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Tytuł:
Somatic mosaicism in inborn errors of immunity: Current knowledge, challenges, and future perspectives.
Autorzy:
Aluri J; Department of Pediatrics, Division of Rheumatology/Immunology, Washington University in St. Louis, St. Louis, MO 63110, USA.
Cooper MA; Department of Pediatrics, Division of Rheumatology/Immunology, Washington University in St. Louis, St. Louis, MO 63110, USA. Electronic address: Cooper_.
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Źródło:
Seminars in immunology [Semin Immunol] 2023 May; Vol. 67, pp. 101761. Date of Electronic Publication: 2023 Apr 14.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Mosaicism*
Autoimmunity*
Humans ; Phenotype
Czasopismo naukowe
Szczegóły
Tytuł:
Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.
Autorzy:
Truty R; Invitae, 1400 16th Street, San Francisco, CA 94103, USA.
Rojahn S; Invitae, 1400 16th Street, San Francisco, CA 94103, USA.
Ouyang K; Invitae, 1400 16th Street, San Francisco, CA 94103, USA.
Kautzer C; Invitae, 1400 16th Street, San Francisco, CA 94103, USA.
Kennemer M; Invitae, 1400 16th Street, San Francisco, CA 94103, USA.
Pineda-Alvarez D; Invitae, 1400 16th Street, San Francisco, CA 94103, USA.
Johnson B; Invitae, 1400 16th Street, San Francisco, CA 94103, USA.
Stafford A; Invitae, 1400 16th Street, San Francisco, CA 94103, USA.
Basel-Salmon L; Rabin Medical Center-Beilinson Hospital and Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel; Felsenstein Medical Research Center, Petach Tikva, Israel.
Saitta S; Division of Clinical Genetics, Departments of Pediatrics and Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Slavotinek A; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Chandrasekharappa SC; Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Suarez CJ; Department of Pathology, Stanford University School of Medicine, Stanford, CA 94301, USA.
Burnett L; Invitae Australia, Sydney, NSW, Australia.
Nussbaum RL; Invitae, 1400 16th Street, San Francisco, CA 94103, USA; School of Medicine, University of California - San Francisco, San Francisco, CA, USA.
Aradhya S; Invitae, 1400 16th Street, San Francisco, CA 94103, USA; Department of Pathology, Stanford University School of Medicine, Stanford, CA 94301, USA. Electronic address: .
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Źródło:
American journal of human genetics [Am J Hum Genet] 2023 Apr 06; Vol. 110 (4), pp. 551-564. Date of Electronic Publication: 2023 Mar 17.
Typ publikacji:
Journal Article; Research Support, N.I.H., Intramural
MeSH Terms:
Mosaicism*
DNA Copy Number Variations*/genetics
Genetic Testing ; Phenotype ; High-Throughput Nucleotide Sequencing/methods ; Mutation
Czasopismo naukowe
Szczegóły
Tytuł:
Low-level mosaic trisomy 13 at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy in various tissues.
Autorzy:
Chen CP; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Medical Laboratory Science and Biotechnology, College of Medical & Health Science, Asia University, Taichung, Taiwan. Electronic address: cpc_.
Weng SL; Department of Obstetrics and Gynecology, Hsinchu MacKay Memorial Hospital, Hsinchu, Taiwan; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan; MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan.
Chen SW; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Chern SR; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Wu PS; Gene Biodesign Co. Ltd, Taipei, Taiwan.
Wu FT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Pan YT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Lee CC; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Chen WL; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Wang W; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
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Źródło:
Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2023 Mar; Vol. 62 (2), pp. 354-357.
Typ publikacji:
Case Reports; Twin Study
MeSH Terms:
Amniocentesis*
Mosaicism*
Adult ; Child ; Female ; Humans ; Infant, Newborn ; Male ; Pregnancy ; Comparative Genomic Hybridization ; Cytogenetic Analysis ; In Situ Hybridization, Fluorescence ; Karyotyping ; Trisomy/diagnosis ; Trisomy/genetics ; Trisomy 13 Syndrome
Raport
Szczegóły
Tytuł:
Mosaicism for trisomy 17 in a single colony at amniocentesis in a pregnancy associated with a favorable outcome.
Autorzy:
Chen CP; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan. Electronic address: cpc_.
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Źródło:
Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2023 May; Vol. 62 (3), pp. 485-487.
Typ publikacji:
Journal Article
MeSH Terms:
Amniocentesis*
Mosaicism*
Pregnancy ; Female ; Humans ; Trisomy/diagnosis ; Trisomy/genetics ; Chromosomes, Human, Pair 17 ; Comparative Genomic Hybridization
SCR Disease Name:
Chromosome 17 trisomy
Czasopismo naukowe
Szczegóły
Tytuł:
Prenatal diagnosis and molecular genetic analysis of recurrent trisomy 18 of maternal origin in two consecutive pregnancies.
Autorzy:
Chen CP; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan. Electronic address: cpc_.
Wu FT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Wong CH; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Chen SW; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Chern SR; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Pan YT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Chen WL; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Wang W; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
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Źródło:
Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2023 May; Vol. 62 (3), pp. 444-447.
Typ publikacji:
Case Reports
MeSH Terms:
Trisomy*/diagnosis
Trisomy*/genetics
Mosaicism*
Pregnancy ; Female ; Humans ; Adult ; Trisomy 18 Syndrome/diagnosis ; Trisomy 18 Syndrome/genetics ; Prenatal Diagnosis ; Amniocentesis ; Molecular Biology ; Comparative Genomic Hybridization
Raport
Szczegóły
Tytuł:
Two sisters with cardiac-urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism?
Autorzy:
Slaba K; Department of Pediatrics, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
Jezova M; Department of Pathology, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
Pokorna P; Central European Institute of Technology, Masaryk University, Brno, Czech Republic.
Palova H; Central European Institute of Technology, Masaryk University, Brno, Czech Republic.
Tuckova J; Department of Pediatrics, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
Papez J; Department of Pediatrics, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
Prochazkova D; Department of Pediatrics, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic.; Institute of Medical Genetics and Genomics, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
Jabandziev P; Department of Pediatrics, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic.; Department of Pathology, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
Slaby O; Central European Institute of Technology, Masaryk University, Brno, Czech Republic.; Department of Biology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 May; Vol. 11 (5), pp. e2139. Date of Electronic Publication: 2023 Jan 25.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mosaicism*
Siblings*
Female ; Humans ; Exome Sequencing ; Syndrome ; Transcription Factors/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping.
Autorzy:
Brakta S; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia. .
Hawkins ZA; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia.
Sahajpal N; Department of Pathology, Medical College of Georgia, Augusta University, Augusta, Georgia.; Department of Genetics, Greenwood Genetics Center, Greenwood, SC, USA.
Seman N; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia.
Kira D; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia.
Chorich LP; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia.
Kim HG; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.
Xu H; Department of Population Health Sciences, Medical College of Georgia, Augusta University, Augusta, Georgia.
Phillips JA 3rd; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.
Kolhe R; Department of Pathology, Medical College of Georgia, Augusta University, Augusta, Georgia.
Layman LC; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia. .; Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University, Augusta, Georgia. .; Department of Physiology, Medical College of Georgia, Augusta University, Augusta, Georgia. .
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Źródło:
Human genetics [Hum Genet] 2023 Apr; Vol. 142 (4), pp. 483-494. Date of Electronic Publication: 2023 Feb 17.
Typ publikacji:
Journal Article
MeSH Terms:
Mosaicism*
Congenital Abnormalities*/genetics
Humans ; In Situ Hybridization, Fluorescence ; Aneuploidy ; Chromosome Mapping
SCR Disease Name:
Mullerian aplasia
Czasopismo naukowe
Szczegóły
Tytuł:
Germline mosaicism for a disease-causing mutation in the ATP1A3 gene in a Chinese family.
Autorzy:
Li F; Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, No. 9 Jinsui Road, Guangzhou, 510623, Guangdong, China.
Li R; Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, No. 9 Jinsui Road, Guangzhou, 510623, Guangdong, China.
Zhang Y; Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, No. 9 Jinsui Road, Guangzhou, 510623, Guangdong, China.
Jing X; Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, No. 9 Jinsui Road, Guangzhou, 510623, Guangdong, China.
Liao C; Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, No. 9 Jinsui Road, Guangzhou, 510623, Guangdong, China. .
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Źródło:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2023 Apr; Vol. 44 (4), pp. 1451-1453. Date of Electronic Publication: 2022 Dec 20.
Typ publikacji:
Letter; Research Support, Non-U.S. Gov't
MeSH Terms:
Germ-Line Mutation*/genetics
Mosaicism*
Sodium-Potassium-Exchanging ATPase*/genetics
Humans ; East Asian People ; Germ Cells ; Pedigree
Raport
Szczegóły
Tytuł:
Mosaic 46,XY,dup(14) (q12q22.3)/46, XY at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy in various tissues.
Autorzy:
Chen CP; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Medical Laboratory Science and Biotechnology, College of Medical & Health Science, Asia University, Taichung, Taiwan. Electronic address: cpc_.
Wu FT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Chen CY; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan; MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan.
Chen SW; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Chern SR; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Wu PS; Gene Biodesign Co. Ltd, Taipei, Taiwan.
Pan YT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Lee CC; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Lee MS; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Chen YY; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Wang W; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
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Źródło:
Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2023 Mar; Vol. 62 (2), pp. 343-347.
Typ publikacji:
Case Reports
MeSH Terms:
Amniocentesis*
Mosaicism*
Pregnancy ; Female ; Male ; Humans ; Comparative Genomic Hybridization ; In Situ Hybridization, Fluorescence ; Cytogenetic Analysis ; Karyotype ; Trisomy
Raport
Szczegóły
Tytuł:
Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome.
Autorzy:
Li X; College of Otolaryngology Head and Neck Surgery, Key Lab of Hearing Impairment Science of Ministry of Education, Key Lab of Hearing Impairment Prevention and Treatment of Beijing, The Sixth Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, National Clinical Research Center for Otolaryngologic Diseases, #28 Fuxing Road, Beijing, 100853, China.; Department of Otorhinolaryngology Head and Neck Surgery, Key Laboratory for Pediatric Diseases of Otolaryngology-Head and Neck Surgery, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Huang S; College of Otolaryngology Head and Neck Surgery, Key Lab of Hearing Impairment Science of Ministry of Education, Key Lab of Hearing Impairment Prevention and Treatment of Beijing, The Sixth Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, National Clinical Research Center for Otolaryngologic Diseases, #28 Fuxing Road, Beijing, 100853, China.
Wang G; College of Otolaryngology Head and Neck Surgery, Key Lab of Hearing Impairment Science of Ministry of Education, Key Lab of Hearing Impairment Prevention and Treatment of Beijing, The Sixth Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, National Clinical Research Center for Otolaryngologic Diseases, #28 Fuxing Road, Beijing, 100853, China.
Kang D; College of Otolaryngology Head and Neck Surgery, Key Lab of Hearing Impairment Science of Ministry of Education, Key Lab of Hearing Impairment Prevention and Treatment of Beijing, The Sixth Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, National Clinical Research Center for Otolaryngologic Diseases, #28 Fuxing Road, Beijing, 100853, China.
Han M; College of Otolaryngology Head and Neck Surgery, Key Lab of Hearing Impairment Science of Ministry of Education, Key Lab of Hearing Impairment Prevention and Treatment of Beijing, The Sixth Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, National Clinical Research Center for Otolaryngologic Diseases, #28 Fuxing Road, Beijing, 100853, China.
Wu X; College of Otolaryngology Head and Neck Surgery, Key Lab of Hearing Impairment Science of Ministry of Education, Key Lab of Hearing Impairment Prevention and Treatment of Beijing, The Sixth Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, National Clinical Research Center for Otolaryngologic Diseases, #28 Fuxing Road, Beijing, 100853, China.
Yang J; College of Otolaryngology Head and Neck Surgery, Key Lab of Hearing Impairment Science of Ministry of Education, Key Lab of Hearing Impairment Prevention and Treatment of Beijing, The Sixth Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, National Clinical Research Center for Otolaryngologic Diseases, #28 Fuxing Road, Beijing, 100853, China.
Zheng Q; College of Otolaryngology Head and Neck Surgery, Key Lab of Hearing Impairment Science of Ministry of Education, Key Lab of Hearing Impairment Prevention and Treatment of Beijing, The Sixth Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, National Clinical Research Center for Otolaryngologic Diseases, #28 Fuxing Road, Beijing, 100853, China.
Zhao C; College of Otolaryngology Head and Neck Surgery, Key Lab of Hearing Impairment Science of Ministry of Education, Key Lab of Hearing Impairment Prevention and Treatment of Beijing, The Sixth Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, National Clinical Research Center for Otolaryngologic Diseases, #28 Fuxing Road, Beijing, 100853, China.
Yuan Y; College of Otolaryngology Head and Neck Surgery, Key Lab of Hearing Impairment Science of Ministry of Education, Key Lab of Hearing Impairment Prevention and Treatment of Beijing, The Sixth Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, National Clinical Research Center for Otolaryngologic Diseases, #28 Fuxing Road, Beijing, 100853, China. .
Dai P; College of Otolaryngology Head and Neck Surgery, Key Lab of Hearing Impairment Science of Ministry of Education, Key Lab of Hearing Impairment Prevention and Treatment of Beijing, The Sixth Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, National Clinical Research Center for Otolaryngologic Diseases, #28 Fuxing Road, Beijing, 100853, China. .
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Źródło:
Human genetics [Hum Genet] 2023 Mar; Vol. 142 (3), pp. 419-430. Date of Electronic Publication: 2022 Dec 28.
Typ publikacji:
Journal Article
MeSH Terms:
Mosaicism*
Waardenburg Syndrome*/diagnosis
Waardenburg Syndrome*/genetics
Humans ; Retrospective Studies ; Parents ; Exons ; Mutation
Czasopismo naukowe
Szczegóły
Tytuł:
Challenges and Opportunities for Clinical Cytogenetics in the 21st Century.
Autorzy:
Heng E; Stanford University, 450 Jane Stanford Way, Stanford, CA 94305, USA.
Thanedar S; Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, USA.
Heng HH; Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, USA.; Department of Pathology, Wayne State University School of Medicine, Detroit, MI 48201, USA.
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Źródło:
Genes [Genes (Basel)] 2023 Feb 15; Vol. 14 (2). Date of Electronic Publication: 2023 Feb 15.
Typ publikacji:
Journal Article
MeSH Terms:
Mosaicism*
Chromosomal Instability*
Humans ; Cytogenetics/methods ; Karyotyping ; Genomics/methods
Czasopismo naukowe
Szczegóły
Tytuł:
Frequency of de novo variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2.
Autorzy:
Vado Y; Rare Diseases Research Group, Molecular (Epi)Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, Vitoria-Gasteiz, Araba, Spain.
Pereda A; Rare Diseases Research Group, Molecular (Epi)Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, Vitoria-Gasteiz, Araba, Spain.
Manero-Azua A; Rare Diseases Research Group, Molecular (Epi)Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, Vitoria-Gasteiz, Araba, Spain.
Perez de Nanclares G; Rare Diseases Research Group, Molecular (Epi)Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, Vitoria-Gasteiz, Araba, Spain.
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Corporate Authors:
Spanish Network for Imprinting Disorders
Źródło:
Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2023 Jan 04; Vol. 13, pp. 1055431. Date of Electronic Publication: 2023 Jan 04 (Print Publication: 2022).
Typ publikacji:
Journal Article
MeSH Terms:
Mosaicism*
Parathyroid Hormone-Related Protein*
Humans ; Retrospective Studies ; Mutation ; Parents ; DNA/genetics
Czasopismo naukowe
Szczegóły
Tytuł:
SOX3 duplication in a boy with 46,XX ovotesticular disorder of sex development and his 46,XX sister with atypical genitalia: Probable germline mosaicism.
Autorzy:
de Oliveira FM; Department of Translational Medicine, School of Medical Sciences (FCM), University of Campinas (Unicamp), Campinas, São Paulo, Brazil.
Barros BA; Department of Pediatrics, FCM, University of Campinas (Unicamp), Campinas, São Paulo, Brazil.
Dos Santos AP; Department of Translational Medicine, School of Medical Sciences (FCM), University of Campinas (Unicamp), Campinas, São Paulo, Brazil.
Campos NLV; Department of Translational Medicine, School of Medical Sciences (FCM), University of Campinas (Unicamp), Campinas, São Paulo, Brazil.
Mazzola TN; Pediatric Research Center - Ciped, FCM, University of Campinas (Unicamp), Campinas, São Paulo, Brazil.
Filho PL; Pediatric Research Center - Ciped, FCM, University of Campinas (Unicamp), Campinas, São Paulo, Brazil.
Andrade LALA; Department of Pathology, FCM, University of Campinas (Unicamp), Campinas, São Paulo, Brazil.
Guaragna MS; Center for Molecular Biology and Genetic Engineering (CBMEG), University of Campinas (Unicamp), Campinas, São Paulo, Brazil.
de Mello MP; Center for Molecular Biology and Genetic Engineering (CBMEG), University of Campinas (Unicamp), Campinas, São Paulo, Brazil.
Guerra-Junior G; Department of Pediatrics, FCM, University of Campinas (Unicamp), Campinas, São Paulo, Brazil.
Vieira TAP; Department of Translational Medicine, School of Medical Sciences (FCM), University of Campinas (Unicamp), Campinas, São Paulo, Brazil.
Maciel-Guerra AT; Department of Translational Medicine, School of Medical Sciences (FCM), University of Campinas (Unicamp), Campinas, São Paulo, Brazil.
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Źródło:
American journal of medical genetics. Part A [Am J Med Genet A] 2023 Feb; Vol. 191 (2), pp. 592-598. Date of Electronic Publication: 2022 Nov 23.
Typ publikacji:
Case Reports; Research Support, Non-U.S. Gov't
MeSH Terms:
Mosaicism*
Ovotesticular Disorders of Sex Development*/diagnosis
Ovotesticular Disorders of Sex Development*/genetics
Ovotesticular Disorders of Sex Development*/pathology
Male ; Female ; Humans ; Siblings ; Ovary/pathology ; Germ Cells/pathology ; SOXB1 Transcription Factors/genetics
Raport
Szczegóły
Tytuł:
Localized heterochrony integrates overgrowth potential of oncogenic clones.
Autorzy:
Blum N; Department of Orthopaedics, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA.; Department of Genetics, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, MA 02115, USA.
Harris MP; Department of Orthopaedics, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA.; Department of Genetics, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, MA 02115, USA.
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Źródło:
Disease models & mechanisms [Dis Model Mech] 2023 Feb 01; Vol. 16 (2). Date of Electronic Publication: 2023 Feb 08.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, Non-U.S. Gov't
MeSH Terms:
Zebrafish*/genetics
Mosaicism*
Animals ; Mutation/genetics ; Phenotype ; Clone Cells
Czasopismo naukowe
Szczegóły
Tytuł:
Mosaic tetrasomy 9p at amniocentesis in a pregnancy associated with a favorable fetal outcome, perinatal progressive decrease of the aneuploid cell line and cytogenetic discrepancy in various tissues.
Autorzy:
Chen CP; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan. Electronic address: cpc_.
Chen SW; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Chern SR; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Wu PS; Gene Biodesign Co. Ltd, Taipei, Taiwan.
Wu FT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Pan YT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Lee CC; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Pan CW; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Chen YY; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Wang W; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
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Źródło:
Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2023 Jan; Vol. 62 (1), pp. 148-154.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Amniocentesis*
Mosaicism*
Pregnancy ; Female ; Humans ; Comparative Genomic Hybridization ; In Situ Hybridization, Fluorescence ; Aneuploidy ; Karyotyping ; Karyotype ; Trisomy
SCR Disease Name:
Chromosome 9, tetrasomy 9p
Czasopismo naukowe
Szczegóły
Tytuł:
Multifocal mild malformation of cortical development with oligodendroglial hyperplasia (MOGHE) associated with SLC35A2 brain mosaicism.
Autorzy:
Xu S; Department of Pathology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Xu J; Department of Pathology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China. Electronic address: .
Chen C; Department of Neurology and Epilepsy Center, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Ye L; Department of Neurology and Epilepsy Center, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Wang S; Department of Neurology and Epilepsy Center, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China. Electronic address: .
Miao P; Department of Pediatric, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Zhu J; Department of Neurosurgery and Epilepsy Center, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
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Źródło:
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology [Clin Neurophysiol] 2023 Jan; Vol. 145, pp. 22-25. Date of Electronic Publication: 2022 Nov 07.
Typ publikacji:
Letter; Research Support, Non-U.S. Gov't
MeSH Terms:
Mosaicism*
Malformations of Cortical Development*/pathology
Humans ; Hyperplasia/pathology ; Oligodendroglia/pathology ; Brain/diagnostic imaging ; Brain/pathology ; Head
Raport
Szczegóły
Tytuł:
Trisomy 12p mosaicism syndrome in a patient with hypopigmented cutaneous mosaicism and three cell lines in peripheral blood.
Autorzy:
Porcar Saura S; Department of Dermatology, Clinical University Hospital, University of Valencia, Valencia, Spain.
Díaz Giménez M; Department of Genetics, Clinical University Hospital, University of Valencia, Valencia, Spain.
Guillén-Climent S; Department of Dermatology, Clinical University Hospital, University of Valencia, Valencia, Spain.
Villar C; Deparment of Pediatrics, Clinical University Hospital, University of Valencia, Valencia, Spain.
Ruiz Quilez A; Department of Genetics, Clinical University Hospital, University of Valencia, Valencia, Spain.
Abellán Sanchez MR; Department of Genetics, Clinical University Hospital, University of Valencia, Valencia, Spain.
Cuesta Peredo A; Department of Genetics, Clinical University Hospital, University of Valencia, Valencia, Spain.
Martín JM; Department of Dermatology, Clinical University Hospital, University of Valencia, Valencia, Spain.
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Źródło:
Journal of the European Academy of Dermatology and Venereology : JEADV [J Eur Acad Dermatol Venereol] 2023 Jan; Vol. 37 (1), pp. e54-e58. Date of Electronic Publication: 2022 Aug 27.
Typ publikacji:
Letter
MeSH Terms:
Mosaicism*
Hypopigmentation*/genetics
Humans ; Trisomy/genetics ; Chromosomes, Human, Pair 12/genetics ; Cell Line
SCR Disease Name:
Chromosome 12, 12p trisomy
Opinia redakcyjna
Szczegóły
Tytuł:
To mask or not to mask mosaicism? The impact of reporting embryo mosaicism on reproductive potential.
Autorzy:
Armstrong A; Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, UCLA, 200 Medical Plaza Driveway Suite 220, CA, 90095, Los Angeles, USA. .
Miller J; CooperSurgical, 3 Regent St, Livingston, NJ, 07039, USA.
Quinn M; Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, Keck School of Medicine at University of Southern California, 2020 Zonal Avenue, IRD 534, CA, 90033, Los Angeles, USA.
Nguyen AV; Department of Urology, UCLA, 200 Medical Plaza Driveway Suite 140, CA, 90095, Los Angeles, USA.
Kwan L; Department of Urology, UCLA, 200 Medical Plaza Driveway Suite 140, CA, 90095, Los Angeles, USA.
Kroener L; Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, UCLA, 200 Medical Plaza Driveway Suite 220, CA, 90095, Los Angeles, USA.
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Źródło:
Journal of assisted reproduction and genetics [J Assist Reprod Genet] 2022 Sep; Vol. 39 (9), pp. 2035-2042. Date of Electronic Publication: 2022 Jul 20.
Typ publikacji:
Journal Article
MeSH Terms:
Mosaicism*
Preimplantation Diagnosis*
Adolescent ; Adult ; Aneuploidy ; Blastocyst/pathology ; Female ; Genetic Testing ; High-Throughput Nucleotide Sequencing ; Humans ; Live Birth ; Middle Aged ; Pregnancy ; Young Adult
Czasopismo naukowe
Szczegóły
Tytuł:
Factors influencing mosaicism: a retrospective analysis.
Autorzy:
Huang QX; Center of Reproductive Medicine, Department of Obstetrics and Gynecology, 900th Hospital of the Joint Logistics Team, Fuzhou Fujian, People's Republic of China.
Wang ZH; Laboratory of Basic Medicine, 900th Hospital of the Joint Logistics Team, Fuzhou Fujian, People's Republic of China.
Huang WJ; Center of Reproductive Medicine, Department of Obstetrics and Gynecology, 900th Hospital of the Joint Logistics Team, Fuzhou Fujian, People's Republic of China.
Mao LH; Center of Reproductive Medicine, Department of Obstetrics and Gynecology, 900th Hospital of the Joint Logistics Team, Fuzhou Fujian, People's Republic of China.
Lin CL; Center of Reproductive Medicine, Department of Obstetrics and Gynecology, 900th Hospital of the Joint Logistics Team, Fuzhou Fujian, People's Republic of China.
Chen GY; Center of Reproductive Medicine, Department of Obstetrics and Gynecology, 900th Hospital of the Joint Logistics Team, Fuzhou Fujian, People's Republic of China.
Wang CX; Center of Reproductive Medicine, Department of Obstetrics and Gynecology, 900th Hospital of the Joint Logistics Team, Fuzhou Fujian, People's Republic of China.
Chen ZB; Center of Reproductive Medicine, Department of Obstetrics and Gynecology, 900th Hospital of the Joint Logistics Team, Fuzhou Fujian, People's Republic of China.
Lin YL; Center of Reproductive Medicine, Department of Obstetrics and Gynecology, 900th Hospital of the Joint Logistics Team, Fuzhou Fujian, People's Republic of China.
He LY; Center of Reproductive Medicine, Department of Obstetrics and Gynecology, 900th Hospital of the Joint Logistics Team, Fuzhou Fujian, People's Republic of China.
Liu Y; Center of Reproductive Medicine, Department of Obstetrics and Gynecology, 900th Hospital of the Joint Logistics Team, Fuzhou Fujian, People's Republic of China. Electronic address: .
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Źródło:
Reproductive biomedicine online [Reprod Biomed Online] 2022 Sep; Vol. 45 (3), pp. 491-500. Date of Electronic Publication: 2022 May 06.
Typ publikacji:
Journal Article
MeSH Terms:
Mosaicism*
Preimplantation Diagnosis*/methods
Aneuploidy ; Blastocyst ; Female ; Fertilization in Vitro ; Genetic Testing/methods ; Humans ; Male ; Pregnancy ; Retrospective Studies ; Semen ; Semen Analysis
Czasopismo naukowe
Szczegóły
Tytuł:
Detection of mosaicism for 46,X,i(Y) (q10) in the blood lymphocytes in a phenotypically normal male neonate with prenatally detected 45,X/46, XY at amniocentesis and cytogenetic discrepancy in various tissues.
Autorzy:
Chen CP; Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Medical Laboratory Science and Biotechnology, Asia University, Taichung, Taiwan. Electronic address: cpc_.
Chern SR; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Chen SW; Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
Wu FT; Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
Lee CC; Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
Chen WL; Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
Chen YY; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Wang W; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
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Źródło:
Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2022 Sep; Vol. 61 (5), pp. 873-875.
Typ publikacji:
Case Reports
MeSH Terms:
Amniocentesis*
Mosaicism*
Comparative Genomic Hybridization ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Lymphocytes ; Male ; Pregnancy ; Prenatal Diagnosis
Raport
Szczegóły
Wyświetlanie 1-20 z 18205

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