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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:
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
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
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
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A novel 11 base pair deletion in KMT2C resulting in Kleefstra syndrome 2.
Autorzy:
Whitford W; School of Biological Sciences, The University of Auckland, Auckland, New Zealand.; Centre for Brain Research, The University of Auckland, Auckland, New Zealand.
Taylor J; Genetic Health Service NZ, Te Whatu Ora, Auckland, New Zealand.
Hayes I; Genetic Health Service NZ, Te Whatu Ora, Auckland, New Zealand.
Smith W; Kidz First Child Development Service, Te Whatu Ora, Auckland, New Zealand.
Snell RG; School of Biological Sciences, The University of Auckland, Auckland, New Zealand.; Centre for Brain Research, The University of Auckland, Auckland, New Zealand.
Lehnert K; School of Biological Sciences, The University of Auckland, Auckland, New Zealand.; Centre for Brain Research, The University of Auckland, Auckland, New Zealand.
Jacobsen JC; School of Biological Sciences, The University of Auckland, Auckland, New Zealand.; Centre for Brain Research, The University of Auckland, Auckland, New Zealand.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2350. Date of Electronic Publication: 2023 Dec 26.
Typ publikacji:
Journal Article
MeSH Terms:
Chromosome Deletion*
Craniofacial Abnormalities*
Heart Defects, Congenital*
Histones*/genetics
Intellectual Disability*/genetics
Female ; Humans ; Male ; Base Pairing ; Chromatin ; Chromosomes, Human, Pair 9
SCR Disease Name:
Kleefstra Syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Diversity of Clinical and Molecular Characteristics in Korean Patients with 16p11.2 Microdeletion Syndrome.
Autorzy:
Han JY; Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul 06591, Republic of Korea.
Cho YG; Department of Laboratory Medicine, Jeonbuk National University Medical School and Hospital, Jeonju 54907, Republic of Korea.; Research Institute of Clinical Medicine of Jeonbuk National University-Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju 54907, Republic of Korea.
Jo DS; Research Institute of Clinical Medicine of Jeonbuk National University-Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju 54907, Republic of Korea.; Department of Pediatrics, Jeonbuk National University Medical School and Hospital, Jeonju 54907, Republic of Korea.
Park J; Department of Laboratory Medicine, Jeonbuk National University Medical School and Hospital, Jeonju 54907, Republic of Korea.; Research Institute of Clinical Medicine of Jeonbuk National University-Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju 54907, Republic of Korea.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Dec 23; Vol. 25 (1). Date of Electronic Publication: 2023 Dec 23.
Typ publikacji:
Journal Article
MeSH Terms:
DNA Copy Number Variations*
Chromosome Deletion*
Chromosomes, Human, Pair 16*/genetics
Genetic Diseases, Inborn*
Humans ; Infant ; Infant, Newborn ; Republic of Korea ; Phenotype ; Developmental Disabilities/genetics ; Intellectual Disability/genetics ; East Asian People
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Prenatal diagnosis of 18p deletion and 8p trisomy syndrome: literature review and report of a novel case.
Autorzy:
Papamichail M; Postgraduate Programme 'Maternal Fetal Medicine' Medical School, National & Kapodistrian University of Athens, Athens, Greece.
Eleftheriades A; Department of Obstetrics and Gynaecology, Women' Hospital, University Hospital of Basel, University of Basel, Basel, Switzerland. .
Manolakos E; Clinical Laboratory Genetics, Access To Genome (ATG), Athens-Thessaloniki-Greece, Athens, Greece.
Papamichail A; Department of Pediatriacs, General Hospital of Larnaka, Larnaka, Cyprus.
Christopoulos P; 2nd Department of Obstetrics and Gynecology, Medical School, Aretaieio University Hospital, National & Kapodistrian University of Athens, Athens, Greece.
Manegold-Brauer G; Department of Gynaecological Ultrasound and Prenatal Diagnostics, Women' Hospital, University Hospital of Basel, University of Basel, Basel, Switzerland.
Eleftheriades M; 2nd Department of Obstetrics and Gynecology, Medical School, Aretaieio University Hospital, National & Kapodistrian University of Athens, Athens, Greece.
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Źródło:
BMC women's health [BMC Womens Health] 2024 Apr 15; Vol. 24 (1), pp. 241. Date of Electronic Publication: 2024 Apr 15.
Typ publikacji:
Journal Article
MeSH Terms:
Trisomy*/diagnosis
Trisomy*/genetics
Chromosome Disorders*/diagnosis
Chromosome Disorders*/genetics
Pregnancy ; Female ; Humans ; Prenatal Diagnosis ; Chromosome Deletion ; Chromosomes, Human, Pair 8
SCR Disease Name:
Chromosome 8, trisomy 8p
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Caregiver perspectives on patient-focused drug development for Phelan-McDermid syndrome.
Autorzy:
Gizzo L; University of New England College of Osteopathic Medicine, Biddeford, ME, USA.
Bliss G; CureSHANK, Beverly Hills, CA, USA.
Palaty C; Metaphase Health Research Consulting Inc., Vancouver, Canada.
Kolevzon A; Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1230, New York, NY, 10029, USA. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Mar 26; Vol. 19 (1), pp. 134. Date of Electronic Publication: 2024 Mar 26.
Typ publikacji:
Journal Article
MeSH Terms:
Caregivers*
Chromosome Disorders*/genetics
Humans ; Quality of Life ; Chromosome Deletion ; Chromosomes, Human, Pair 22
SCR Disease Name:
Telomeric 22q13 Monosomy Syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A nematode model to evaluate microdeletion phenotype expression.
Autorzy:
Antkowiak KR; Department of Biochemistry and Molecular Biotechnology, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA.
Coskun P; Department of Biochemistry and Molecular Biotechnology, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA.
Noronha ST; Department of Biochemistry and Molecular Biotechnology, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA.
Tavella D; Department of Biochemistry and Molecular Biotechnology, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA.
Massi F; Department of Biochemistry and Molecular Biotechnology, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA.
Ryder SP; Department of Biochemistry and Molecular Biotechnology, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA.
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Źródło:
G3 (Bethesda, Md.) [G3 (Bethesda)] 2024 Feb 07; Vol. 14 (2).
Typ publikacji:
Journal Article
MeSH Terms:
Gene Editing*
Caenorhabditis elegans*/genetics
Animals ; Female ; Phenotype ; Mutation ; Chromosome Deletion
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Clinical details of individuals with Rauch-Steindl syndrome due to NSD2 truncating variants.
Autorzy:
Nishi E; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
Yanagi K; Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.
Kaname T; Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.
Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Feb; Vol. 12 (2), pp. e2396.
Typ publikacji:
Journal Article
MeSH Terms:
Cleft Lip*/genetics
Cleft Palate*/genetics
Wolf-Hirschhorn Syndrome*/genetics
Wolf-Hirschhorn Syndrome*/pathology
Humans ; Chromosome Deletion ; Failure to Thrive/genetics ; Seizures/genetics
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:
A Fetus with 17q23.1-q23.2 Microdeletion Presents with Primary Bilateral Lung Hypoplasia in Utero.
Autorzy:
Yao L; Department of Ultrasound Diagnosis, The Second Xiangya Hospital, Central South University, Changsha, China.
Xu Y; Department of Ultrasound Diagnosis, The Second Xiangya Hospital, Central South University, Changsha, China.
Deng Y; Department of Ultrasound Diagnosis, The Second Xiangya Hospital, Central South University, Changsha, China.
Zeng S; Department of Ultrasound Diagnosis, The Second Xiangya Hospital, Central South University, Changsha, China.
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Źródło:
Fetal and pediatric pathology [Fetal Pediatr Pathol] 2023 Feb; Vol. 42 (1), pp. 144-148. Date of Electronic Publication: 2022 May 03.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Chromosome Deletion*
Microcephaly*
Humans ; Syndrome ; Fetus ; Lung
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Chromosomal Duplication Syndromes: A Case Series.
Autorzy:
Panigrahi I; Department of Pediatrics, Genetic-Metabolic Unit, APC, PGIMER, Chandigarh, India.
Shariq M
Bamba C
Kaur R
Bhatt Y
Srivastava P
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Źródło:
Neurology India [Neurol India] 2024 Jan 01; Vol. 72 (1), pp. 124-128. Date of Electronic Publication: 2024 Feb 29.
Typ publikacji:
Journal Article
MeSH Terms:
Microcephaly*/genetics
Intellectual Disability*/genetics
Child ; Humans ; Chromosome Duplication/genetics ; Research ; Chromosome Deletion ; Syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Complex Chromosomal Rearrangement Involving Chromosomes 10 and 11, Accompanied by Two Adjacent 11p14.1p13 and 11p13p12 Deletions, Identified in a Patient with WAGR Syndrome.
Autorzy:
Marakhonov AV; Research Centre for Medical Genetics, Moscow 115522, Russia.
Vasilyeva TA; Research Centre for Medical Genetics, Moscow 115522, Russia.
Minzhenkova ME; Research Centre for Medical Genetics, Moscow 115522, Russia.
Sukhanova NV; Research Centre for Medical Genetics, Moscow 115522, Russia.
Sparber PA; Research Centre for Medical Genetics, Moscow 115522, Russia.
Andreeva NA; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow 117997, Russia.
Teleshova MV; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow 117997, Russia.
Baybagisova FK; Medical Center 'Evromed', Cherkessk 369000, Russia.
Shilova NV; Research Centre for Medical Genetics, Moscow 115522, Russia.
Kutsev SI; Research Centre for Medical Genetics, Moscow 115522, Russia.
Zinchenko RA; Research Centre for Medical Genetics, Moscow 115522, Russia.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Nov 29; Vol. 24 (23). Date of Electronic Publication: 2023 Nov 29.
Typ publikacji:
Journal Article
MeSH Terms:
WAGR Syndrome*/diagnosis
WAGR Syndrome*/genetics
WAGR Syndrome*/pathology
Aniridia*/diagnosis
Aniridia*/genetics
Wilms Tumor*/genetics
Kidney Neoplasms*/genetics
Male ; Humans ; Infant ; Chromosome Deletion ; Chromosomes, Human, Pair 11/genetics ; Chromosome Inversion
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
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
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Unusual Trisomy X Phenotype Associated with a Concurrent Heterozygous 16p11.2 Deletion: Importance of an Integral Approach for Proper Diagnosis.
Autorzy:
González-Del Angel A; Laboratorio de Biología Molecular, Subdirección de Investigación Médica, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City CP 04530, Mexico.; Facultad Mexicana de Medicina, Universidad la Salle, Mexico City CP 14070, Mexico.
Alcántara-Ortigoza MA; Laboratorio de Biología Molecular, Subdirección de Investigación Médica, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City CP 04530, Mexico.
Ramos S; Laboratorio de Citogenética, Subdirección de Investigación Médica, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City CP 04530, Mexico.
Algara-Ramírez C; Facultad Mexicana de Medicina, Universidad la Salle, Mexico City CP 14070, Mexico.
Hernández-Hernández MA; Facultad Mexicana de Medicina, Universidad la Salle, Mexico City CP 14070, Mexico.
Saenger-Rivas L; Facultad Mexicana de Medicina, Universidad la Salle, Mexico City CP 14070, Mexico.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Sep 27; Vol. 24 (19). Date of Electronic Publication: 2023 Sep 27.
Typ publikacji:
Case Reports
MeSH Terms:
Sex Chromosome Aberrations*
Trisomy*/diagnosis
Trisomy*/genetics
Humans ; Female ; Chromosome Deletion ; Phenotype ; Karyotype
SCR Disease Name:
Triple X syndrome
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Hematopoietic loss of Y chromosome leads to cardiac fibrosis and heart failure mortality.
Autorzy:
Sano S; Hematovascular Biology Center, Robert M. Berne Cardiovascular Research Center, University of Virginia School of Medicine, Charlottesville, VA 22908, USA.; Department of Cardiovascular Medicine, Osaka Metropolitan University Graduate School of Medicine, Osaka 545-8585, Japan.
Horitani K; Hematovascular Biology Center, Robert M. Berne Cardiovascular Research Center, University of Virginia School of Medicine, Charlottesville, VA 22908, USA.
Ogawa H; Hematovascular Biology Center, Robert M. Berne Cardiovascular Research Center, University of Virginia School of Medicine, Charlottesville, VA 22908, USA.
Halvardson J; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, 75108 Uppsala, Sweden.
Chavkin NW; Hematovascular Biology Center, Robert M. Berne Cardiovascular Research Center, University of Virginia School of Medicine, Charlottesville, VA 22908, USA.; Department of Cell Biology, University of Virginia School of Medicine, Charlottesville, VA 22908, USA.
Wang Y; Hematovascular Biology Center, Robert M. Berne Cardiovascular Research Center, University of Virginia School of Medicine, Charlottesville, VA 22908, USA.
Sano M; Hematovascular Biology Center, Robert M. Berne Cardiovascular Research Center, University of Virginia School of Medicine, Charlottesville, VA 22908, USA.
Mattisson J; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, 75108 Uppsala, Sweden.
Hata A; Chiba University Graduate School of Medicine, Department of General Thoracic Surgery, Chiba 260-8670, Japan.
Danielsson M; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, 75108 Uppsala, Sweden.
Miura-Yura E; Hematovascular Biology Center, Robert M. Berne Cardiovascular Research Center, University of Virginia School of Medicine, Charlottesville, VA 22908, USA.
Zaghlool A; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, 75108 Uppsala, Sweden.
Evans MA; Hematovascular Biology Center, Robert M. Berne Cardiovascular Research Center, University of Virginia School of Medicine, Charlottesville, VA 22908, USA.
Fall T; Department of Medical Sciences, Molecular Epidemiology and Science for Life Laboratory, Uppsala University, 75185 Uppsala, Sweden.
De Hoyos HN; Hematovascular Biology Center, Robert M. Berne Cardiovascular Research Center, University of Virginia School of Medicine, Charlottesville, VA 22908, USA.
Sundström J; Department of Medical Sciences, Uppsala University, Sweden, and Uppsala Clinical Research Center, 78185 Uppsala, Sweden.
Yura Y; Hematovascular Biology Center, Robert M. Berne Cardiovascular Research Center, University of Virginia School of Medicine, Charlottesville, VA 22908, USA.
Kour A; Hematovascular Biology Center, Robert M. Berne Cardiovascular Research Center, University of Virginia School of Medicine, Charlottesville, VA 22908, USA.
Arai Y; Hematovascular Biology Center, Robert M. Berne Cardiovascular Research Center, University of Virginia School of Medicine, Charlottesville, VA 22908, USA.
Thel MC; Hematovascular Biology Center, Robert M. Berne Cardiovascular Research Center, University of Virginia School of Medicine, Charlottesville, VA 22908, USA.
Arai Y; Hematovascular Biology Center, Robert M. Berne Cardiovascular Research Center, University of Virginia School of Medicine, Charlottesville, VA 22908, USA.
Mychaleckyj JC; Center for Public Health Genomics, University of Virginia, Charlottesville, VA 22908, USA.
Hirschi KK; Department of Cell Biology, University of Virginia School of Medicine, Charlottesville, VA 22908, USA.
Forsberg LA; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, 75108 Uppsala, Sweden.; The Beijer Laboratory, Uppsala University, 75185 Uppsala, Sweden.
Walsh K; Hematovascular Biology Center, Robert M. Berne Cardiovascular Research Center, University of Virginia School of Medicine, Charlottesville, VA 22908, USA.
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Źródło:
Science (New York, N.Y.) [Science] 2022 Jul 15; Vol. 377 (6603), pp. 292-297. Date of Electronic Publication: 2022 Jul 14.
Typ publikacji:
Journal Article
MeSH Terms:
Aging*/genetics
Chromosome Deletion*
Heart Failure*/genetics
Heart Failure*/therapy
Hematopoietic Stem Cells*
Myocardium*/pathology
Y Chromosome*/genetics
Animals ; Antibodies, Neutralizing/pharmacology ; Antibodies, Neutralizing/therapeutic use ; Fibrosis ; Macrophages ; Male ; Mice ; Mosaicism ; Transforming Growth Factor beta/antagonists & inhibitors
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Mosaic loss of Y chromosome during aging.
Autorzy:
Zeiher A; Institute of Cardiovascular Regeneration, Goethe University, Frankfurt, Germany.; German Center for Cardiovascular Research DZHK, Partner Site Rhine-Main, Berlin, Germany.
Braun T; German Center for Cardiovascular Research DZHK, Partner Site Rhine-Main, Berlin, Germany.; Max Planck Institute for Heart and Lung Research, Department of Cardiac Development and Remodeling, Bad Nauheim, Germany.
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Źródło:
Science (New York, N.Y.) [Science] 2022 Jul 15; Vol. 377 (6603), pp. 266-267. Date of Electronic Publication: 2022 Jul 14.
Typ publikacji:
Journal Article; Comment
MeSH Terms:
Aging*/genetics
Chromosome Deletion*
Chromosomes, Human, Y*/genetics
Heart Diseases*/genetics
Mosaicism*
Myocardium*/pathology
Aneuploidy ; Fibrosis ; Humans ; Male
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Chromosome 1p36 candidate gene ZNF436 predicts the prognosis of neuroblastoma: a bioinformatic analysis.
Autorzy:
Wang H; Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian, China. .
Wang X; Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian, China.
Xu L; Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian, China.
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Źródło:
Italian journal of pediatrics [Ital J Pediatr] 2023 Oct 31; Vol. 49 (1), pp. 145. Date of Electronic Publication: 2023 Oct 31.
Typ publikacji:
Journal Article
MeSH Terms:
Neuroblastoma*/genetics
Humans ; Infant ; Adolescent ; N-Myc Proto-Oncogene Protein/genetics ; Prognosis ; Chromosome Aberrations ; Chromosomes ; Chromosomes, Human, Pair 1/genetics ; Chromosome Deletion ; Transcription Factors/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Structural Connectivity and Emotion Recognition Impairment in Children and Adolescents with Chromosome 22q11.2 Deletion Syndrome.
Autorzy:
Sanders AFP; Department of Psychology, University of New Orleans, 2000 Lakeshore Drive, New Orleans, LA, 70148, USA.; Department of Psychiatry, Washington University School of Medicine in St. Louis, St. Louis, MO, USA.
Hobbs DA; Department of Psychology, University of New Orleans, 2000 Lakeshore Drive, New Orleans, LA, 70148, USA.; Department of Radiology, Washington University School of Medicine in St. Louis, St. Louis, MO, USA.
Knaus TA; Department of Psychology, University of New Orleans, 2000 Lakeshore Drive, New Orleans, LA, 70148, USA.
Beaton EA; Department of Psychology, University of New Orleans, 2000 Lakeshore Drive, New Orleans, LA, 70148, USA. .
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Źródło:
Journal of autism and developmental disorders [J Autism Dev Disord] 2023 Oct; Vol. 53 (10), pp. 4021-4034. Date of Electronic Publication: 2022 Aug 02.
Typ publikacji:
Journal Article
MeSH Terms:
DiGeorge Syndrome*/diagnostic imaging
DiGeorge Syndrome*/genetics
Autism Spectrum Disorder*/genetics
White Matter*
Humans ; Adolescent ; Child ; Emotions ; Chromosomes ; Chromosome Deletion
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
An Endocrinological Perspective on 22q11.2 Deletion Syndrome: A Single-center Experience
Autorzy:
Denkboy Öngen Y; Bursa Uludağ University Faculty of Medicine, Department of Pediatric Endocrinology, Bursa, Turkey
Özemri Sağ Ş; Bursa Uludağ University Faculty of Medicine, Department of Medical Genetics, Bursa, Turkey
Temel ŞG; Bursa Uludağ University Faculty of Medicine, Department of Medical Genetics, Bursa, Turkey
Eren E; Bursa Uludağ University Faculty of Medicine, Department of Pediatric Endocrinology, Bursa, Turkey
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Źródło:
Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2023 Aug 23; Vol. 15 (3), pp. 285-292. Date of Electronic Publication: 2023 Apr 19.
Typ publikacji:
Journal Article
MeSH Terms:
DiGeorge Syndrome*/complications
DiGeorge Syndrome*/diagnosis
DiGeorge Syndrome*/genetics
Hypocalcemia*/diagnosis
Hypocalcemia*/genetics
Diabetes Mellitus, Type 2*/genetics
Hypoparathyroidism*/diagnosis
Hypoparathyroidism*/complications
Dwarfism*/genetics
Humans ; Calcium ; In Situ Hybridization, Fluorescence ; Parathyroid Hormone ; Chromosome Deletion ; Phosphorus
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Wyświetlanie 1-20 z 2469

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