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Tytuł:
Anesthesia management for a child with the Koolen-de Vries syndrome: a case report.
Autorzy:
Zhao Y; Department of Anesthesiology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.; The Research Units of West China (2018RU012)-Chinese Academy of Medical Sciences, West China Hospital, Sichuan University, Chengdu, China.
Zuo Y; Department of Anesthesiology, West China Hospital, Sichuan University, Chengdu, Sichuan, China. .; The Research Units of West China (2018RU012)-Chinese Academy of Medical Sciences, West China Hospital, Sichuan University, Chengdu, China. .
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Źródło:
BMC anesthesiology [BMC Anesthesiol] 2024 Apr 13; Vol. 24 (1), pp. 143. Date of Electronic Publication: 2024 Apr 13.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Intellectual Disability*
Laryngomalacia*
Abnormalities, Multiple*
Chromosome Deletion*
Male ; Child ; Female ; Humans ; Infant ; Child, Preschool ; Muscle Hypotonia ; Rare Diseases ; Anesthesia, General ; Chromosomes, Human, Pair 17
SCR Disease Name:
Chromosome 17q21.31 Deletion Syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462.
Autorzy:
Brady L; Hamilton Health Sciences Centre, Hamilton, Ontario, Canada.; Division of Neuromuscular & Neurometabolic Disorders, Department of Paediatrics, McMaster University, Hamilton, Ontario, Canada.
Ballantyne M; Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences Centre, Hamilton, Ontario, Canada.
Duck J; Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences Centre, Hamilton, Ontario, Canada.
Fisker T; Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences Centre, Hamilton, Ontario, Canada.
Kleefman R; Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences Centre, Hamilton, Ontario, Canada.
Li C; Hamilton Health Sciences Centre, Hamilton, Ontario, Canada.; Division of Genetics, Department of Paediatrics, McMaster University, Hamilton, Ontario, Canada.
Nfonsam L; Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences Centre, Hamilton, Ontario, Canada.; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.
Schultz LA; Hamilton Health Sciences Centre, Hamilton, Ontario, Canada.; Division of Genetics, Department of Paediatrics, McMaster University, Hamilton, Ontario, Canada.
Tarnopolsky M; Hamilton Health Sciences Centre, Hamilton, Ontario, Canada.; Division of Neuromuscular & Neurometabolic Disorders, Department of Paediatrics, McMaster University, Hamilton, Ontario, Canada.
McCready E; Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences Centre, Hamilton, Ontario, Canada.; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Mar; Vol. 11 (3), pp. e2116. Date of Electronic Publication: 2022 Dec 03.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosome Deletion*
Abnormalities, Multiple*/genetics
Humans ; Syndrome ; Phenotype ; Chromosome Structures ; DNA-Binding Proteins/genetics ; Nerve Tissue Proteins/genetics ; Transcription Factors/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature.
Autorzy:
Choi Y; Department of Pediatrics, CHA Bundang Medical Center, CHA University, Seongnam, South Korea.
Choi J; Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.
Do H; Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.
Hwang S; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea.
Seo GH; 3billion Inc., Seoul, South Korea.
Choi IH; Department of Genetic Counseling, University of Ulsan College of Medicine, Seoul, South Korea.
Keum C; 3billion Inc., Seoul, South Korea.
Choi JH; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea.
Kang M; Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.
Kim GH; Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.
Yoo HW; Department of Pediatrics, CHA Bundang Medical Center, CHA University, Seongnam, South Korea.
Lee BH; Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Apr; Vol. 11 (4), pp. e2127. Date of Electronic Publication: 2022 Dec 23.
Typ publikacji:
Review; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Abnormalities, Multiple*/genetics
Abnormalities, Multiple*/diagnosis
Intellectual Disability*/genetics
Intellectual Disability*/diagnosis
Bone Diseases, Developmental*/genetics
Tooth Abnormalities*/genetics
Tooth Abnormalities*/diagnosis
Humans ; Facies ; Comparative Genomic Hybridization ; Chromosome Deletion ; Repressor Proteins/genetics ; Transcription Factors/genetics ; Republic of Korea
SCR Disease Name:
KBG syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1.
Autorzy:
Engwerda A; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Kerstjens-Frederikse WS; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Corsten-Janssen N; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Dijkhuizen T; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
van Ravenswaaij-Arts CMA; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. .; ATN/Jonx, Groningen, The Netherlands. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Mar 19; Vol. 18 (1), pp. 59. Date of Electronic Publication: 2023 Mar 19.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Abnormalities, Multiple*/genetics
Nervous System Malformations*/genetics
Social Media*
Female ; Humans ; Chromosome Deletion ; Chromosomes, Human, Pair 6 ; Phenotype ; Seizures/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.
Autorzy:
Bestetti I; Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20142 Milan, Italy.; Department of Medical Biotechnology and Translational Medicine, University of Milan, 20142 Milan, Italy.
Crippa M; Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20142 Milan, Italy.; Department of Medical Biotechnology and Translational Medicine, University of Milan, 20142 Milan, Italy.
Sironi A; Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20142 Milan, Italy.; Department of Medical Biotechnology and Translational Medicine, University of Milan, 20142 Milan, Italy.
Tumiatti F; Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20142 Milan, Italy.
Masciadri M; Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20142 Milan, Italy.
Smeland MF; Department of Medical Genetics, University Hospital of North Norway, 9019 Tromsø, Norway.
Naik S; Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham B15 2TG, UK.
Murch O; All Wales Medical Genomics Service, University Hospital of Wales, Cardiff CF14 4XW, UK.
Bonati MT; Clinic of Medical Genetics, San Luca Hospital, IRCCS Istituto Auxologico Italiano, 20142 Milan, Italy.
Spano A; Clinical Pediatric Genetic Unit, Pediatric Clinic, Fondazione MBBM, San Gerardo Hospital, 20900 Monza, Italy.
Cattaneo E; Clinical Genetics Unit, Department of Obstetrics and Gynecology, 'V. Buzzi' Children's Hospital, University of Milan, 20142 Milan, Italy.
Mariani M; Pediatric Unit, ASST Lariana, 22100 Como, Italy.
Gotta F; Clinical Genetics, ASST Cremona, Via Concordia 1, 26100 Cremona, Italy.
Crosti F; Medical Genetics Laboratory, Clinical Pathology Department, S. Gerardo Hospital, 20900 Monza, Italy.
Cavalli P; Clinical Genetics, ASST Cremona, Via Concordia 1, 26100 Cremona, Italy.
Pantaleoni C; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20142 Milan, Italy.
Natacci F; Medical Genetic Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20142 Milan, Italy.
Bedeschi MF; Medical Genetic Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20142 Milan, Italy.
Milani D; Pediatric Highly Intensive Care, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20142 Milan, Italy.
Maitz S; Clinical Pediatric Genetic Unit, Pediatric Clinic, Fondazione MBBM, San Gerardo Hospital, 20900 Monza, Italy.; Service of Medical Genetics, Oncologic Institute of Southern Switzerland, EOC, 6900 Lugano, Switzerland.
Selicorni A; Pediatric Unit, ASST Lariana, 22100 Como, Italy.
Spaccini L; Clinical Genetics Unit, Department of Obstetrics and Gynecology, 'V. Buzzi' Children's Hospital, University of Milan, 20142 Milan, Italy.
Peron A; Child Neuropsychiatry Unit-Epilepsy Center, Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, 20142 Milan, Italy.; Medical Genetics, ASST Santi Paolo e Carlo, San Paolo Hospital, 20142 Milan, Italy.; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA.
Russo S; Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20142 Milan, Italy.
Larizza L; Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20142 Milan, Italy.
Low K; University Hospitals Bristol NHS Trust, University of Bristol, Bristol BS1 3NU, UK.
Finelli P; Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20142 Milan, Italy.; Department of Medical Biotechnology and Translational Medicine, University of Milan, 20142 Milan, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 May 25; Vol. 23 (11). Date of Electronic Publication: 2022 May 25.
Typ publikacji:
Journal Article
MeSH Terms:
Abnormalities, Multiple*/genetics
Bone Diseases, Developmental*
Intellectual Disability*/genetics
Tooth Abnormalities*/diagnosis
Tooth Abnormalities*/genetics
Chromosome Deletion ; Facies ; Humans ; Phenotype ; Repressor Proteins/genetics ; Transcription Factors/genetics
SCR Disease Name:
KBG syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Analysis of 17 Prenatal Cases with the Chromosomal 1q21.1 Copy Number Variation.
Autorzy:
Wen X; Prenatal Diagnosis Center, Haidian Maternal and Child Health Care Hospital, Beijing, China.
Xing H; Prenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital, Langfang, Hebei, China.
Qi K; Prenatal Diagnosis Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China.
Wang H; Prenatal Diagnosis Center, Hangzhou Women's Hospital, Hangzhou, Zhejiang, China.; Department of Cell Biology and Medical Genetics, School of Medicine, Zhejiang University, Hangzhou, China.
Li X; Prenatal Diagnosis Center, Haidian Maternal and Child Health Care Hospital, Beijing, China.
Zhu J; Prenatal Diagnosis Center, Haidian Maternal and Child Health Care Hospital, Beijing, China.
Chen W; Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang, Hebei, China.
Cui L; Prenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital, Langfang, Hebei, China.
Zhang J; Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang, Hebei, China.
Qi H; Prenatal Diagnosis Center, Haidian Maternal and Child Health Care Hospital, Beijing, China.
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Źródło:
Disease markers [Dis Markers] 2022 Apr 27; Vol. 2022, pp. 5487452. Date of Electronic Publication: 2022 Apr 27 (Print Publication: 2022).
Typ publikacji:
Journal Article
MeSH Terms:
DNA Copy Number Variations*
Abnormalities, Multiple*/genetics
Pregnancy ; Female ; Humans ; Chromosome Deletion ; Prenatal Diagnosis/methods
SCR Disease Name:
Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A novel interstitial deletion of chromosome 2q21.1-q23.3: Case report and literature review.
Autorzy:
Almuzzaini B; Department of Medical Genomics Research, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
Alatwi NS; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Alsaif S; College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; Department of Neonatal Intensive Care Unit, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
Al Balwi MA; Department of Medical Genomics Research, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Apr; Vol. 8 (4), pp. e1135. Date of Electronic Publication: 2020 Jan 28.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:
Chromosome Deletion*
Abnormalities, Multiple/*genetics
Agenesis of Corpus Callosum/*genetics
Chromosome Disorders/*genetics
Chromosomes, Human, Pair 2/*genetics
Heart Defects, Congenital/*genetics
Abnormalities, Multiple/pathology ; Agenesis of Corpus Callosum/pathology ; Chromosome Disorders/pathology ; Heart Defects, Congenital/pathology ; Humans ; Infant, Newborn ; Infant, Premature ; Male
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
4q27 deletion and 7q36.1 microduplication in a patient with multiple malformations and hearing loss: a case report.
Autorzy:
Wu M; Department of Pediatrics, XiangYa Hospital, Central South University, Changsha, China.
Zheng X; Department of Pediatrics, XiangYa Hospital, Central South University, Changsha, China. .
Wang X; Department of Pediatrics, XiangYa Hospital, Central South University, Changsha, China.
Zhang G; Department of Pediatrics, XiangYa Hospital, Central South University, Changsha, China.
Kuang J; Department of Pediatrics, XiangYa Hospital, Central South University, Changsha, China.
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Źródło:
BMC medical genomics [BMC Med Genomics] 2020 Mar 03; Vol. 13 (1), pp. 31. Date of Electronic Publication: 2020 Mar 03.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosome Deletion*
Chromosome Duplication*
Abnormalities, Multiple/*genetics
Chromosomes, Human, Pair 4/*genetics
Chromosomes, Human, Pair 7/*genetics
Hearing Loss/*genetics
Humans ; Infant ; Male
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Chromosome 1q Terminal Deletion and Congenital Glaucoma: A Case Report.
Autorzy:
AlSaad R; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
ElMansoury J; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Department of Ophthalmology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
AlHazzaa SAF; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Department of Ophthalmology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Dirar QS; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Department of Ophthalmology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
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Źródło:
The American journal of case reports [Am J Case Rep] 2020 Jan 12; Vol. 21, pp. e918128. Date of Electronic Publication: 2020 Jan 12.
Typ publikacji:
Case Reports
MeSH Terms:
Chromosome Deletion*
Abnormalities, Multiple/*genetics
Chromosomes, Human, Pair 1/*genetics
Glaucoma/*congenital
Child ; Chromosome Banding ; Female ; Genetic Testing ; Humans ; Karyotyping ; Phenotype
Raport
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Schizencephaly accompanied by occipital encephalocele and deletion of chromosome 22q13.32: a case report.
Autorzy:
Inan C; Division of Perinatology, Department of Obstetrics & Gynecology, Faculty of Medicine, Trakya University, Edirne, Turkey.
Sayin NC; Division of Perinatology, Department of Obstetrics & Gynecology, Faculty of Medicine, Trakya University, Edirne, Turkey.
Gurkan H; Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey.
Atli E; Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey.
Gursoy Erzincan S; Division of Perinatology, Department of Obstetrics & Gynecology, Faculty of Medicine, Trakya University, Edirne, Turkey.
Uzun I; Division of Perinatology, Department of Obstetrics & Gynecology, Faculty of Medicine, Trakya University, Edirne, Turkey.
Sutcu H; Division of Perinatology, Department of Obstetrics & Gynecology, Faculty of Medicine, Trakya University, Edirne, Turkey.
Dogan S; Department of Radiology, Faculty of Medicine, Trakya University, Edirne, Turkey.
Ikbal Atli E; Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey.
Varol F; Division of Perinatology, Department of Obstetrics & Gynecology, Faculty of Medicine, Trakya University, Edirne, Turkey.
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Źródło:
Fetal and pediatric pathology [Fetal Pediatr Pathol] 2019 Dec; Vol. 38 (6), pp. 496-502. Date of Electronic Publication: 2019 May 26.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Chromosome Deletion*
Chromosomes, Human, Pair 22*
Abnormalities, Multiple/*genetics
Encephalocele/*genetics
Schizencephaly/*genetics
Agenesis of Corpus Callosum/genetics ; Comparative Genomic Hybridization/methods ; Encephalocele/diagnosis ; Female ; Humans ; Schizencephaly/diagnosis ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Clinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects.
Autorzy:
Rojnueangnit K; Department of Pediatrics, Faculty of Medicine, Thammasat University, Bangkok, Thailand.
Charalsawadi C; Division of Human Genetics, Department of Pathology, Faculty of Medicine, Prince of Songkla University, Hat Yai, Thailand.
Thammachote W; Program in Translational Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Pradabmuksiri A; Department of Pediatrics, Faculty of Medicine, Thammasat University, Bangkok, Thailand.; Division of Pediatrics, Surat Thani Hospital, Surat thani, Thailand.
Tim-Aroon T; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Novelli A; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Loddo S; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Briuglia S; Department of Bio-Morphology, Genetics Unit, University of Messina, Messina, Italy.
Concetta CM; Department of Pediatrics, University of Messina, Messina, Italy.
Wattanasirichaigoon D; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Jinawath N; Program in Translational Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.; Integrative Computational Bioscience Center, Mahidol University, Nakhon Pathom, Thailand.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Sep; Vol. 7 (9), pp. e896. Date of Electronic Publication: 2019 Aug 07.
Typ publikacji:
Clinical Trial; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms:
Abnormalities, Multiple*/genetics
Abnormalities, Multiple*/pathology
Chromosome Deletion*
Databases, Genetic*
Heart Defects, Congenital*/genetics
Heart Defects, Congenital*/pathology
Intellectual Disability*/genetics
Intellectual Disability*/pathology
Language Development Disorders*/genetics
Language Development Disorders*/pathology
Mental Disorders*/genetics
Mental Disorders*/pathology
Chromosomes, Human, Pair 18/*genetics
Child, Preschool ; Female ; GATA6 Transcription Factor/genetics ; Haploinsufficiency ; Humans ; Infant ; Male
SCR Disease Name:
Conotruncal cardiac defects
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
An eight-case 1q21 region series: novel aberrations and clinical variability with new features.
Autorzy:
Ceylan AC; Faculty of Medicine, Department of Medical Genetics, Hacettepe University, Ankara, Turkey.; Department of Medical Genetics, Ankara Ataturk Training and Research Hospital, Yildirim Beyazit University, Ankara, Turkey.
Sahin I; Faculty of Medicine, Department of Medical Genetics, Ataturk University, Erzurum, Turkey.; Department of Medical Genetics, Ankara Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey.
Erdem HB; Faculty of Medicine, Department of Medical Genetics, Ataturk University, Erzurum, Turkey.; Department of Medical Genetics, Ankara Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey.
Kayhan G; Faculty of Medicine, Department of Medical Genetics, Gazi University, Ankara, Turkey.
Simsek-Kiper PO; Faculty of Medicine, Department of Pediatric Genetics, Hacettepe University, Ankara, Turkey.
Utine GE; Faculty of Medicine, Department of Pediatric Genetics, Hacettepe University, Ankara, Turkey.
Percin F; Faculty of Medicine, Department of Medical Genetics, Gazi University, Ankara, Turkey.
Boduroglu K; Faculty of Medicine, Department of Medical Genetics, Hacettepe University, Ankara, Turkey.; Faculty of Medicine, Department of Pediatric Genetics, Hacettepe University, Ankara, Turkey.
Alikasifoglu M; Faculty of Medicine, Department of Medical Genetics, Hacettepe University, Ankara, Turkey.; Faculty of Medicine, Department of Pediatric Genetics, Hacettepe University, Ankara, Turkey.
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Źródło:
Journal of intellectual disability research : JIDR [J Intellect Disabil Res] 2019 Jun; Vol. 63 (6), pp. 548-557. Date of Electronic Publication: 2019 Feb 18.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Abnormalities, Multiple*/genetics
Abnormalities, Multiple*/pathology
Abnormalities, Multiple*/physiopathology
Chromosome Deletion*
Intellectual Disability*/etiology
Intellectual Disability*/genetics
Intellectual Disability*/physiopathology
Megalencephaly*/complications
Megalencephaly*/genetics
Megalencephaly*/pathology
Megalencephaly*/physiopathology
Chromosome Duplication/*genetics
Chromosomes, Human, Pair 1/*genetics
Adolescent ; Child ; Child, Preschool ; Consanguinity ; DNA Copy Number Variations ; Female ; Humans ; Infant ; Male ; Microarray Analysis ; RNA-Binding Proteins/genetics ; Sequence Analysis, DNA
SCR Disease Name:
Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Dissecting Molecular Genetic Mechanisms of 1q21.1 CNV in Neuropsychiatric Disorders.
Autorzy:
Yoon J; Department of Biology, Eberly College of Science, Pennsylvania State University, University Park, PA 16802, USA.
Mao Y; Department of Biology, Eberly College of Science, Pennsylvania State University, University Park, PA 16802, USA.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 May 28; Vol. 22 (11). Date of Electronic Publication: 2021 May 28.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Genetic Predisposition to Disease*
Abnormalities, Multiple/*genetics
DNA Copy Number Variations/*genetics
Megalencephaly/*genetics
Mental Disorders/*genetics
Autism Spectrum Disorder/genetics ; Chromosome Deletion ; Chromosome Duplication ; Chromosomes, Human, Pair 1/genetics ; Genome-Wide Association Study ; Humans ; Microcephaly/genetics ; Neurodegenerative Diseases/genetics ; Neurodevelopmental Disorders/genetics ; Schizophrenia/genetics
SCR Disease Name:
Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Prenatal ultrasound findings in Koolen-de Vries foetuses: Central nervous system anomalies are frequent markers of this syndrome.
Autorzy:
García-Santiago FA; INGEMM, Institute of Medical and Molecular Genetics-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; Universidad Autónoma de Madrid, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Unidad 753, ISCIII, Madrid, Spain.; The European Reference Network on Intellectual Disability, TeleHealth and Congenital Anomalies (ERN ITHACA), Brussels, Belgium.
Martínez-Payo C; Department of Gynecology and Obstetrics, Hospital Universitario Puerta de Hierro, Madrid, Spain.
Mansilla E; INGEMM, Institute of Medical and Molecular Genetics-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; Universidad Autónoma de Madrid, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Unidad 753, ISCIII, Madrid, Spain.; The European Reference Network on Intellectual Disability, TeleHealth and Congenital Anomalies (ERN ITHACA), Brussels, Belgium.
Santos-Simarro F; INGEMM, Institute of Medical and Molecular Genetics-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; Universidad Autónoma de Madrid, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Unidad 753, ISCIII, Madrid, Spain.; The European Reference Network on Intellectual Disability, TeleHealth and Congenital Anomalies (ERN ITHACA), Brussels, Belgium.
Ruiz de Azua Ballesteros M; Department of Gynecology and Obstetrics, Hospital Universitario Puerta de Hierro, Madrid, Spain.
Mori MÁ; INGEMM, Institute of Medical and Molecular Genetics-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; Universidad Autónoma de Madrid, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Unidad 753, ISCIII, Madrid, Spain.
Antolín Alvarado E; Universidad Autónoma de Madrid, Madrid, Spain.; Department of Gynecology and Obstetrics, Hospital Universitario La Paz, Madrid, Spain.
Nieto Y; Department of Gynecology and Obstetrics, Hospital Universitario Puerta de Hierro, Madrid, Spain.
Vallcorba I; INGEMM, Institute of Medical and Molecular Genetics-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
Tenorio J; INGEMM, Institute of Medical and Molecular Genetics-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; Universidad Autónoma de Madrid, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Unidad 753, ISCIII, Madrid, Spain.; The European Reference Network on Intellectual Disability, TeleHealth and Congenital Anomalies (ERN ITHACA), Brussels, Belgium.
Nevado J; INGEMM, Institute of Medical and Molecular Genetics-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; Universidad Autónoma de Madrid, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Unidad 753, ISCIII, Madrid, Spain.; The European Reference Network on Intellectual Disability, TeleHealth and Congenital Anomalies (ERN ITHACA), Brussels, Belgium.
Lapunzina P; INGEMM, Institute of Medical and Molecular Genetics-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; Universidad Autónoma de Madrid, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Unidad 753, ISCIII, Madrid, Spain.; The European Reference Network on Intellectual Disability, TeleHealth and Congenital Anomalies (ERN ITHACA), Brussels, Belgium.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 May; Vol. 9 (5), pp. e1649. Date of Electronic Publication: 2021 Mar 18.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Genetic Testing*
Ultrasonography, Prenatal*
Abnormalities, Multiple/*diagnostic imaging
Cerebral Ventricles/*diagnostic imaging
Corpus Callosum/*diagnostic imaging
Intellectual Disability/*diagnostic imaging
Abnormalities, Multiple/genetics ; Abnormalities, Multiple/pathology ; Adult ; Cerebral Ventricles/embryology ; Chromosome Deletion ; Chromosomes, Human, Pair 17/genetics ; Corpus Callosum/embryology ; Female ; Humans ; Infant, Newborn ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Male ; Pregnancy
SCR Disease Name:
Chromosome 17q21.31 Deletion Syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Identification of microdeletion and microduplication syndromes by chromosomal microarray in patients with intellectual disability with dysmorphism.
Autorzy:
Panigrahi I; Genetic and Metabolic Unit, Department of Pediatrics, Advanced Pediatric Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Jain P; Genetic and Metabolic Unit, Department of Pediatrics, Advanced Pediatric Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Didel S; Genetic and Metabolic Unit, Department of Pediatrics, Advanced Pediatric Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Agarwal S; Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Muthuswamy S; Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Saha A; Genetic and Metabolic Unit, Department of Pediatrics, Advanced Pediatric Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Kulkarni V; Genetic and Metabolic Unit, Department of Pediatrics, Advanced Pediatric Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
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Źródło:
Neurology India [Neurol India] 2018 Sep-Oct; Vol. 66 (5), pp. 1370-1376.
Typ publikacji:
Journal Article
MeSH Terms:
Chromosome Deletion*
Chromosome Duplication*
Abnormalities, Multiple/*genetics
Intellectual Disability/*genetics
Child ; Child, Preschool ; Comparative Genomic Hybridization ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Male ; Retrospective Studies
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Concurrent somatic KRAS mutation and germline 10q22.3-q23.2 deletion in a patient with juvenile myelomonocytic leukemia, developmental delay, and multiple malformations: a case report.
Autorzy:
Yao R; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, People's Republic of China.; Institute for Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, People's Republic of China.
Yu T; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, People's Republic of China. .; Institute for Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, People's Republic of China. .
Xu Y; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, People's Republic of China.; Institute for Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, People's Republic of China.
Li G; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, People's Republic of China.; Institute for Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, People's Republic of China.
Yin L; Department of Internal Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, People's Republic of China.; Rare Diseases Outpatient Clinic, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, People's Republic of China.
Zhou Y; Rare Diseases Outpatient Clinic, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, 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, Shanghai, 200127, People's Republic of China.; Institute for Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, People's Republic of China.
Yan Z; Department of Pediatric Surgery, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, People's Republic of China. .
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Źródło:
BMC medical genomics [BMC Med Genomics] 2018 Jul 16; Vol. 11 (1), pp. 60. Date of Electronic Publication: 2018 Jul 16.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Abnormalities, Multiple*
Chromosome Deletion*
Germ-Line Mutation*
Developmental Disabilities/*complications
Leukemia, Myelomonocytic, Juvenile/*complications
Leukemia, Myelomonocytic, Juvenile/*genetics
Proto-Oncogene Proteins p21(ras)/*genetics
Child, Preschool ; Humans ; Male ; Proto-Oncogene Mas
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A 15q25.2 microdeletion phenotype for premature ovarian failure in a Chinese girl: a case report and review of literature.
Autorzy:
Chen Z; Department of Pathology, The First Affiliated Hospital of Medical College, Zhejiang University, Hangzhou, 310003, Zhejiang province, China.
Chen H; Department of Pediatrics, The First Affiliated Hospital of Medical College, Zhejiang University, Hangzhou, 310003, Zhejiang province, China.
Yuan K; Department of Pediatrics, The First Affiliated Hospital of Medical College, Zhejiang University, Hangzhou, 310003, Zhejiang province, China.
Wang C; Department of Pediatrics, The First Affiliated Hospital of Medical College, Zhejiang University, Hangzhou, 310003, Zhejiang province, China. .
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Źródło:
BMC medical genomics [BMC Med Genomics] 2020 Sep 07; Vol. 13 (1), pp. 126. Date of Electronic Publication: 2020 Sep 07.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:
Haploinsufficiency*
Abnormalities, Multiple/*genetics
Abnormalities, Multiple/*pathology
Primary Ovarian Insufficiency/*genetics
Primary Ovarian Insufficiency/*pathology
Adolescent ; Chromosome Deletion ; Chromosomes, Human, Pair 15/genetics ; Female ; Humans ; Phenotype ; Prognosis
SCR Disease Name:
Chromosome 15q, partial deletion
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
KMT2C/D COMPASS complex-associated diseases [K CD COM-ADs]: an emerging class of congenital regulopathies.
Autorzy:
Lavery WJ; Division of Allergy and Immunology, Cincinnati Children's Hospital Medical Center (CCHMC), 3333 Burnet Avenue, Cincinnati, OH, 45229-3026, USA.
Barski A; Division of Allergy and Immunology, Cincinnati Children's Hospital Medical Center (CCHMC), 3333 Burnet Avenue, Cincinnati, OH, 45229-3026, USA.; Division of Human Genetics, CCHMC, Cincinnati, OH, USA.
Wiley S; Division of Developmental and Behavioral Pediatrics, CCHMC, Cincinnati, OH, USA.
Schorry EK; Division of Human Genetics, CCHMC, Cincinnati, OH, USA.
Lindsley AW; Division of Allergy and Immunology, Cincinnati Children's Hospital Medical Center (CCHMC), 3333 Burnet Avenue, Cincinnati, OH, 45229-3026, USA. .
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Źródło:
Clinical epigenetics [Clin Epigenetics] 2020 Jan 10; Vol. 12 (1), pp. 10. Date of Electronic Publication: 2020 Jan 10.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
MeSH Terms:
Abnormalities, Multiple/*genetics
Craniofacial Abnormalities/*genetics
DNA-Binding Proteins/*genetics
Face/*abnormalities
Heart Defects, Congenital/*genetics
Hematologic Diseases/*genetics
Intellectual Disability/*genetics
Neoplasm Proteins/*genetics
Rubinstein-Taybi Syndrome/*genetics
Vestibular Diseases/*genetics
Abnormalities, Multiple/diagnosis ; Chromosome Deletion ; Chromosomes, Human, Pair 9/genetics ; Craniofacial Abnormalities/diagnosis ; DNA-Binding Proteins/metabolism ; Female ; Heart Defects, Congenital/diagnosis ; Hematologic Diseases/diagnosis ; Humans ; Intellectual Disability/diagnosis ; Male ; Neoplasm Proteins/metabolism ; Phenotype ; Rubinstein-Taybi Syndrome/diagnosis ; Vestibular Diseases/diagnosis
SCR Disease Name:
Kabuki syndrome; Kleefstra Syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion).
Autorzy:
Woodfin T; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama.
Stoops C; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama.
Philips JB 3rd; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama.
Lose E; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama.
Mikhail FM; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.
Hurst A; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Aug; Vol. 7 (8), pp. e829. Date of Electronic Publication: 2019 Jun 28.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Abnormalities, Multiple/*genetics
Copper-Transporting ATPases/*genetics
Intellectual Disability/*genetics
Menkes Kinky Hair Syndrome/*genetics
Abnormalities, Multiple/diagnosis ; Chromosome Deletion ; Chromosomes, Human, Pair 17/genetics ; Comparative Genomic Hybridization ; DNA Mutational Analysis ; Fatal Outcome ; Genetic Testing ; Histidine/analogs & derivatives ; Histidine/therapeutic use ; Humans ; Hypertension, Pulmonary/complications ; Hypertension, Pulmonary/genetics ; Hypertension, Pulmonary/therapy ; Infant, Newborn ; Intellectual Disability/complications ; Intellectual Disability/diagnosis ; Male ; Medical History Taking ; Menkes Kinky Hair Syndrome/complications ; Menkes Kinky Hair Syndrome/diagnosis ; Menkes Kinky Hair Syndrome/drug therapy ; Mutation ; Nitric Oxide/therapeutic use ; Organometallic Compounds/therapeutic use ; Pedigree ; Respiratory Insufficiency/genetics
SCR Disease Name:
Chromosome 17q21.31 Deletion Syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Refining the Phenotype of Recurrent Rearrangements of Chromosome 16.
Autorzy:
Redaelli S; School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy. .
Maitz S; Clinical Pediatric Genetics Unit, Pediatrics Clinics, MBBM Foundation, S. Gerardo Hospital, 20900 Monza, Italy. .
Crosti F; Medical Genetics Laboratory, Clinical Pathology Department, S. Gerardo Hospital, 20900 Monza, Italy. .
Sala E; Medical Genetics Laboratory, Clinical Pathology Department, S. Gerardo Hospital, 20900 Monza, Italy. .
Villa N; Medical Genetics Laboratory, Clinical Pathology Department, S. Gerardo Hospital, 20900 Monza, Italy. .
Spaccini L; Clinical Genetics Unit, Department of Obstetrics and Gynecology, V. Buzzi Children's Hospital, University of Milan, 20154 Milan, Italy. .
Selicorni A; Clinical Pediatric Unit, ASST Lariana, 22042 Como, Italy. .
Rigoldi M; Medical Genetics Laboratory, Clinical Pathology Department, S. Gerardo Hospital, 20900 Monza, Italy. .
Conconi D; School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy. .
Dalprà L; School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy. .
Roversi G; School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy. .; Medical Genetics Laboratory, Clinical Pathology Department, S. Gerardo Hospital, 20900 Monza, Italy. .
Bentivegna A; School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy. .; NeuroMI, Milan center of Neuroscience, University of Milano-Bicocca, Dept. of Neurology and Neuroscience, San Gerardo Hospital, 20900 Monza, Italy. .
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2019 Mar 04; Vol. 20 (5). Date of Electronic Publication: 2019 Mar 04.
Typ publikacji:
Journal Article
MeSH Terms:
Comparative Genomic Hybridization*
Abnormalities, Multiple/*genetics
Chromosomes, Human, Pair 16/*genetics
Developmental Disabilities/*genetics
Abnormalities, Multiple/classification ; Abnormalities, Multiple/physiopathology ; Adolescent ; Adult ; Child ; Child, Preschool ; Chromosome Aberrations ; Chromosome Deletion ; DNA Copy Number Variations/genetics ; Developmental Disabilities/classification ; Developmental Disabilities/physiopathology ; Female ; Homologous Recombination/genetics ; Humans ; Infant ; Infant, Newborn ; Karyotype ; Male ; Phenotype ; Segmental Duplications, Genomic/genetics ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
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