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Wyszukujesz frazę ""Chromosomes, Human, Pair 1"" wg kryterium: Temat


Tytuł :
Coding and Noncoding Variants in CFH Act Synergistically for Complement Activation in Immunoglobulin A Nephropathy.
Autorzy :
Guo WY; Department of Medicine, Peking University First Hospital, Beijing, China; Peking University Institute of Nephrology, Beijing, China; Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, China; Key Laboratory of Chronic Kidney Disease Prevention and Treatment (Peking University), Ministry of Education, Beijing, China.
Liu QZ; Department of Medicine, Peking University First Hospital, Beijing, China; Peking University Institute of Nephrology, Beijing, China; Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, China; Key Laboratory of Chronic Kidney Disease Prevention and Treatment (Peking University), Ministry of Education, Beijing, China; Department of Medicine, The Second Hospital of Shandong University, Jinan, Shandong Province, China.
Zhu L; Department of Medicine, Peking University First Hospital, Beijing, China; Peking University Institute of Nephrology, Beijing, China; Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, China; Key Laboratory of Chronic Kidney Disease Prevention and Treatment (Peking University), Ministry of Education, Beijing, China. Electronic address: .
Li ZY; Department of Nephrology, The First Affiliated Hospital of Baotou Medical College, Baotou, Inner Mongolia Province, China.
Meng SJ; Department of Medicine, Peking University First Hospital, Beijing, China; Peking University Institute of Nephrology, Beijing, China; Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, China; Key Laboratory of Chronic Kidney Disease Prevention and Treatment (Peking University), Ministry of Education, Beijing, China.
Shi SF; Department of Medicine, Peking University First Hospital, Beijing, China; Peking University Institute of Nephrology, Beijing, China; Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, China; Key Laboratory of Chronic Kidney Disease Prevention and Treatment (Peking University), Ministry of Education, Beijing, China.
Liu LJ; Department of Medicine, Peking University First Hospital, Beijing, China; Peking University Institute of Nephrology, Beijing, China; Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, China; Key Laboratory of Chronic Kidney Disease Prevention and Treatment (Peking University), Ministry of Education, Beijing, China.
Lv JC; Department of Medicine, Peking University First Hospital, Beijing, China; Peking University Institute of Nephrology, Beijing, China; Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, China; Key Laboratory of Chronic Kidney Disease Prevention and Treatment (Peking University), Ministry of Education, Beijing, China.
Hou P; Department of Medicine, Peking University First Hospital, Beijing, China; Peking University Institute of Nephrology, Beijing, China; Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, China; Key Laboratory of Chronic Kidney Disease Prevention and Treatment (Peking University), Ministry of Education, Beijing, China.
Zhang H; Department of Medicine, Peking University First Hospital, Beijing, China; Peking University Institute of Nephrology, Beijing, China; Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, China; Key Laboratory of Chronic Kidney Disease Prevention and Treatment (Peking University), Ministry of Education, Beijing, China.
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Źródło :
The American journal of the medical sciences [Am J Med Sci] 2018 Aug; Vol. 356 (2), pp. 114-120. Date of Electronic Publication: 2018 Apr 11.
Typ publikacji :
Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Loci*
Genotype*
Polymorphism, Genetic*
Chromosomes, Human, Pair 1/*genetics
Glomerulonephritis, IGA/*genetics
Adult ; Chromosomes, Human, Pair 1/metabolism ; Complement Activation/genetics ; Complement C3/genetics ; Complement C3/metabolism ; Complement Factor H/genetics ; Complement Factor H/metabolism ; Female ; Genome-Wide Association Study ; Glomerulonephritis, IGA/metabolism ; Glomerulonephritis, IGA/pathology ; Humans ; Male
Czasopismo naukowe
Tytuł :
Single-cell exomes in an index case of amp1q21 multiple myeloma reveal more diverse mutanomes than the whole population.
Autorzy :
Bryant D; Tumour Immunogenetics Group, Cancer Sciences Academic Unit, and.
Tapper W; Human Development and Health Academic Unit, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.
Weston-Bell NJ; Tumour Immunogenetics Group, Cancer Sciences Academic Unit, and.
Bolomsky A; Department of Medicine I, Wilhelminen Cancer Research Institute, Wilhelminen Hospital, Vienna, Austria; and.
Song L; BGI Genomics, BGI-Shenzhen, Shenzhen, China.
Xu S; BGI Genomics, BGI-Shenzhen, Shenzhen, China.
Collins AR; Human Development and Health Academic Unit, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.
Zojer N; Department of Medicine I, Wilhelminen Cancer Research Institute, Wilhelminen Hospital, Vienna, Austria; and.
Sahota SS; Tumour Immunogenetics Group, Cancer Sciences Academic Unit, and.
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Źródło :
Blood [Blood] 2018 Jul 12; Vol. 132 (2), pp. 232-235. Date of Electronic Publication: 2018 May 18.
Typ publikacji :
Letter; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosomes, Human, Pair 1*
Exome*
Genetics, Population*
Mutation*
Single-Cell Analysis*/methods
Multiple Myeloma/*genetics
Genetic Variation ; Humans ; Whole Exome Sequencing
Raport
Tytuł :
Genome-scale analysis identifies paralog lethality as a vulnerability of chromosome 1p loss in cancer.
Autorzy :
Viswanathan SR; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.
Nogueira MF; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Buss CG; Harvard-MIT Department of Health Sciences and Technology, Institute for Medical Engineering and Science, Massachusetts Institute of Technology, Boston, MA, USA.; Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, Cambridge, MA, USA.
Krill-Burger JM; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Wawer MJ; Chemical Biology and Therapeutics Science Program, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Malolepsza E; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Surgery, Massachusetts General Hospital, Boston, MA, USA.
Berger AC; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Choi PS; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.
Shih J; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Taylor AM; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.
Tanenbaum B; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Pedamallu CS; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
Cherniack AD; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Tamayo P; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; UCSD Moores Cancer Center and Department of Medicine, University of California, San Diego, La Jolla, CA, USA.
Strathdee CA; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Lage K; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Surgery, Massachusetts General Hospital, Boston, MA, USA.
Carr SA; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Schenone M; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Bhatia SN; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Harvard-MIT Department of Health Sciences and Technology, Institute for Medical Engineering and Science, Massachusetts Institute of Technology, Boston, MA, USA.; Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, Cambridge, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA.; Department of Electrical Engineering and Computer Science, Massachusetts Institute of Technology, Cambridge, MA, USA.; Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Vazquez F; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Tsherniak A; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Hahn WC; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.
Meyerson M; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA. .; Broad Institute of MIT and Harvard, Cambridge, MA, USA. .; Harvard Medical School, Boston, MA, USA. .
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Źródło :
Nature genetics [Nat Genet] 2018 Jul; Vol. 50 (7), pp. 937-943. Date of Electronic Publication: 2018 Jun 28.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosomes, Human, Pair 1*
Neoplasms/*genetics
Animals ; Cell Line, Tumor ; Cell Nucleus/genetics ; Exons/genetics ; Female ; Gene Deletion ; HEK293 Cells ; Humans ; Karyopherins/genetics ; Mice ; Mice, Nude ; Nuclear Proteins/genetics ; RNA Splicing/genetics ; RNA, Small Interfering/genetics
Czasopismo naukowe
Tytuł :
Gastric carcinoma subsequent to myelodysplastic syndrome with t (1; 19) chromosome translocation: A rare case report and its potential mechanisms.
Autorzy :
Yu W; Cancer Center, the First Hospital of Jilin Unversity, Jilin Department of Hematology, Yantai Affiliated Hospital of Binzhou Medical University, Yantai Research Center ,the Second Hospital of Jilin UniversityJilin Cardiovascular Surgery Department, the First Hospital of Jilin Unversity, Jilin, People's Republic of China.
Chen G
Sun Y
Gao S
Li W
Cui J
Sun J
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Źródło :
Medicine [Medicine (Baltimore)] 2018 Jul; Vol. 97 (30), pp. e11535.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Anemia, Refractory*/diagnosis
Anemia, Refractory*/drug therapy
Anemia, Refractory*/etiology
Carcinoma*/complications
Carcinoma*/pathology
Carcinoma*/physiopathology
Carcinoma*/surgery
Chromosomes, Human, Pair 1*
Chromosomes, Human, Pair 19*
Myelodysplastic Syndromes*/complications
Myelodysplastic Syndromes*/diagnosis
Myelodysplastic Syndromes*/genetics
Myelodysplastic Syndromes*/physiopathology
Stomach Neoplasms*/complications
Stomach Neoplasms*/pathology
Stomach Neoplasms*/physiopathology
Stomach Neoplasms*/surgery
Erythropoietin/*administration & dosage
Gastrectomy/*methods
Translocation, Genetic/*genetics
Bone Marrow/diagnostic imaging ; Bone Marrow/pathology ; Cytogenetic Analysis/methods ; Hematinics/administration & dosage ; Humans ; Male ; Middle Aged ; Treatment Outcome
Czasopismo naukowe
Tytuł :
Diffuse gliomas classified by 1p/19q co-deletion, TERT promoter and IDH mutation status are associated with specific genetic risk loci.
Autorzy :
Labreche K; Sorbonne Universités UPMC Univ Paris 06, INSERM CNRS, U1127, UMR 7225, ICM, 75013, Paris, France.; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, Surrey, SM2 5NG, UK.
Kinnersley B; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, Surrey, SM2 5NG, UK.
Berzero G; Sorbonne Universités UPMC Univ Paris 06, INSERM CNRS, U1127, UMR 7225, ICM, 75013, Paris, France.; Service de neurologie 2-Mazarin, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.; University of Pavia and C. Mondino National Institute of Neurology, Pavia, Italy.
Di Stefano AL; Sorbonne Universités UPMC Univ Paris 06, INSERM CNRS, U1127, UMR 7225, ICM, 75013, Paris, France.; Service de neurologie 2-Mazarin, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Rahimian A; Sorbonne Universités UPMC Univ Paris 06, INSERM CNRS, U1127, UMR 7225, ICM, 75013, Paris, France.
Detrait I; Sorbonne Universités UPMC Univ Paris 06, INSERM CNRS, U1127, UMR 7225, ICM, 75013, Paris, France.
Marie Y; Sorbonne Universités UPMC Univ Paris 06, INSERM CNRS, U1127, UMR 7225, ICM, 75013, Paris, France.
Grenier-Boley B; Univ. Lille, Inserm, Institut Pasteur de Lille, U1167-RID-AGE-Risk Factors and Molecular Determinants of Aging-Related Diseases, 59000, Lille, France.
Hoang-Xuan K; Sorbonne Universités UPMC Univ Paris 06, INSERM CNRS, U1127, UMR 7225, ICM, 75013, Paris, France.; Service de neurologie 2-Mazarin, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Delattre JY; Sorbonne Universités UPMC Univ Paris 06, INSERM CNRS, U1127, UMR 7225, ICM, 75013, Paris, France.; Service de neurologie 2-Mazarin, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Idbaih A; Sorbonne Universités UPMC Univ Paris 06, INSERM CNRS, U1127, UMR 7225, ICM, 75013, Paris, France.; Service de neurologie 2-Mazarin, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Houlston RS; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, Surrey, SM2 5NG, UK. .
Sanson M; Sorbonne Universités UPMC Univ Paris 06, INSERM CNRS, U1127, UMR 7225, ICM, 75013, Paris, France.; Service de neurologie 2-Mazarin, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
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Źródło :
Acta neuropathologica [Acta Neuropathol] 2018 May; Vol. 135 (5), pp. 743-755. Date of Electronic Publication: 2018 Feb 19.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosomes, Human, Pair 1*
Chromosomes, Human, Pair 19*
Brain Neoplasms/*genetics
Glioma/*genetics
Isocitrate Dehydrogenase/*genetics
Telomerase/*genetics
Brain Neoplasms/metabolism ; Case-Control Studies ; European Continental Ancestry Group/genetics ; Genetic Association Studies ; Genetic Loci ; Genetic Predisposition to Disease ; Glioma/metabolism ; Humans ; Mutation ; Polymorphism, Single Nucleotide ; Preliminary Data ; Promoter Regions, Genetic ; Proto-Oncogene Proteins c-myc/genetics ; RNA, Messenger/metabolism ; Stathmin/genetics
Czasopismo naukowe
Tytuł :
Relation of locus 1p13 rs646776 polymorphism with the risk of preeclampsia.
Autorzy :
Emam RH; a Faculty of Pharmacy, Department of Biochmistry , Suez Canal University , Ismailia , Egypt.
Ghattas MH; b Faculty of Medicine, Department of Medical Biochemistry , Port Said University , Port Said , Egypt.
Mesbah NM; a Faculty of Pharmacy, Department of Biochmistry , Suez Canal University , Ismailia , Egypt.
Abo-Elmatty DM; a Faculty of Pharmacy, Department of Biochmistry , Suez Canal University , Ismailia , Egypt.
Mehanna ET; a Faculty of Pharmacy, Department of Biochmistry , Suez Canal University , Ismailia , Egypt.
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Źródło :
Hypertension in pregnancy [Hypertens Pregnancy] 2018 May; Vol. 37 (2), pp. 81-86. Date of Electronic Publication: 2018 Mar 25.
Typ publikacji :
Journal Article
MeSH Terms :
Alleles*
Chromosomes, Human, Pair 1*
Genetic Loci*
Genetic Predisposition to Disease*
Pre-Eclampsia/*genetics
Adult ; Female ; Gene Frequency ; Genotype ; Humans ; Polymorphism, Genetic ; Pregnancy ; Young Adult
Czasopismo naukowe
Tytuł :
Familial Infertility (Azoospermia and Cryptozoospermia) in Two Brothers-Carriers of t(1;7) Complex Chromosomal Rearrangement (CCR):  Molecular Cytogenetic Analysis.
Autorzy :
Olszewska M; Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, 60-479 Poznan, Poland.
Stokowy T; Department of Clinical Science, University of Bergen, Postboks 7804, 5020 Bergen, Norway.
Pollock N; Department of OBGYN and Reproductive Science, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, PA 15213, USA.
Huleyuk N; Institute of Hereditary Pathology, Ukrainian Academy of Medical Sciences, Lysenko Str. 31a, 79000 Lviv, Ukraine.
Georgiadis A; Department of OBGYN and Reproductive Science, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, PA 15213, USA.
Yatsenko S; Department of OBGYN and Reproductive Science, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, PA 15213, USA.
Zastavna D; Institute of Hereditary Pathology, Ukrainian Academy of Medical Sciences, Lysenko Str. 31a, 79000 Lviv, Ukraine.; Department of Biotechnology and Bioinformatics, Faculty of Chemistry, Rzeszow University of Technology, Al. Powst. Warszawy 6, 35-959 Rzeszow, Poland.
Yatsenko AN; Department of OBGYN and Reproductive Science, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, PA 15213, USA.
Kurpisz M; Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, 60-479 Poznan, Poland.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2020 Jun 26; Vol. 21 (12). Date of Electronic Publication: 2020 Jun 26.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Gene Rearrangement*
Translocation, Genetic*
Azoospermia/*genetics
Chromosomes, Human, Pair 1/*genetics
Chromosomes, Human, Pair 7/*genetics
Oligospermia/*genetics
Adult ; Azoospermia/pathology ; Comparative Genomic Hybridization ; Female ; Humans ; Karyotyping ; Male ; Middle Aged ; Oligospermia/pathology ; Pedigree
Czasopismo naukowe
Tytuł :
CREBBP and STAT6 co-mutation and 16p13 and 1p36 loss define the t(14;18)-negative diffuse variant of follicular lymphoma.
Autorzy :
Xian RR; Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, MD, USA.; Department of Oncology, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins Medical Institutions, Baltimore, MD, USA.; Pathology and Lab Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
Xie Y; Laboratory of Pathology, National Cancer Institute, Bethesda, MD, USA.; Department of Pathology and Laboratory Medicine, University of California, San Francisco, San Francisco, CA, USA.
Haley LM; Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, MD, USA.
Yonescu R; Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, MD, USA.
Pallavajjala A; Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, MD, USA.
Pittaluga S; Laboratory of Pathology, National Cancer Institute, Bethesda, MD, USA.
Jaffe ES; Laboratory of Pathology, National Cancer Institute, Bethesda, MD, USA.
Duffield AS; Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, MD, USA.; Department of Oncology, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins Medical Institutions, Baltimore, MD, USA.
McCall CM; Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, MD, USA.; Department of Pathology, Duke University School of Medicine, Durham, NC, USA.
Gheith SMF; Pathology and Laboratory Medicine, Lehigh Valley Health Network, Allentown, PA, USA.
Gocke CD; Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, MD, USA. .; Department of Oncology, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins Medical Institutions, Baltimore, MD, USA. .
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Źródło :
Blood cancer journal [Blood Cancer J] 2020 Jun 17; Vol. 10 (6), pp. 69. Date of Electronic Publication: 2020 Jun 17.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural
MeSH Terms :
CREB-Binding Protein/*genetics
Lymphoma, Follicular/*genetics
STAT6 Transcription Factor/*genetics
Adult ; Aged ; Chromosome Deletion ; Chromosomes, Human, Pair 1 ; Chromosomes, Human, Pair 16 ; Female ; Humans ; Lymphoma, Follicular/pathology ; Male ; Middle Aged ; Mutation ; Polymorphism, Single Nucleotide ; Translocation, Genetic
Czasopismo naukowe
Tytuł :
Xia-Gibbs Syndrome: A Psychiatric Perspective.
Autorzy :
Orji CS; Mental Health Intellectual Disability Team - Linn Dara Child and Adolescent Mental Health services.
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Źródło :
Irish medical journal [Ir Med J] 2020 Jun 11; Vol. 113 (6), pp. 107. Date of Electronic Publication: 2020 Jun 11.
Typ publikacji :
Case Reports; Letter
MeSH Terms :
Child Psychiatry*
Nervous System Diseases*/genetics
Nervous System Diseases*/psychology
Attention Deficit Disorder with Hyperactivity ; Child ; Chromosomes, Human, Pair 1/genetics ; DNA-Binding Proteins/genetics ; Developmental Disabilities ; Female ; Humans ; Intellectual Disability ; Ireland ; Muscle Hypotonia ; Mutation ; Phenotype ; Rare Diseases ; Risk ; Syndrome
Raport
Tytuł :
Clinical characteristics and prognostic values of 1p32.3 deletion detected through fluorescence in situ hybridization in patients with newly diagnosed multiple myeloma: a single-center study in China.
Autorzy :
Wang H; Institute of Hematology, Department of Hematology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, 310003, China.; Key Laboratory of Hematologic Malignancies, Diagnosis and Treatment, Zhejiang Province, Hangzhou, 310003, China.
Meng H; Institute of Hematology, Department of Hematology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, 310003, China.; Key Laboratory of Hematologic Malignancies, Diagnosis and Treatment, Zhejiang Province, Hangzhou, 310003, China.
Wang J; Institute of Hematology, Department of Hematology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, 310003, China.; Key Laboratory of Hematologic Malignancies, Diagnosis and Treatment, Zhejiang Province, Hangzhou, 310003, China.
Lou Y; Institute of Hematology, Department of Hematology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, 310003, China.; Key Laboratory of Hematologic Malignancies, Diagnosis and Treatment, Zhejiang Province, Hangzhou, 310003, China.
Zhou Y; Institute of Hematology, Department of Hematology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, 310003, China.
Lin P; Department of Hematology, Taizhou Central Hospital, Taizhou, 318000, China.
Li F; Institute of Hematology, Department of Hematology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, 310003, China.
Liu L; Institute of Hematology, Department of Hematology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, 310003, China.; Key Laboratory of Hematologic Malignancies, Diagnosis and Treatment, Zhejiang Province, Hangzhou, 310003, China.
Xu H; Institute of Hematology, Department of Hematology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, 310003, China.; Key Laboratory of Hematologic Malignancies, Diagnosis and Treatment, Zhejiang Province, Hangzhou, 310003, China.
Yang M; Institute of Hematology, Department of Hematology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, 310003, China.; Key Laboratory of Hematologic Malignancies, Diagnosis and Treatment, Zhejiang Province, Hangzhou, 310003, China.
Jin J; Institute of Hematology, Department of Hematology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, 310003, China. .; Key Laboratory of Hematologic Malignancies, Diagnosis and Treatment, Zhejiang Province, Hangzhou, 310003, China. .
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Źródło :
Frontiers of medicine [Front Med] 2020 Jun; Vol. 14 (3), pp. 327-334. Date of Electronic Publication: 2019 Nov 29.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 1/*genetics
Multiple Myeloma/*genetics
Adult ; Aged ; Aged, 80 and over ; Antineoplastic Agents/therapeutic use ; Biomarkers ; Bone Marrow Cells/metabolism ; Bortezomib/administration & dosage ; China ; Disease-Free Survival ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Kaplan-Meier Estimate ; L-Lactate Dehydrogenase/analysis ; Male ; Middle Aged ; Multiple Myeloma/drug therapy ; Multiple Myeloma/mortality ; Multivariate Analysis ; Prognosis ; Retrospective Studies ; Thalidomide/administration & dosage ; beta 2-Microglobulin/analysis
Czasopismo naukowe
Tytuł :
A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis.
Autorzy :
Aagaard Nolting L; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Brasch-Andersen C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Cox H; Clinical Genetics Unit, West Midlands Regional Clinical Genetics Unit Birmingham U.K., Birmingham, UK.
Kanani F; Sheffield Clinical Genetics Service, Northern General Hospital, Sheffield, UK.
Parker M; Sheffield Clinical Genetics Service, Northern General Hospital, Sheffield, UK.
Fry AE; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
Loddo S; Laboratory of Medical Genetics, Bambino Gesù Childrens' Hospital, Rome, Italy.
Novelli A; Laboratory of Medical Genetics, Bambino Gesù Childrens' Hospital, Rome, Italy.
Dentici ML; Medical Genetics Unit, Bambino Gesù Children's Hospital, Rome, Italy.
Joss S; Clinical Genetics, West of Scotland Genetic Services, the Queen Elisabeth University Hospital, Glasgow, UK.
Jørgensen JP; Hans Christian Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.
Fagerberg CR; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
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Źródło :
Clinical genetics [Clin Genet] 2020 Jun; Vol. 97 (6), pp. 927-932. Date of Electronic Publication: 2020 Apr 01.
Typ publikacji :
Journal Article
MeSH Terms :
Blepharoptosis/*genetics
Calmodulin-Binding Proteins/*genetics
CapZ Actin Capping Protein/*genetics
Chromosome Disorders/*genetics
Learning Disabilities/*genetics
Ubiquitin-Protein Ligases/*genetics
Blepharoptosis/pathology ; Chromosome Deletion ; Chromosome Disorders/pathology ; Chromosomes, Human, Pair 1/genetics ; Developmental Disabilities/genetics ; Developmental Disabilities/pathology ; Female ; Genetic Association Studies ; Humans ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Learning Disabilities/pathology ; Male ; Phenotype
SCR Disease Name :
Chromosome 1p36 Deletion Syndrome; Ptosis, Hereditary Congenital 1
Czasopismo naukowe
Tytuł :
Gene-based and pathway-based testing for rare-variant association in affected sib pairs.
Autorzy :
Romanescu RG; Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, Ontario, Canada.; Centre for Healthcare Innovation, Rady Faculty of Health Science, University of Manitoba, Winnipeg, Manitoba, Canada.
Green J; Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, Ontario, Canada.
Andrulis IL; Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
Bull SB; Division of Biostatistics, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.
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Źródło :
Genetic epidemiology [Genet Epidemiol] 2020 Jun; Vol. 44 (4), pp. 368-381. Date of Electronic Publication: 2020 Apr 01.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Variation*
Models, Genetic*
Alleles ; Breast Neoplasms/genetics ; Breast Neoplasms/pathology ; Chromosomes, Human, Pair 1 ; Female ; Gene Frequency ; Genetic Heterogeneity ; Genetic Linkage ; Haplotypes ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Proportional Hazards Models
Czasopismo naukowe
Tytuł :
Human Gene Sequences in SARS-CoV-2 and Other Viruses.
Autorzy :
Lehrer S; Department of Radiation Oncology Icahn School of Medicine at Mount Sinai, New York, NY, U.S.A. .
Rheinstein PH; Severn Health Solutions, Severna Park, MD, U.S.A.
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Źródło :
In vivo (Athens, Greece) [In Vivo] 2020 Jun; Vol. 34 (3 Suppl), pp. 1633-1636.
Typ publikacji :
Comparative Study; Journal Article
MeSH Terms :
Genome, Viral*
Betacoronavirus/*genetics
Exoribonucleases/*genetics
SARS Virus/*genetics
Viral Nonstructural Proteins/*genetics
Chromosomes, Human, Pair 1/genetics ; Chromosomes, Human, Pair 3/genetics ; DNA Viruses/genetics ; Endoribonucleases ; GPI-Linked Proteins/genetics ; Humans ; Middle East Respiratory Syndrome Coronavirus/genetics ; Netrins/genetics ; SARS-CoV-2 ; Sequence Alignment ; Sequence Homology, Nucleic Acid ; Species Specificity ; Viral Proteins/genetics
Czasopismo naukowe
Tytuł :
1p31.1 microdeletion including only NEGR1 gene in two patients.
Autorzy :
Tassano E; Laboratory of Cytogenetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Laboratorio di Genetica Umana, IRCCS Istituto Giannina Gaslini, Genoa, Italy. Electronic address: .
Uccella S; Unit of Child Neuropsychiatry, IRCCS Istituto Giannina Gaslini, University of Genoa, Genoa, Italy.
Giacomini T; Unit of Child Neuropsychiatry, IRCCS Istituto Giannina Gaslini, University of Genoa, Genoa, Italy.
Fiorio P; Laboratory of Cytogenetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Laboratorio di Genetica Umana, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Tavella E; Laboratory of Cytogenetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Laboratorio di Genetica Umana, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Malacarne M; Laboratorio di Genetica Umana, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Gimelli G; Laboratory of Cytogenetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Laboratorio di Genetica Umana, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Coviello D; Laboratorio di Genetica Umana, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Ronchetto P; Laboratory of Cytogenetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Laboratorio di Genetica Umana, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2020 Jun; Vol. 63 (6), pp. 103919. Date of Electronic Publication: 2020 Mar 21.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Gene Deletion*
Cell Adhesion Molecules, Neuronal/*genetics
Mental Disorders/*genetics
Nervous System Diseases/*genetics
Adolescent ; Chromosomes, Human, Pair 1/genetics ; Female ; GPI-Linked Proteins/genetics ; Humans ; Infant ; Male ; Mental Disorders/pathology ; Nervous System Diseases/pathology ; Phenotype
Czasopismo naukowe
Tytuł :
SARS-CoV-2 orf1b Gene Sequence in the NTNG1 Gene on Human Chromosome 1.
Autorzy :
Lehrer S; Department of Radiation Oncology, Icahn School of Medicine at Mount Sinai, New York, NY, U.S.A. .
Rheinstein PH; Severn Health Solutions, Severna Park, MD, U.S.A.
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Źródło :
In vivo (Athens, Greece) [In Vivo] 2020 Jun; Vol. 34 (3 Suppl), pp. 1629-1632.
Typ publikacji :
Comparative Study; Journal Article
MeSH Terms :
Genes, Viral*
Betacoronavirus/*genetics
Chromosomes, Human, Pair 1/*genetics
Exoribonucleases/*genetics
Netrin-1/*genetics
Viral Nonstructural Proteins/*genetics
Viral Proteins/*genetics
Animals ; Antiviral Agents/pharmacology ; Antiviral Agents/therapeutic use ; Base Sequence ; COVID-19 ; Coronavirus Infections/drug therapy ; DNA, Complementary/genetics ; Endoribonucleases/genetics ; Haloperidol/analogs & derivatives ; Haloperidol/pharmacology ; Haloperidol/therapeutic use ; Humans ; Introns/genetics ; Pan troglodytes/genetics ; Pandemics ; Pneumonia, Viral/drug therapy ; Polyproteins ; RNA, Viral/genetics ; SARS-CoV-2 ; Schizophrenia/drug therapy ; Schizophrenia/genetics ; Sequence Alignment ; Sequence Homology, Nucleic Acid ; Species Specificity
Czasopismo naukowe
Tytuł :
1p/19q co-deleted fibrillary astrocytomas: Not everything that is co-deleted is an oligodendroglioma.
Autorzy :
Andrews C; University School and Cleveland Clinic Department of Anatomic Pathology, USA.
Prayson RA; University School and Cleveland Clinic Department of Anatomic Pathology, USA. Electronic address: .
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Źródło :
Annals of diagnostic pathology [Ann Diagn Pathol] 2020 Jun; Vol. 46, pp. 151519. Date of Electronic Publication: 2020 Apr 08.
Typ publikacji :
Journal Article
MeSH Terms :
Astrocytoma/*genetics
Brain Neoplasms/*genetics
Chromosomes, Human, Pair 1/*genetics
Chromosomes, Human, Pair 19/*genetics
Adult ; Aged ; Aged, 80 and over ; Astrocytoma/diagnosis ; Biomarkers, Tumor/analysis ; Brain Neoplasms/diagnosis ; Chromosome Deletion ; Diagnosis, Differential ; Female ; Humans ; Male ; Middle Aged ; Oligodendroglioma/diagnosis ; Oligodendroglioma/genetics ; Retrospective Studies
Czasopismo naukowe
Tytuł :
5-ALA False-Positive in Anaplastic Oligodendroglioma, IDH-mutant and 1p/19q-codeleted.
Autorzy :
La Rocca G; Institute of Neurosurgery, Fondazione Policlinico Universitario A. Gemelli Irccs, Catholic University, Rome, Italy, Department of Neurosurgery, Mater Olbia Hospital, Olbia, Italy.
Barresi V; Department of Diagnostics and Public Health, Section of Anatomical Pathology, University And Hospital Trust of Verona, Verona, Italy.
Sabatino G; Institute of Neurosurgery, Fondazione Policlinico Universitario A. Gemelli Irccs, Catholic University, Rome, Italy, Department of Neurosurgery, Mater Olbia Hospital, Olbia, Italy.
Altieri R; Division of Neurosurgery, Department of Neurosciences Policlinico 'G.Rodolico' University Hospital, Catania, Italy.
Ius T; Neurosurgery Unit, Department of Neuroscience, Santamaria Dellamisericordia, University Hospital, Udine, Italy.
Olivi A; Institute of Neurosurgery, Fondazione Policlinico Universitario A. Gemelli Irccs, Catholic University, Rome, Italy.
Mazzucchi E; Department of Neurosurgery, Mater Olbia Hospital, Olbia, Italy.
Pignotti F; Department of Neurosurgery, Mater Olbia Hospital, Olbia, Italy.
Della Pepa GM; Institute of Neurosurgery, Fondazione Policlinico Universitario A. Gemelli Irccs, Catholic University, Rome, Italy.
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Źródło :
Surgical technology international [Surg Technol Int] 2020 May 28; Vol. 36, pp. 453-456.
Typ publikacji :
Journal Article
MeSH Terms :
Brain Neoplasms*
Glioma*
Oligodendroglioma*
Chromosomes, Human, Pair 1 ; Chromosomes, Human, Pair 19 ; Fluorescence ; Humans ; Neoplasm Recurrence, Local
Czasopismo naukowe
Tytuł :
Chromosome 1 abnormalities and survival of patients with multiple myeloma in the era of novel agents.
Autorzy :
Giri S; Institute for Cancer Outcomes and Survivorship, University of Alabama at Birmingham, Birmingham, AL.; Cancer Outcomes, Public Policy, and Effectiveness Research Center and.
Huntington SF; Cancer Outcomes, Public Policy, and Effectiveness Research Center and.; Department of Internal Medicine, Yale School of Medicine, New Haven, CT; and.
Wang R; Cancer Outcomes, Public Policy, and Effectiveness Research Center and.; Department of Chronic Disease Epidemiology and.
Zeidan AM; Cancer Outcomes, Public Policy, and Effectiveness Research Center and.; Department of Internal Medicine, Yale School of Medicine, New Haven, CT; and.
Podoltsev N; Cancer Outcomes, Public Policy, and Effectiveness Research Center and.; Department of Internal Medicine, Yale School of Medicine, New Haven, CT; and.
Gore SD; Cancer Outcomes, Public Policy, and Effectiveness Research Center and.; Department of Internal Medicine, Yale School of Medicine, New Haven, CT; and.
Ma X; Cancer Outcomes, Public Policy, and Effectiveness Research Center and.; Department of Chronic Disease Epidemiology and.
Gross CP; Cancer Outcomes, Public Policy, and Effectiveness Research Center and.; Department of Internal Medicine, Yale School of Medicine, New Haven, CT; and.; Department of Chronic Disease Epidemiology and.
Davidoff AJ; Cancer Outcomes, Public Policy, and Effectiveness Research Center and.; Department of Health Policy and Management, Yale School of Public Health, New Haven, CT.
Neparidze N; Cancer Outcomes, Public Policy, and Effectiveness Research Center and.; Department of Internal Medicine, Yale School of Medicine, New Haven, CT; and.
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Źródło :
Blood advances [Blood Adv] 2020 May 26; Vol. 4 (10), pp. 2245-2253.
Typ publikacji :
Journal Article
MeSH Terms :
Multiple Myeloma*/diagnosis
Multiple Myeloma*/drug therapy
Multiple Myeloma*/genetics
Aged ; Chromosome Aberrations ; Chromosomes, Human, Pair 1/genetics ; Humans ; In Situ Hybridization, Fluorescence ; Neoplasm Staging
Czasopismo naukowe
Tytuł :
Neural crest-derived tumor neuroblastoma and melanoma share 1p13.2 as susceptibility locus that shows a long-range interaction with the SLC16A1 gene.
Autorzy :
Avitabile M; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy.; CEINGE Biotecnologie Avanzate, Naples, Italy.
Succoio M; CEINGE Biotecnologie Avanzate, Naples, Italy.
Testori A; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy.
Cardinale A; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy.; CEINGE Biotecnologie Avanzate, Naples, Italy.
Vaksman Z; Division of Oncology and Center for Childhood Cancer Research, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Lasorsa VA; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy.; CEINGE Biotecnologie Avanzate, Naples, Italy.
Cantalupo S; IRCCS SDN, Naples, Italy.
Esposito M; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy.
Cimmino F; CEINGE Biotecnologie Avanzate, Naples, Italy.
Montella A; CEINGE Biotecnologie Avanzate, Naples, Italy.
Formicola D; IRCCS SDN, Naples, Italy.
Koster J; Department of Oncogenomics, Academic Medical Center, University of Amsterdam, Meibergdreef, Amsterdam, The Netherlands.
Andreotti V; Dipartimento di Medicina Oncologica Integrata, Università degli Studi di Genova,Genova, Italy.
Ghiorzo P; Dipartimento di Medicina Oncologica Integrata, Università degli Studi di Genova,Genova, Italy.
Romano MF; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy.
Staibano S; Dipartimento di Scienze Biomediche Avanzate, Università degli Studi di Napoli Federico II, Naples, Italy.
Scalvenzi M; Dipartimento di Medicina clinica e Chirurgia, Università degli Studi di Napoli Federico II, Naples, Italy.
Ayala F; National Cancer Institute, 'Fondazione G. Pascale'-IRCCS, Naples, Italy.
Hakonarson H; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Corrias MV; Experimental Therapy in Oncology, Istituto Giannina Gaslini, Genova, Italy.
Devoto M; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Translational and Precision Medicine, University of Rome Sapienza, Rome, Italy.
Law MH; Statistical Genetics, QIMR Berghofer Medical Research Institute Brisbane, Queensland, Australia.
Iles MM; Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.
Brown K; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Diskin S; Division of Oncology and Center for Childhood Cancer Research, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Zambrano N; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy.; CEINGE Biotecnologie Avanzate, Naples, Italy.
Iolascon A; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy.; CEINGE Biotecnologie Avanzate, Naples, Italy.
Capasso M; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy.; CEINGE Biotecnologie Avanzate, Naples, Italy.; IRCCS SDN, Naples, Italy.
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Źródło :
Carcinogenesis [Carcinogenesis] 2020 May 14; Vol. 41 (3), pp. 284-295.
Typ publikacji :
Journal Article; Meta-Analysis; Research Support, Non-U.S. Gov't
MeSH Terms :
Adrenal Gland Neoplasms/*genetics
Melanoma/*genetics
Monocarboxylic Acid Transporters/*genetics
Neuroblastoma/*genetics
Skin Neoplasms/*genetics
Symporters/*genetics
Adrenal Gland Neoplasms/pathology ; Cell Differentiation/genetics ; Cell Movement/genetics ; Chromosomes, Human, Pair 1/genetics ; Female ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Male ; Melanoma/pathology ; Neural Crest/pathology ; Neuroblastoma/pathology ; Polymorphism, Single Nucleotide/genetics ; Skin Neoplasms/pathology
SCR Disease Name :
Melanoma, Cutaneous Malignant; Neural crest tumor
Czasopismo naukowe
Tytuł :
Dental anomalies as a possible clue of 1p36 deletion syndrome due to germline mosaicism: a case report.
Autorzy :
Nistico' D; University of Trieste, Trieste, Italy. .
Guidolin F; University of Padua, Padua, Italy.
Navarra CO; Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
Bobbo M; Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
Magnolato A; Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
D'Adamo AP; University of Trieste, Trieste, Italy.; Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
Giorgio E; Department Medical Sciences, University of Torino, Torino, Italy.
Pivetta B; Division of Medical Genetics, AAS n.5 Friuli Occidentale, Pordenone, Italy.
Barbi E; University of Trieste, Trieste, Italy.; Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
Gasparini P; University of Trieste, Trieste, Italy.; Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
Cadenaro M; University of Trieste, Trieste, Italy.; Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
Sirchia F; Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
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Źródło :
BMC pediatrics [BMC Pediatr] 2020 May 09; Vol. 20 (1), pp. 201. Date of Electronic Publication: 2020 May 09.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Germ Cells*
Mosaicism*
Child ; Chromosome Deletion ; Chromosome Disorders ; Chromosomes, Human, Pair 1 ; Humans ; In Situ Hybridization, Fluorescence ; Italy
SCR Disease Name :
Chromosome 1p36 Deletion Syndrome
Czasopismo naukowe

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