المؤلفون: Fatima A; National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad 38000, Pakistan.; Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen, Denmark.; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi 74800, Pakistan., Abdullah U; National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad 38000, Pakistan.; Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen, Denmark.; University Institute of Biochemistry and Biotechnology (UIBB), PMAS-Arid Agriculture University Rawalpindi, Rawalpindi 46000, Pakistan., Farooq M; Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen, Denmark.; Department of Biotechnology, Institute of Biochemistry, Biotechnology and Bioinformatics (IBBB), The Islamia University of Bahawalpur, Bahawalpur 63100, Pakistan.; Department of Bioinformatics, Institute of Biochemistry, Biotechnology and Bioinformatics (IBBB), The Islamia University of Bahawalpur, Bahawalpur 63100, Pakistan., Mang Y; Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen, Denmark., Mehrjouy MM; Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen, Denmark., Asif M; National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad 38000, Pakistan.; Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany., Ali Z; Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen, Denmark.; Centre for Biotechnology and Microbiology, University of Swat, Mingora 19130, Pakistan., Tommerup N; Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen, Denmark., Baig SM; National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad 38000, Pakistan.; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi 74800, Pakistan.

المصدر: Genes [Genes (Basel)] 2021 Nov 26; Vol. 12 (12). Date of Electronic Publication: 2021 Nov 26.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease/*genetics , Genetic Variation/*genetics , Glutamic Acid/*genetics , Schizophrenia/*genetics , Signal Transduction/*genetics , Synaptic Transmission/*genetics, Adult ; Exome/genetics ; Female ; Genome-Wide Association Study/methods ; Humans ; Male ; Middle Aged ; Pakistan ; Pedigree ; Penetrance

المؤلفون: Byrjalsen A; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Hansen TVO; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Stoltze UK; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Mehrjouy MM; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Barnkob NM; Department of Health Technology, Technical University of Denmark, Copenhagen, Denmark., Hjalgrim LL; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Mathiasen R; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Lautrup CK; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark., Gregersen PA; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Hasle H; Department of Paediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark., Wehner PS; Department of Paediatric Hematology and Oncology, H. C. Andersen Children's Hospital, Odense University Hospital, Odense, Denmark., Tuckuviene R; Department of Paediatrics and Adolescent Medicine, Aalborg University Hospital, Aalborg, Denmark., Sackett PW; Department of Health Technology, Technical University of Denmark, Copenhagen, Denmark., Laspiur AO; Department of Health Technology, Technical University of Denmark, Copenhagen, Denmark., Rossing M; Center for Genomic Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Marvig RL; Center for Genomic Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Tommerup N; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark., Olsen TE; Department of Pathology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Scheie D; Department of Pathology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Gupta R; Department of Health Technology, Technical University of Denmark, Copenhagen, Denmark., Gerdes AM; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Schmiegelow K; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Institute of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Wadt K; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.

المصدر: PLoS genetics [PLoS Genet] 2020 Dec 17; Vol. 16 (12), pp. e1009231. Date of Electronic Publication: 2020 Dec 17 (Print Publication: 2020).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

مواضيع طبية MeSH: Germ-Line Mutation*, Genetic Testing/*statistics & numerical data , Neoplastic Syndromes, Hereditary/*epidemiology , Whole Genome Sequencing/*statistics & numerical data, Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Incidence ; Infant ; Male ; Mutation Rate ; Neoplastic Syndromes, Hereditary/genetics

المؤلفون: Bache I; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark. ibache@sund.ku.dk.; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark. ibache@sund.ku.dk., Wadt K; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Mehrjouy MM; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.; Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Rossing M; Centre for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Østrup O; Centre for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Byrjalsen A; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Tommerup N; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark., Metzner M; MRC MHU, BRC Hematology Theme, Oxford Biomedical Research Centre, Oxford Centre for Haematology, WIMM, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Vyas P; MRC MHU, BRC Hematology Theme, Oxford Biomedical Research Centre, Oxford Centre for Haematology, WIMM, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; Department of Haematology, Oxford University Hospitals NHS Trust, Oxford, UK., Schmiegelow K; Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Institute for Clinical Medicine, Faculty of Medicine, University of Copenhagen, Copenhagen, Denmark., Lausen B; Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Andersen MK; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

المصدر: Blood cancer journal [Blood Cancer J] 2020 Mar 03; Vol. 10 (3), pp. 27. Date of Electronic Publication: 2020 Mar 03.

نوع المنشور: Letter; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: United States NLM ID: 101568469 Publication Model: Electronic Cited Medium: Internet ISSN: 2044-5385 (Electronic) Linking ISSN: 20445385 NLM ISO Abbreviation: Blood Cancer J Subsets: MEDLINE

مواضيع طبية MeSH: Down Syndrome/*genetics , Homeodomain Proteins/*metabolism , Leukemia, Megakaryoblastic, Acute/*genetics , Repressor Proteins/*metabolism , Transcription Factors/*metabolism , Translocation, Genetic/*genetics, Female ; Humans ; Male ; Twins, Monozygotic

المؤلفون: Nazaryan-Petersen L; Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark., Oliveira IR; Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.; Department of Regulation and Evaluation of Medicines and Health products, Faculty of Pharmacy, University of Lisbon, Lisbon, Portugal., Mehrjouy MM; Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark., Mendez JMM; Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark., Bak M; Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Bugge M; Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark., Kalscheuer VM; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany., Bache I; Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Hancks DC; Department of Immunology, The University of Texas Southwestern Medical Center, Dallas, Texas., Tommerup N; Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.

المصدر: Human mutation [Hum Mutat] 2019 Aug; Vol. 40 (8), pp. 1057-1062. Date of Electronic Publication: 2019 May 14.

نوع المنشور: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Chromothripsis* , Germ-Line Mutation*, Membrane Glycoproteins/*genetics , Mobius Syndrome/*genetics , Semaphorins/*genetics, Chromosome Breakpoints ; Fatal Outcome ; Gene Rearrangement ; High-Throughput Nucleotide Sequencing ; Humans ; Intracellular Signaling Peptides and Proteins/genetics ; Male ; Middle Aged ; Semaphorin-3A/genetics

المؤلفون: Fjorder AS; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N, 2200, Denmark., Rasmussen MB; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N, 2200, Denmark.; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen O, 2100, Denmark., Mehrjouy MM; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N, 2200, Denmark., Nazaryan-Petersen L; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N, 2200, Denmark., Hansen C; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N, 2200, Denmark., Bak M; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N, 2200, Denmark.; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen O, 2100, Denmark., Grarup N; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, 2200, Denmark., Nørremølle A; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N, 2200, Denmark., Larsen LA; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N, 2200, Denmark., Vestergaard H; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, 2200, Denmark.; Steno Diabetes Center Copenhagen, Gentofte, 2820, Denmark., Hansen T; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, 2200, Denmark., Tommerup N; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N, 2200, Denmark., Bache I; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N, 2200, Denmark. ibache@sund.ku.dk.; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen O, 2100, Denmark. ibache@sund.ku.dk.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2019 Aug; Vol. 27 (8), pp. 1296-1303. Date of Electronic Publication: 2019 Mar 21.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Haploinsufficiency*, GTPase-Activating Proteins/*genetics , Genetic Predisposition to Disease/*genetics , Hypertension/*genetics, Adult ; Aged ; Chromosomes, Human, Pair 11/genetics ; Chromosomes, Human, Pair 18/genetics ; Denmark ; Female ; GTPase-Activating Proteins/blood ; Gene Expression ; Genome-Wide Association Study/methods ; Humans ; Hypertension/blood ; Male ; Middle Aged ; Obesity/genetics ; Pedigree ; Translocation, Genetic ; Young Adult

المؤلفون: Midro AT; Department of Clinical Genetics, Medical University of Białystok, Białystok, Poland., Tommerup N; Wilhelm Johannsen Centre for Functional Genome Research Department of Cellular and Molecular Medicine (ICMM), University of Copenhagen, Copenhagen, Denmark., Borys J; Clinic of Maxillo-Facial Surgery, Medical University, Białystok, Poland., Panasiuk B; Department of Clinical Genetics, Medical University of Białystok, Białystok, Poland., Kosztyła-Hojna B; Department of Phonoaudiology and Logopedics, Medical University, Białystok, Poland., Zalewska R; Department of Ophthalmology, Medical University, Białystok, Poland., Konstantynowicz J; Department of Pediatrics, Rheumatology, Immunology and Metabolic Bone Diseases, Medical University, Białystok, Poland., Łebkowska U; Department of Radiology, Medical University, Białystok, Poland., Cooper L; Baylor Genetics, Baylor College of Medicine, Houston, Texas, USA., Scherer SE; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Mehrjouy MM; Wilhelm Johannsen Centre for Functional Genome Research Department of Cellular and Molecular Medicine (ICMM), University of Copenhagen, Copenhagen, Denmark., Liu Q; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Skowroński R; Department of Orthopedics and Traumatology, Medical University of Białystok, Białystok, Poland., Stankiewicz P; Baylor Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

المصدر: Clinical genetics [Clin Genet] 2019 Apr; Vol. 95 (4), pp. 534-536. Date of Electronic Publication: 2019 Jan 11.

نوع المنشور: Case Reports; Letter; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: Facies* , Phenotype*, Abnormalities, Multiple/*diagnosis , Abnormalities, Multiple/*genetics , Neurodevelopmental Disorders/*diagnosis , Neurodevelopmental Disorders/*genetics , Silver-Russell Syndrome/*diagnosis, Adult ; Diagnosis, Differential ; Humans ; Male ; Musculoskeletal Abnormalities/diagnosis ; Musculoskeletal Abnormalities/genetics ; Radiography ; Syndrome

المؤلفون: Aristidou C; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.; The Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Theodosiou A; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Bak M; Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N., Denmark., Mehrjouy MM; Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N., Denmark., Constantinou E; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Alexandrou A; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Papaevripidou I; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Christophidou-Anastasiadou V; Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics and Archbishop Makarios III Medical Centre, Nicosia, Cyprus., Skordis N; Division of Pediatric Endocrinology, Paedi Center for Specialized Pediatrics, Nicosia, Cyprus.; St George's University of London Medical School at the University of Nicosia, Nicosia, Cyprus., Kitsiou-Tzeli S; Department of Medical Genetics, Medical School, University of Athens, Athens, Greece., Tommerup N; Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N., Denmark., Sismani C; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.; The Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

المصدر: PloS one [PLoS One] 2018 Oct 05; Vol. 13 (10), pp. e0205298. Date of Electronic Publication: 2018 Oct 05 (Print Publication: 2018).

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

مواضيع طبية MeSH: Facies* , Translocation, Genetic*, Hearing Loss/*genetics , Intellectual Disability/*genetics , Language Development Disorders/*genetics, Base Sequence ; Chromosome Breakpoints ; Female ; Gene Expression ; Hearing Loss/diagnosis ; Hearing Loss/physiopathology ; Humans ; Intellectual Disability/diagnosis ; Intellectual Disability/physiopathology ; Karyotype ; Language Development Disorders/diagnosis ; Language Development Disorders/physiopathology ; NFI Transcription Factors/deficiency ; NFI Transcription Factors/genetics ; POU Domain Factors/deficiency ; POU Domain Factors/genetics ; Phenotype ; SOXD Transcription Factors/deficiency ; SOXD Transcription Factors/genetics ; Whole Genome Sequencing

المؤلفون: Bonaglia MC; Cytogenetics Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy. clara.bonaglia@bp.lnf.it., Kurtas NE; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Errichiello E; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Bertuzzo S; Cytogenetics Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy., Beri S; Cytogenetics Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy., Mehrjouy MM; Department of Cellular and Molecular Medicine (ICMM), University of Copenhagen, Copenhagen, Denmark., Provenzano A; Medical Genetics Section, Department of Clinical Pathophysiology, University of Florence, Florence, Italy., Vergani D; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Pecile V; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy., Novara F; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Reho P; Medical Genetics Section, Department of Clinical Pathophysiology, University of Florence, Florence, Italy., Di Giacomo MC; Laboratorio di Citogenetica U.O.C. Anatomia Patologica AOR Ospedale San Carlo, Potenza, Italy., Discepoli G; Laboratorio di Genetica Medica-SOD Clinica Pediatrica, Azienda Ospedaliero-Universitaria Ospedali Riuniti, Ancona, Italy., Giorda R; Molecular Biology Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy., Aldred MA; Department of Genetics, Case Western Reserve University School of Medicine, Cleveland, USA., Santos-Rebouças CB; Department of Genetics, State University of Rio de Janeiro, Rio de Janeiro, Brazil., Goncalves AP; Department of Genetics, State University of Rio de Janeiro, Rio de Janeiro, Brazil., Abuelo DN; Warren Alpert School of Medicine of Brown University, Providence, RI, 02903, USA., Giglio S; Medical Genetics Section, Department of Clinical Pathophysiology, University of Florence, Florence, Italy., Ricca I; IRCCS Fondazione Stella Maris, Pisa, Italy., Franchi F; Medical Genetics Laboratory, Azienda Ospedaliera di Reggio Emilia, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy., Patsalis P; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Sismani C; Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Morí MA; Section of Functional and Structural Genomics Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain., Nevado J; Section of Functional and Structural Genomics Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain., Tommerup N; Department of Cellular and Molecular Medicine (ICMM), University of Copenhagen, Copenhagen, Denmark., Zuffardi O; Department of Molecular Medicine, University of Pavia, Pavia, Italy. orsetta.zuffardi@unipv.it.

المصدر: Human genetics [Hum Genet] 2018 Oct; Vol. 137 (10), pp. 817-829. Date of Electronic Publication: 2018 Oct 01.

نوع المنشور: Clinical Trial; Journal Article

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: DNA End-Joining Repair* , Meiosis* , Recombinational DNA Repair*, Translocation, Genetic/*genetics, Female ; Humans ; Male

المؤلفون: Halgren C; Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark., Nielsen NM; Department of Epidemiology Research, Statens Serum Institut, 2300 Copenhagen S, Denmark., Nazaryan-Petersen L; Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark., Silahtaroglu A; Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark., Collins RL; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Bioinformatics and Integrative Genomics, Harvard Medical School, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA 02142, USA., Lowther C; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Harvard Medical School, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA 02142, USA., Kjaergaard S; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen O, Denmark., Frisch M; Department of Epidemiology Research, Statens Serum Institut, 2300 Copenhagen S, Denmark., Kirchhoff M; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen O, Denmark., Brøndum-Nielsen K; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2600 Glostrup, Denmark., Lind-Thomsen A; Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark., Mang Y; Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark., El-Schich Z; Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark., Boring CA; Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark., Mehrjouy MM; Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark., Jensen PKA; Department of Clinical Genetics, Århus University Hospital, 8200 Århus N, Denmark., Fagerberg C; Department of Clinical Genetics, Odense University Hospital, 5000 Odense C, Denmark; Department of Clinical Genetics, Vejle Hospital at Hospital Lillebaelt, 7100 Vejle, Denmark., Krogh LN; Department of Clinical Genetics, Odense University Hospital, 5000 Odense C, Denmark., Hansen J; Danish Cytogenetic Central Register, Department of Clinical Genetics, Århus University Hospital, 8200 Århus N, Denmark., Bryndorf T; Gynaecological Clinic, Ny Oestergade 10, 3tv, 1101 Copenhagen K, Denmark., Hansen C; Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark., Talkowski ME; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Bioinformatics and Integrative Genomics, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA 02142, USA., Bak M; Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen O, Denmark., Tommerup N; Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark., Bache I; Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen O, Denmark. Electronic address: ibache@sund.ku.dk.

المصدر: American journal of human genetics [Am J Hum Genet] 2018 Jun 07; Vol. 102 (6), pp. 1090-1103. Date of Electronic Publication: 2018 May 24.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Aberrations*, Prenatal Diagnosis/*methods, Chromosome Breakpoints ; Cohort Studies ; Conserved Sequence/genetics ; Evolution, Molecular ; Female ; Genome, Human ; Humans ; Karyotyping ; Pregnancy ; RNA, Long Noncoding/genetics ; Risk Factors ; Sequence Analysis, DNA ; Time Factors

المؤلفون: Aristidou C; 1Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.; 2The Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Theodosiou A; 1Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Ketoni A; 1Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Bak M; 3Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark., Mehrjouy MM; 3Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark., Tommerup N; 3Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark., Sismani C; 1Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.; 2The Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

المصدر: Molecular cytogenetics [Mol Cytogenet] 2018 Jun 07; Vol. 11, pp. 34. Date of Electronic Publication: 2018 Jun 07 (Print Publication: 2018).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101317942 Publication Model: eCollection Cited Medium: Print ISSN: 1755-8166 (Print) Linking ISSN: 17558166 NLM ISO Abbreviation: Mol Cytogenet Subsets: PubMed not MEDLINE