya Hospital, Central South University, Changsha, China.
Peng Y; Department of Medical Genetics, Hunan Children's Hospital, Xiangya Medical School & Reproductive Medicine Center, Xiangya Hospital, Central South University, Changsha, China.
Zhang S; Department of Medical Genetics, Hunan Children's Hospital, Xiangya Medical School & Reproductive Medicine Center, Xiangya Hospital, Central South University, Changsha, China.
Lu GX; Hunan Guangxiu Hospital, Hunan Normal University School of Medicine, Changsha, China; Institute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, School of Basic Medical Science, Central South University, Changsha, China.
Lin G; Hunan Guangxiu Hospital, Hunan Normal University School of Medicine, Changsha, China; Institute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, School of Basic Medical Science, Central South University, Changsha, China.
Wang H; Department of Medical Genetics, Hunan Children's Hospital, Xiangya Medical School & Reproductive Medicine Center, Xiangya Hospital, Central South University, Changsha, China.
Tan YQ; Hunan Guangxiu Hospital, Hunan Normal University School of Medicine, Changsha, China; Institute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, School of Basic Medical Science, Central South University, Changsha, China. Electronic address: .
Yang Y; Department of Medical Genetics, Hunan Children's Hospital, Xiangya Medical School & Reproductive Medicine Center, Xiangya Hospital, Central South University, Changsha, China. Electronic address: .
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Źródło:
HGG advances [HGG Adv] 2024 Jan 11; Vol. 5 (1), pp. 100256. Date of Electronic Publication: 2023 Nov 19.
Typ publikacji:
Journal Article
MeSH Terms:
Chromosome Disorders*
Infertility, Male*/genetics
Humans ; Male ; Mice ; Animals ; Tetraploidy ; Aneuploidy ; Disease Susceptibility ; Chromosomal Proteins, Non-Histone/genetics ; Mosaicism
SCR Disease Name:
Mosaic variegated aneuploidy syndrome
Czasopismo naukowe
Tytuł:
Living with and managing seizures among parents of children diagnosed with Phelan-McDermid syndrome: a qualitative study using in-depth interviews.
Autorzy:
García-Bravo C; Department of Physical Therapy, Occupational Therapy, Physical Medicine and Rehabilitation, Research Group in Evaluation and Assessment of Capacity, Functionality and Disability (TO+IDI) and Research Group of Humanities and Qualitative Research in Health Science (Hum&QRinHS), 28922, Alcorcón, Spain.
Martínez-Piédrola RM; Department of Physical Therapy, Occupational Therapy, Physical Medicine and Rehabilitation, Research Group in Evaluation and Assessment of Capacity, Functionality and Disability (TO+IDI), Universidad Rey Juan Carlos, Avenida de Atenas S/N, 28922, Alcorcón, Spain. .
García-Bravo S; Department of Physical Therapy, Occupational Therapy, Physical Medicine and Rehabilitation, Universidad Rey Juan Carlos, 28922 Alcorcón, Spain, Physiocare Madrid, Physiotherapy Clinic, 28026, Madrid, Spain.
Rodríguez-Pérez MP; Department of Physical Therapy, Occupational Therapy, Physical Medicine and Rehabilitation, Research Group in Evaluation and Assessment of Capacity, Functionality and Disability (TO+IDI), Universidad Rey Juan Carlos, Avenida de Atenas S/N, 28922, Alcorcón, Spain.
Martín-Gómez AS; Department of Physical Therapy, Occupational Therapy, Physical Medicine and Rehabilitation, Research Group of Humanities and Qualitative Research in Health Science, Universidad Rey Juan Carlos (Hum&QRinHS), 28922, Alcorcón, Spain.
Fernández-Gómez G; Department of Physical Therapy, Occupational Therapy, Physical Medicine and Rehabilitation, Research Group in Evaluation and Assessment of Capacity, Functionality and Disability (TO+IDI), Universidad Rey Juan Carlos, Avenida de Atenas S/N, 28922, Alcorcón, Spain.
Palacios-Ceña D; Department of Physical Therapy, Occupational Therapy, Physical Medicine and Rehabilitation, Research Group of Humanities and Qualitative Research in Health Science, Universidad Rey Juan Carlos (Hum&QRinHS), 28922, Alcorcón, Spain.
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Źródło:
European journal of pediatrics [Eur J Pediatr] 2024 Jan; Vol. 183 (1), pp. 253-262. Date of Electronic Publication: 2023 Oct 23.
Typ publikacji:
Journal Article
MeSH Terms:
Chromosome Disorders*/genetics
Epilepsy*/diagnosis
Child ; Humans ; Adult ; Chromosome Deletion ; Parents ; Seizures/diagnosis ; Seizures/etiology ; Seizures/therapy ; Qualitative Research ; Chromosomes, Human, Pair 22
SCR Disease Name:
Telomeric 22q13 Monosomy Syndrome
Czasopismo naukowe

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