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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:
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:
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:
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:
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:
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:
Indications, types, and diagnostic implications of prenatal genetic testing in Sub-Saharan Africa: A descriptive study.
Autorzy:
Sium AF; Department of obstetrics and Gynecology, St Paul's Hospital Millennium Medical College, Addis Ababa, Ethiopia.
Shimels T; St. Paul's Hospital Millennium Medical College, Addis Ababa, Ethiopia.
Abdosh AA; Department of obstetrics and Gynecology, St Paul's Hospital Millennium Medical College, Addis Ababa, Ethiopia.
Diress T; Department of obstetrics and Gynecology, St Paul's Hospital Millennium Medical College, Addis Ababa, Ethiopia.
Tsegaye T; MRC-ET Advanced Laboratory, Addis Ababa, Ethiopia.
Yifrashewa T; MRC-ET Advanced Laboratory, Addis Ababa, Ethiopia.
Terefework Z; MRC-ET Advanced Laboratory, Addis Ababa, Ethiopia.
Gudu W; Department of obstetrics and Gynecology, St Paul's Hospital Millennium Medical College, Addis Ababa, Ethiopia.
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Źródło:
PloS one [PLoS One] 2023 Nov 16; Vol. 18 (11), pp. e0294409. Date of Electronic Publication: 2023 Nov 16 (Print Publication: 2023).
Typ publikacji:
Journal Article
MeSH Terms:
Ultrasonography, Prenatal*
Chromosome Disorders*/diagnosis
Chromosome Disorders*/epidemiology
Chromosome Disorders*/genetics
Pregnancy ; Humans ; Female ; Pregnancy Trimester, First ; Ethiopia ; Genetic Testing ; Chromosome Aberrations ; Trisomy 18 Syndrome/diagnosis ; Prenatal Diagnosis/methods
Czasopismo naukowe
Tytuł:
Economic cost of patients with trisomy 13, 18, and 21 in a tertiary hospital in Thailand.
Autorzy:
Wongkrajang P; Social, Economic and Administrative Pharmacy (SEAP) Graduate Program, Faculty of Pharmacy, Mahidol University, Bangkok, Thailand.; Department of Clinical Pathology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Jittikoon J; Department of Biochemistry, Faculty of Pharmacy, Mahidol University, Bangkok, Thailand.
Udomsinprasert W; Department of Biochemistry, Faculty of Pharmacy, Mahidol University, Bangkok, Thailand.
Talungchit P; Department of Obstetrics and Gynecology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Mahidol University Health Technology Assessment (MUHTA) Graduate Program, Mahidol University, Bangkok, Thailand.
Chaikledkaew U; Mahidol University Health Technology Assessment (MUHTA) Graduate Program, Mahidol University, Bangkok, Thailand.; Social and Administrative Pharmacy Division, Department of Pharmacy, Faculty of Pharmacy, Mahidol University, Bangkok, Thailand.
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Źródło:
PloS one [PLoS One] 2023 Nov 16; Vol. 18 (11), pp. e0291918. Date of Electronic Publication: 2023 Nov 16 (Print Publication: 2023).
Typ publikacji:
Journal Article
MeSH Terms:
Chromosome Disorders*
Heart Defects, Congenital*/surgery
Adult ; Humans ; Child ; Trisomy 13 Syndrome ; Tertiary Care Centers ; Thailand ; Trisomy 18 Syndrome ; Trisomy ; Retrospective Studies
Czasopismo naukowe
Tytuł:
Deletion in 1p36.33-p36.32 is associated with pancytopenia: a case report.
Autorzy:
Yang H; Fuzong Clinical Medical College of Fujian Medical University, Fuzhou, China.; Department of Pediatrics, The 900th Hospital of Joint Logistic Support Force, PLA, Fuzhou, China.
Huang J; Fuzong Clinical Medical College of Fujian Medical University, Fuzhou, China.; Department of Pediatrics, The 900th Hospital of Joint Logistic Support Force, PLA, Fuzhou, China.
Zheng H; Department of Pediatrics, Fujian Union Hospital, Fuzhou, China.
Zhang Y; Fuzong Clinical Medical College of Fujian Medical University, Fuzhou, China.; Department of Pediatrics, The 900th Hospital of Joint Logistic Support Force, PLA, Fuzhou, China.
Zhang Y; Department of Pediatrics, The 900th Hospital of Joint Logistic Support Force, PLA, Fuzhou, China.; Department of Pediatrics, Affiliated Dongfang Hospital, Xiamen University, Fuzhou, China.
Liu W; Department of Pediatrics, The 900th Hospital of Joint Logistic Support Force, PLA, Fuzhou, China.
Wu J; Department of Pediatrics, The 900th Hospital of Joint Logistic Support Force, PLA, Fuzhou, China.
Chen X; Department of Pediatrics, The 900th Hospital of Joint Logistic Support Force, PLA, Fuzhou, China.
Lin J; Department of Pediatrics, The 900th Hospital of Joint Logistic Support Force, PLA, Fuzhou, China.
Ni Y; Department of Pediatrics, The 900th Hospital of Joint Logistic Support Force, PLA, Fuzhou, China.
Nie X; Fuzong Clinical Medical College of Fujian Medical University, Fuzhou, China. .; Department of Pediatrics, The 900th Hospital of Joint Logistic Support Force, PLA, Fuzhou, China. .; Department of Pediatrics, Affiliated Dongfang Hospital, Xiamen University, Fuzhou, China. .
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Źródło:
BMC medical genomics [BMC Med Genomics] 2023 Nov 09; Vol. 16 (1), pp. 282. Date of Electronic Publication: 2023 Nov 09.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Intellectual Disability*/genetics
Pancytopenia*/genetics
Chromosome Disorders*/genetics
Humans ; DNA Copy Number Variations ; Chromosome Deletion ; Syndrome ; Phenotype ; Chromosomes, Human, Pair 1
SCR Disease Name:
Chromosome 1p36 Deletion Syndrome
Czasopismo naukowe
Tytuł:
Sequential application of copy number variation sequencing and quantitative fluorescence polymerase chain reaction in genetic analysis of miscarriage and stillbirth.
Autorzy:
Chen Q; Department of Reproductive and Genetic Diseases, Deyang People's Hospital, Deyang, Sichuan, China.; Deyang Key Laboratory of Birth Defects Prevention and Control, Deyang People's Hospital, Deyang, Sichuan, China.
Zhang H; Department of Reproductive and Genetic Diseases, Deyang People's Hospital, Deyang, Sichuan, China.; Deyang Key Laboratory of Birth Defects Prevention and Control, Deyang People's Hospital, Deyang, Sichuan, China.
Li X; Department of Reproductive and Genetic Diseases, Deyang People's Hospital, Deyang, Sichuan, China.; Deyang Key Laboratory of Birth Defects Prevention and Control, Deyang People's Hospital, Deyang, Sichuan, China.
Li J; Department of Obstetrics and Gynecology, Deyang People's Hospital, Deyang, Sichuan, China.
Chen H; Department of Reproductive and Genetic Diseases, Deyang People's Hospital, Deyang, Sichuan, China.; Deyang Key Laboratory of Birth Defects Prevention and Control, Deyang People's Hospital, Deyang, Sichuan, China.
Liu L; Department of Reproductive and Genetic Diseases, Deyang People's Hospital, Deyang, Sichuan, China.; Deyang Key Laboratory of Birth Defects Prevention and Control, Deyang People's Hospital, Deyang, Sichuan, China.
Zhou S; Department of Reproductive and Genetic Diseases, Deyang People's Hospital, Deyang, Sichuan, China.; Deyang Key Laboratory of Birth Defects Prevention and Control, Deyang People's Hospital, Deyang, Sichuan, China.
Xu Z; Department of Reproductive and Genetic Diseases, Deyang People's Hospital, Deyang, Sichuan, China.; Deyang Key Laboratory of Birth Defects Prevention and Control, Deyang People's Hospital, Deyang, Sichuan, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Aug; Vol. 11 (8), pp. e2187. Date of Electronic Publication: 2023 Apr 18.
Typ publikacji:
Journal Article
MeSH Terms:
Abortion, Spontaneous*/genetics
Chromosome Disorders*/genetics
Female ; Pregnancy ; Male ; Humans ; Infant ; DNA Copy Number Variations ; Stillbirth/genetics ; Triploidy ; Chromosome Aberrations ; Polymerase Chain Reaction/methods
Czasopismo naukowe
Tytuł:
Clinical outcomes of fetuses with chromosome 16 short arm copy number variants.
Autorzy:
Kang J; Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, Taiwan.
Lee CN; Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, Taiwan.
Su YN; Dianthus Maternal Fetal Medicine Clinic, Sofiva Genomics Co., Ltd., Taipei, Taiwan.
Tai YY; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
Chen CL; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
Chen HY; Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, Taiwan.
Lin SY; Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, Taiwan.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Jul; Vol. 11 (7), pp. e2174. Date of Electronic Publication: 2023 Apr 04.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Prenatal Diagnosis*/methods
Chromosome Disorders*/genetics
Pregnancy ; Child, Preschool ; Humans ; Female ; DNA Copy Number Variations ; Chromosomes, Human, Pair 16/genetics ; Fetus
Czasopismo naukowe
Tytuł:
Terminal microdeletion of chromosome 18 in a Malaysian boy characterized with few features of typical 18q- deletion syndrome: a case report.
Autorzy:
Ismail A; Haematology Unit, Cancer Research Centre, Institute for Medical Research, National Institutes of Health, Ministry of Health Malaysia, 40170, Shah Alam, Selangor, Malaysia.
Ahid F; Centre for Medical Laboratory Technology Studies, Faculty of Health Sciences, Universiti Teknologi MARA, 42300, Puncak Alam, Selangor, Malaysia. .; Stem Cell and Regenerative Medicine Research Initiative Group, Universiti Teknologi MARA, 40450, Shah Alam, Selangor, Malaysia. .
Thong MK; Department of Pediatrics, Faculty of Medicine, University of Malaya, 50603, Kuala Lumpur, Malaysia.
Zakaria Z; Haematology Unit, Cancer Research Centre, Institute for Medical Research, National Institutes of Health, Ministry of Health Malaysia, 40170, Shah Alam, Selangor, Malaysia.
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Źródło:
Journal of medical case reports [J Med Case Rep] 2023 Jun 10; Vol. 17 (1), pp. 250. Date of Electronic Publication: 2023 Jun 10.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Intellectual Disability*/diagnosis
Intellectual Disability*/genetics
Chromosome Disorders*/diagnosis
Chromosome Disorders*/genetics
Humans ; Comparative Genomic Hybridization ; Chromosomes, Human, Pair 18/genetics ; Chromosome Deletion
SCR Disease Name:
Chromosome 18 deletion syndrome
Czasopismo naukowe
Tytuł:
Practices and challenges for hemophilia management under resource constraints in Thailand.
Autorzy:
Moonla C; Department of Medicine, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok, Thailand.; Center of Excellence in Translational Hematology, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok, Thailand.
Sosothikul D; Department of Pediatrics, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Rama IV Road, Pathumwan, Bangkok, 10330, Thailand. .; Integrative and Innovative Hematology/Oncology Research Unit, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok, Thailand. .
Pongtanakul B; Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Suwanawiboon B; Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Traivaree C; Department of Pediatrics, Phramongkutklao College of Medicine and Phramongkutklao Hospital, Bangkok, Thailand.
Natesirinilkul R; Department of Pediatrics, Faculty of Medicine, Chiang Mai University and Maharaj Nakorn Chiang Mai Hospital, Chiang Mai, Thailand.
Sirachainan N; Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Angchaisuksiri P; Department of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 May 10; Vol. 18 (1), pp. 110. Date of Electronic Publication: 2023 May 10.
Typ publikacji:
Letter; Research Support, Non-U.S. Gov't
MeSH Terms:
Hemophilia A*/therapy
Medicine*
Hemophilia B*
General Practitioners*
Sex Chromosome Disorders*
Humans ; Thailand
Raport
Tytuł:
Gene sequencing and result analysis of balanced translocation carriers by third-generation gene sequencing technology.
Autorzy:
Zeng X; Fujian Provincial Sperm Bank, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China. .; Obstetrics Department of Longyan First Hospital of Fujian Medical University, Fuzhou, China. .
Lin D; Fujian Provincial Sperm Bank, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China.
Liang D; Fujian Provincial Sperm Bank, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China.
Huang J; Fujian Provincial Sperm Bank, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China.
Yi J; Fujian Provincial Sperm Bank, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China.
Lin D; Fujian Provincial Sperm Bank, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China. .
Zhang Z; Fujian Provincial Sperm Bank, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China.
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Źródło:
Scientific reports [Sci Rep] 2023 Apr 28; Vol. 13 (1), pp. 7004. Date of Electronic Publication: 2023 Apr 28.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Translocation, Genetic*
Chromosome Disorders*/genetics
Female ; Pregnancy ; Humans ; Chromosome Breakpoints ; Heterozygote ; Genetic Testing
Czasopismo naukowe
Tytuł:
Identification of 17q12 microdeletion syndrome in a Latin American patient with maturity-onset diabetes of the young subtype 5: a case report.
Autorzy:
Guzmán GE; Departamento de Endocrinología, Fundación Valle del Lili, Calle 18 No. 122-135, 760032, Cali, Colombia.
Madariaga I; Facultad de Ciencias de la Salud, Universidad Icesi, Calle 18 No. 122-135, 760032, Cali, Colombia.
Vargas CJ; Facultad de Ciencias de la Salud, Universidad Icesi, Calle 18 No. 122-135, 760032, Cali, Colombia.
Galeano LB; Centro de Investigaciones Clínicas, Fundación Valle del Lili, Cra 98 No.18-49, 760032, Cali, Colombia.
Guerra MA; Centro de Investigaciones Clínicas, Fundación Valle del Lili, Cra 98 No.18-49, 760032, Cali, Colombia. .
Nastasi JA; Departamento de Genética, Fundación Valle del Lili, Calle 18 No. 122-135, 760032, Cali, Colombia.
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Źródło:
Journal of medical case reports [J Med Case Rep] 2023 Apr 05; Vol. 17 (1), pp. 152. Date of Electronic Publication: 2023 Apr 05.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Diabetes Mellitus, Type 2*/complications
Diabetes Mellitus, Type 2*/genetics
Diabetes Mellitus, Type 2*/diagnosis
Chromosome Disorders*/genetics
Pregnancy ; Humans ; Female ; Adult ; Chromosome Deletion ; Latin America ; Syndrome
SCR Disease Name:
Mason-Type Diabetes
Czasopismo naukowe
Tytuł:
3q29 microduplication syndrome: New evidence for the refinement of the critical region.
Autorzy:
Bauleo A; BIOGENET, Medical and Forensic Genetics Laboratory, Cosenza, Italy.
Pace V; BIOGENET, Medical and Forensic Genetics Laboratory, Cosenza, Italy.
Montesanto A; Department of Biology, Ecology and Earth Sciences, University of Calabria, Rende, Italy.
De Stefano L; BIOGENET, Medical and Forensic Genetics Laboratory, Cosenza, Italy.
Brando R; BIOGENET, Medical and Forensic Genetics Laboratory, Cosenza, Italy.
Puntorieri D; Dipartimento Materno Infantile Neuropsichiatria Infanzia e Adolescenza Rossano - Cariati, Azienda Sanitaria Provinciale di Cosenza, Cosenza, Italy.
Cento L; Dipartimento Materno Infantile Neuropsichiatria Infanzia e Adolescenza Rossano - Cariati, Azienda Sanitaria Provinciale di Cosenza, Cosenza, Italy.
Genuardi M; UOC Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Dipartimento di Scienze della Vita e Sanità Pubblica, Università Cattolica del Sacro Cuore, Rome, Italy.
Falcone E; BIOGENET, Medical and Forensic Genetics Laboratory, Cosenza, Italy.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Apr; Vol. 11 (4), pp. e2130. Date of Electronic Publication: 2023 Jan 24.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Autism Spectrum Disorder*/genetics
Chromosome Disorders*/genetics
Male ; Humans ; Chromosome Duplication
SCR Disease Name:
Chromosome 3q29 Duplication Syndrome
Czasopismo naukowe
Tytuł:
Investigation of the functional impact of CHED- and FECD4-associated SLC4A11 mutations in human corneal endothelial cells.
Autorzy:
Chung DD; Department of Ophthalmology, Stein Eye Institute at UCLA, Los Angeles, California, United States of America.
Chen AC; Department of Ophthalmology, Stein Eye Institute at UCLA, Los Angeles, California, United States of America.
Choo CH; Department of Ophthalmology, Stein Eye Institute at UCLA, Los Angeles, California, United States of America.
Zhang W; Department of Ophthalmology, Stein Eye Institute at UCLA, Los Angeles, California, United States of America.
Williams D; Department of Ophthalmology, Stein Eye Institute at UCLA, Los Angeles, California, United States of America.
Griffis CG; Department of Ophthalmology, Stein Eye Institute at UCLA, Los Angeles, California, United States of America.
Bonezzi P; Department of Ophthalmology, Stein Eye Institute at UCLA, Los Angeles, California, United States of America.
Jatavallabhula K; Department of Ophthalmology, Stein Eye Institute at UCLA, Los Angeles, California, United States of America.
Sampath AP; Department of Ophthalmology, Stein Eye Institute at UCLA, Los Angeles, California, United States of America.
Aldave AJ; Department of Ophthalmology, Stein Eye Institute at UCLA, Los Angeles, California, United States of America.
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Źródło:
PloS one [PLoS One] 2024 Jan 22; Vol. 19 (1), pp. e0296928. Date of Electronic Publication: 2024 Jan 22 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Anion Transport Proteins*/genetics
Antiporters*/genetics
Corneal Dystrophies, Hereditary*/genetics
Fuchs' Endothelial Dystrophy*/genetics
Humans ; Chromosome Disorders ; Endothelial Cells ; Mutation ; SLC4A Proteins
SCR Disease Name:
Corneal Dystrophy, Fuchs Endothelial, 4
Czasopismo naukowe
Tytuł:
Outcomes of two different unbalanced segregations from a maternal t(4;10)(q33;p15.1) translocation.
Autorzy:
Fan J; Department of Medicine, University of California, 10833 Le Conte Avenue, Los Angeles, CA, 90095, USA.
Senaratne TN; Department of Pathology and Laboratory Medicine, UCLA Clinical Genomics Center, University of California, Los Angeles, USA.
Liu JY; Department of Medicine, University of California, 10833 Le Conte Avenue, Los Angeles, CA, 90095, USA.
Bina M; Department of Human Genetics, Sarah Lawrence College, Bronxville, USA.
Martinez-Agosto JA; Departments of Human Genetics, Pediatrics and Psychiatry, University of California, Los Angeles, USA.
Quintero-Rivera F; Department of Pathology and Laboratory Medicine, UCLA Clinical Genomics Center, University of California, Los Angeles, USA.
Wang JJ; Department of Medicine, University of California, 10833 Le Conte Avenue, Los Angeles, CA, 90095, USA. .
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Źródło:
BMC medical genomics [BMC Med Genomics] 2023 Mar 29; Vol. 16 (1), pp. 65. Date of Electronic Publication: 2023 Mar 29.
Typ publikacji:
Case Reports; Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Intellectual Disability*/genetics
Chromosome Disorders*/genetics
Humans ; Male ; Female ; Adult ; Chromosome Deletion ; Trisomy/genetics ; Translocation, Genetic ; Chromosome Aberrations
Czasopismo naukowe
Tytuł:
Detection rates of abnormalities in over 10,000 amniotic fluid samples at a single laboratory.
Autorzy:
Lu S; Zhejiang Chinese Medical University, Hangzhou, Zhejiang, People's Republic of China.; Prenatal Screening and Prenatal Diagnosis Center, Hangzhou Women's Hospital (Hangzhou Maternity and Child Health Care Hospital), No. 369 Kunpeng Rd., Hangzhou, Zhejiang, 310008, People's Republic of China.
Kakongoma N; Zhejiang Chinese Medical University, Hangzhou, Zhejiang, People's Republic of China.
Hu WS; Zhejiang Chinese Medical University, Hangzhou, Zhejiang, People's Republic of China.; Prenatal Screening and Prenatal Diagnosis Center, Hangzhou Women's Hospital (Hangzhou Maternity and Child Health Care Hospital), No. 369 Kunpeng Rd., Hangzhou, Zhejiang, 310008, People's Republic of China.
Zhang YZ; Prenatal Screening and Prenatal Diagnosis Center, Hangzhou Women's Hospital (Hangzhou Maternity and Child Health Care Hospital), No. 369 Kunpeng Rd., Hangzhou, Zhejiang, 310008, People's Republic of China.
Yang NN; Prenatal Screening and Prenatal Diagnosis Center, Hangzhou Women's Hospital (Hangzhou Maternity and Child Health Care Hospital), No. 369 Kunpeng Rd., Hangzhou, Zhejiang, 310008, People's Republic of China.
Zhang W; Prenatal Screening and Prenatal Diagnosis Center, Hangzhou Women's Hospital (Hangzhou Maternity and Child Health Care Hospital), No. 369 Kunpeng Rd., Hangzhou, Zhejiang, 310008, People's Republic of China.
Mao AF; Prenatal Screening and Prenatal Diagnosis Center, Hangzhou Women's Hospital (Hangzhou Maternity and Child Health Care Hospital), No. 369 Kunpeng Rd., Hangzhou, Zhejiang, 310008, People's Republic of China.
Liang Y; Department of Neurobiology and Acupuncture Research, The Third School of Clinical Medicine, Zhejiang Chinese Medical University, Key Laboratory of Acupuncture and Neurology of Zhejiang Province, 548 Binwen Road, Binjiang District, Hangzhou, 310053, Zhejiang, People's Republic of China. .
Zhang ZF; Zhejiang Chinese Medical University, Hangzhou, Zhejiang, People's Republic of China. .; Prenatal Screening and Prenatal Diagnosis Center, Hangzhou Women's Hospital (Hangzhou Maternity and Child Health Care Hospital), No. 369 Kunpeng Rd., Hangzhou, Zhejiang, 310008, People's Republic of China. .
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Źródło:
BMC pregnancy and childbirth [BMC Pregnancy Childbirth] 2023 Feb 08; Vol. 23 (1), pp. 102. Date of Electronic Publication: 2023 Feb 08.
Typ publikacji:
Journal Article
MeSH Terms:
Chromosome Disorders*/diagnosis
Female ; Pregnancy ; Humans ; Amniotic Fluid ; DNA Copy Number Variations ; Retrospective Studies ; Prenatal Diagnosis/methods ; Aneuploidy
Czasopismo naukowe
Tytuł:
High-precision automatic identification method for dicentric chromosome images using two-stage convolutional neural network.
Autorzy:
Shen X; School of Mechanical Engineering and Automation, Beihang University, Beijing, 100083, China.
Ma T; School of Mechanical Engineering and Automation, Beihang University, Beijing, 100083, China.
Li C; Beijing Huironghe Technology Co., Ltd., Beijing, 101102, China.
Wen Z; Beijing Huironghe Technology Co., Ltd., Beijing, 101102, China.
Zheng J; Beijing Huironghe Technology Co., Ltd., Beijing, 101102, China.
Zhou Z; School of Mechanical Engineering and Automation, Beihang University, Beijing, 100083, China. .; Ningbo Institute of Technology, Beihang University, Ningbo, 315800, China. .
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Źródło:
Scientific reports [Sci Rep] 2023 Feb 06; Vol. 13 (1), pp. 2124. Date of Electronic Publication: 2023 Feb 06.
Typ publikacji:
Journal Article
MeSH Terms:
Chromosome Disorders*
Humans ; Neural Networks, Computer ; Algorithms ; Centromere ; Image Processing, Computer-Assisted/methods
Czasopismo naukowe

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