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Wyszukujesz frazę ""Comparative Genomic Hybridization"" wg kryterium: Temat


Tytuł :
Microarray-based comparative genomic hybridisation reveals additional recurrent aberrations in adult patients evaluated for myelodysplastic syndrome with normal karyotype.
Autorzy :
Ouahchi I; Department of Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.
Zhang L; Department of Oncology, University Children's Hospital Zurich, Zurich, Switzerland.
Benitez Brito R; Department of Oncology, University Children's Hospital Zurich, Zurich, Switzerland.
Benz R; Department of Internal Medicine, Division of Haematology, Cantonal Hospital Muensterlingen, Muensterlingen, Switzerland.
Müller R; Haematology Clinic, University Hospital Zurich, Zurich, Switzerland.
Bonadies N; Department of Haematology and Central Haematology Laboratory, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Tchinda J; Department of Oncology, University Children's Hospital Zurich, Zurich, Switzerland.
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Źródło :
British journal of haematology [Br J Haematol] 2019 Jan; Vol. 184 (2), pp. 282-287. Date of Electronic Publication: 2018 Jan 09.
Typ publikacji :
Letter
MeSH Terms :
Chromosome Aberrations*
Comparative Genomic Hybridization*
Oligonucleotide Array Sequence Analysis*
Myelodysplastic Syndromes/*genetics
Adult ; Aged ; Aged, 80 and over ; Female ; Humans ; Male ; Middle Aged ; Myelodysplastic Syndromes/pathology ; Myelodysplastic Syndromes/therapy
Opinia redakcyjna
Tytuł :
Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease.
Autorzy :
Pillai NR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.
Yubero D; Department of Genetics and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu and CIBERER (ISCIII), Hospital Sant Joan de Déu, Barcelona, Spain.
Shayota BJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.
Oyarzábal A; Laboratory of Synaptic Metabolism, Institut de Recerca Sant Joan de Déu and CIBERER (ISCIII), Hospital Sant Joan de Déu, Barcelona, Spain.
Ghosh R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Baylor Genetics Laboratory, Houston, Texas.
Sun Q; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Baylor Genetics Laboratory, Houston, Texas.
Azamian MS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.
Arjona C; Department of Genetics and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu and CIBERER (ISCIII), Hospital Sant Joan de Déu, Barcelona, Spain.
Brandi N; Department of Genetics and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu and CIBERER (ISCIII), Hospital Sant Joan de Déu, Barcelona, Spain.; School of Medicine, Universitat de Barcelona, Barcelona, Spain.
Palau F; Department of Genetics and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu and CIBERER (ISCIII), Hospital Sant Joan de Déu, Barcelona, Spain.; Division of Pediatrics, University of Barcelona School of Medicine and Health Sciences, and Institute of Medicine and Dermatology, Hospital Clínic, Barcelona, Spain.
Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.
Artuch R; Department of Clinical Biochemistry, Institut de Recerca Sant Joan de Déu and CIBERER (ISCIII), Hospital Sant Joan de Déu, Barcelona, Spain.
García-Cazorla A; Laboratory of Synaptic Metabolism, Institut de Recerca Sant Joan de Déu and CIBERER (ISCIII), Hospital Sant Joan de Déu, Barcelona, Spain.; Neurometabolic Unit, Department of Neurology, Institut de Recerca, Sant Joan de Déu metabERN and CIBERER (ISCIII), Hospital Sant Joan de Déu, Barcelona, Spain.
Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas.
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Źródło :
American journal of medical genetics. Part A 2019 Dec; Vol. 179 (12), pp. 2459-2468. Date of Electronic Publication: 2019 Sep 13.
Typ publikacji :
Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Gene Deletion*
Loss of Function Mutation*
Phenotype*
Hartnup Disease/*diagnosis
Hartnup Disease/*genetics
Membrane Glycoproteins/*genetics
Mental Disorders/*diagnosis
Mental Disorders/*genetics
Alleles ; Amino Acid Substitution ; Animals ; Child ; Comparative Genomic Hybridization ; DNA Copy Number Variations ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Male ; Mice ; Young Adult
Czasopismo naukowe
Tytuł :
Duplication 2p16 is associated with perisylvian polymicrogyria.
Autorzy :
Amrom D; Neurogenetics Unit, Montreal Neurological Institute and Hospital, Montreal, Quebec, Canada.; Department of Neurology & Neurosurgery, McGill University, Montreal, Quebec, Canada.; Department of Neurology, Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), Université Libre de Bruxelles (ULB), Brussels, Belgium.
Poduri A; Division of Epilepsy & Clinical Neurophysiology, Children's Hospital, Boston, Massachusetts.; Department of Neurology, Children's Hospital, Boston, Massachusetts.
Goldman JS; Ludmer Centre for Neuroinformatics and Mental Health and the Department of Biomedical Engineering, McGill Centre for Integrative Neuroscience, McGill University, Montreal, Quebec, Canada.
Dan B
Deconinck N
Pichon B; Department of Medical Genetics, Hôpital Erasme, Université Libre de Bruxelles (ULB), Brussels, Belgium.
Nadaf J; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.; Genome Quebec Innovation Center, McGill University, Montreal, Quebec, Canada.
Andermann F; Department of Neurology & Neurosurgery, McGill University, Montreal, Quebec, Canada.; Epilepsy Research Group, Montreal Neurological Institute and Hospital, Montreal, Quebec, Canada.; Department of Pediatrics, McGill University, Montreal, Quebec, Canada.
Andermann E; Neurogenetics Unit, Montreal Neurological Institute and Hospital, Montreal, Quebec, Canada.; Department of Neurology & Neurosurgery, McGill University, Montreal, Quebec, Canada.; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.; Epilepsy Research Group, Montreal Neurological Institute and Hospital, Montreal, Quebec, Canada.
Walsh CA; Department of Neurology, Children's Hospital, Boston, Massachusetts.; Division of Genetics and Manton Center for Orphan Disease Research, Children's Hospital, Boston, Massachusetts.; Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts.
Dobyns WB; Department of Pediatrics (Genetics) and Neurology, University of Washington, and Seattle Children's Research Institute, Seattle, Washington.
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Źródło :
American journal of medical genetics. Part A 2019 Dec; Vol. 179 (12), pp. 2343-2356. Date of Electronic Publication: 2019 Oct 29.
Typ publikacji :
Case Reports; Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Chromosome Duplication*
Chromosomes, Human, Pair 2*
Genetic Association Studies*
Genetic Predisposition to Disease*
Abnormalities, Multiple/*diagnosis
Abnormalities, Multiple/*genetics
Intellectual Disability/*diagnosis
Intellectual Disability/*genetics
Malformations of Cortical Development/*diagnosis
Malformations of Cortical Development/*genetics
Adolescent ; Brain/abnormalities ; Brain/diagnostic imaging ; Comparative Genomic Hybridization ; Computational Biology/methods ; Facies ; Female ; Humans ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Phenotype
SCR Disease Name :
Perisylvian syndrome
Czasopismo naukowe
Tytuł :
Establishment of an immortalized human subglottic epithelial cell line.
Autorzy :
Powell J; Department of Otolaryngology-Head and Neck Surgery, Freeman Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; Institute of Cellular Medicine, Newcastle upon Tyne, United Kingdom.
Verdon B; Institute for Cell and Molecular Biosciences, Newcastle upon Tyne, United Kingdom.
Wilson JA; Department of Otolaryngology-Head and Neck Surgery, Freeman Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; Institute of Health and Society, Newcastle University, Newcastle upon Tyne, United Kingdom.
Simpson AJ; Institute of Cellular Medicine, Newcastle upon Tyne, United Kingdom.
Pearson J; Institute for Cell and Molecular Biosciences, Newcastle upon Tyne, United Kingdom.
Ward C; Institute of Cellular Medicine, Newcastle upon Tyne, United Kingdom.
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Źródło :
The Laryngoscope [Laryngoscope] 2019 Nov; Vol. 129 (11), pp. 2640-2645. Date of Electronic Publication: 2019 Jan 08.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Epithelial Cells*
Cell Culture Techniques/*methods
Glottis/*cytology
Adult ; Cell Line ; Comparative Genomic Hybridization ; Humans ; Karyotyping ; Simian virus 40
Czasopismo naukowe
Tytuł :
A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins.
Autorzy :
Karolak JA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas.; Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, Poznan, Poland.
Bacolla A; Department of Cancer Biology, The University of Texas M.D. Anderson Cancer Center, Houston, Texas.; Department of Molecular and Cellular Oncology, The University of Texas M.D. Anderson Cancer Center, Houston, Texas.
Liu Q; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas.
Lantz PE; Department of Pathology, Wake Forest School of Medicine, Baptist Medical Center, Winston-Salem, North Carolina.
Petty J; Department of General Surgery, Wake Forest School of Medicine, Baptist Medical Center, Winston-Salem, North Carolina.
Trapane P; Department of Pediatrics, Division of Pediatric Genetics, University of Florida College of Medicine-Jacksonville, Jacksonville, Florida.
Panzer K; Department of Pediatrics, University of Iowa Stead Family Children's Hospital, Iowa City, Iowa.
Totapally BR; Department of Pediatrics, Florida International University, Nicklaus Children's Hospital, Miami, Florida.
Niu Z; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas.
Xiao R; Baylor Genetics, Houston, Texas.
Xie NG; Department of Bioengineering, Rice University, Houston, Texas.
Wu LR; Department of Bioengineering, Rice University, Houston, Texas.
Szafranski P; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas.
Zhang DY; Department of Bioengineering, Rice University, Houston, Texas.
Stankiewicz P; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas.
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Źródło :
American journal of medical genetics. Part A 2019 Nov; Vol. 179 (11), pp. 2272-2276. Date of Electronic Publication: 2019 Aug 22.
Typ publikacji :
Case Reports; Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Forkhead Transcription Factors/*genetics
Persistent Fetal Circulation Syndrome/*genetics
Pulmonary Alveoli/*abnormalities
Pulmonary Veins/*pathology
Comparative Genomic Hybridization ; CpG Islands/genetics ; Enhancer Elements, Genetic ; Female ; Frameshift Mutation/genetics ; Haploinsufficiency/genetics ; Heterozygote ; Humans ; INDEL Mutation/genetics ; Infant ; Infant, Newborn ; Male ; Persistent Fetal Circulation Syndrome/diagnostic imaging ; Persistent Fetal Circulation Syndrome/pathology ; Pulmonary Alveoli/diagnostic imaging ; Pulmonary Alveoli/pathology ; Pulmonary Veins/diagnostic imaging ; Sequence Deletion ; Tandem Repeat Sequences/genetics
SCR Disease Name :
Alveolar capillary dysplasia
Czasopismo naukowe
Tytuł :
Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experience.
Autorzy :
Yu A; School of Medicine, University of Texas Medical Branch, Galveston, Texas.
Turbiville D; School of Medicine, University of Texas Medical Branch, Galveston, Texas.
Xu F; Department of Pathology, University of Texas Medical Branch, Galveston, Texas.
Ray JW; Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas.
Britt AD; Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas.
Lupo PJ; Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas.
Jain SK; Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas.
Shattuck KE; Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas.
Robinson SS; Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas.
Dong J; Department of Pathology, University of Texas Medical Branch, Galveston, Texas.
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Źródło :
American journal of medical genetics. Part A 2019 Nov; Vol. 179 (11), pp. 2178-2189. Date of Electronic Publication: 2019 Sep 03.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Genetic Association Studies*/methods
Genetic Predisposition to Disease*
Abnormalities, Multiple/*diagnosis
Abnormalities, Multiple/*genetics
Chromosome Duplication/*genetics
DiGeorge Syndrome/*diagnosis
DiGeorge Syndrome/*genetics
Adult ; Biological Variation, Population ; Chromosome Aberrations ; Chromosomes, Human, Pair 22/genetics ; Comparative Genomic Hybridization ; Female ; Humans ; Infant ; Male ; Phenotype
SCR Disease Name :
Chromosome 22q11.2 Microduplication Syndrome
Czasopismo naukowe
Tytuł :
Next-generation sequencing for patients with non-obstructive azoospermia: implications for significant roles of monogenic/oligogenic mutations.
Autorzy :
Nakamura S; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.; Department of Pediatric Urology, Jichi Medical University, Children's Medical Center Tochigi, Tochigi, Japan.
Miyado M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Saito K; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.; Department of Comprehensive Reproductive Medicine, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan.
Katsumi M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.; Department of NCCHD Child Health and Development, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan.
Nakamura A; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Kobori Y; Department of Urology, Dokkyo Medical University Koshigaya Hospital, Koshigaya, Japan.
Tanaka Y; Department of Pediatrics, Tokyo Dental College Ichikawa General Hospital, Ichikawa, Japan.
Ishikawa H; Reproduction Center, Tokyo Dental College Ichikawa General Hospital, Ichikawa, Japan.
Yoshida A; Reproduction Center, Kiba Park Clinic, Tokyo, Japan.
Okada H; Department of Urology, Dokkyo Medical University Koshigaya Hospital, Koshigaya, Japan.
Hata K; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Nakabayashi K; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Okamura K; Department of Systems BioMedicine, National Research Institute for Child Health and Development, Tokyo, Japan.
Ogata H; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Matsubara Y; National Research Institute for Child Health and Development, Tokyo, Japan.
Ogata T; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Nakai H; Department of Pediatric Urology, Jichi Medical University, Children's Medical Center Tochigi, Tochigi, Japan.
Fukami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
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Źródło :
Andrology [Andrology] 2017 Jul; Vol. 5 (4), pp. 824-831.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Comparative Genomic Hybridization*
High-Throughput Nucleotide Sequencing*
Multifactorial Inheritance*
Mutation*
Polymorphism, Genetic*
Azoospermia/*genetics
DNA Mutational Analysis/*methods
Fertility/*genetics
Azoospermia/diagnosis ; Azoospermia/physiopathology ; Basic Helix-Loop-Helix Transcription Factors/genetics ; Chromosomal Proteins, Non-Histone/genetics ; Chromosomes, Human, X ; Chromosomes, Human, Y ; DNA Copy Number Variations ; Gene Dosage ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Japan ; Male ; Phenotype ; Predictive Value of Tests
SCR Disease Name :
Azoospermia, Nonobstructive
Czasopismo naukowe
Tytuł :
Familial aggregation of "apple peel" intestinal atresia and cardiac left-sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations.
Autorzy :
Digilio MC; Medical Genetics Unit, Medical Genetics Laboratory, Neonatal Surgery Unit, Neonatal Intensive Care Unit, Scientific Rectorate, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.
Magliozzi M; Medical Genetics Unit, Medical Genetics Laboratory, Neonatal Surgery Unit, Neonatal Intensive Care Unit, Scientific Rectorate, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.
Di Pede A; Medical Genetics Unit, Medical Genetics Laboratory, Neonatal Surgery Unit, Neonatal Intensive Care Unit, Scientific Rectorate, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.
Valfrè L; Medical Genetics Unit, Medical Genetics Laboratory, Neonatal Surgery Unit, Neonatal Intensive Care Unit, Scientific Rectorate, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.
Dentici ML; Medical Genetics Unit, Medical Genetics Laboratory, Neonatal Surgery Unit, Neonatal Intensive Care Unit, Scientific Rectorate, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.
Auriti C; Medical Genetics Unit, Medical Genetics Laboratory, Neonatal Surgery Unit, Neonatal Intensive Care Unit, Scientific Rectorate, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.
Marino B; Pediatric Cardiology, Department of Pediatrics, Sapienza University, Rome, Italy.
Novelli A; Medical Genetics Unit, Medical Genetics Laboratory, Neonatal Surgery Unit, Neonatal Intensive Care Unit, Scientific Rectorate, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.
Dallapiccola B; Medical Genetics Unit, Medical Genetics Laboratory, Neonatal Surgery Unit, Neonatal Intensive Care Unit, Scientific Rectorate, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.
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Źródło :
American journal of medical genetics. Part A 2019 Aug; Vol. 179 (8), pp. 1570-1574. Date of Electronic Publication: 2019 May 20.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Genetic Predisposition to Disease*
Mutation*
Cardiac Output, Low/*diagnosis
Cardiac Output, Low/*genetics
Intestinal Atresia/*diagnosis
Intestinal Atresia/*genetics
Intestine, Small/*abnormalities
Receptor, Notch1/*genetics
Alleles ; Comparative Genomic Hybridization ; Genetic Association Studies ; Genotype ; Humans ; Infant ; Pedigree
SCR Disease Name :
Atresia of small intestine
Czasopismo naukowe
Tytuł :
Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants.
Autorzy :
Kariminejad A; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.
Vahidnezhad H; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania.
Ghaderi-Sohi S; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.
Ghannadan AR; Department of Dermatopathology, Razi Dermatology Hospital, Tehran University of Medical Sciences, Tehran, Iran.; Department of Pathology, Cancer Institute, Imam Khomieni Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran.; Universal Scientific Education and Research Network (USERN), Tehran, Iran.
Youssefian L; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania.; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.; Genetics, Genomics and Cancer Biology PhD Program, Thomas Jefferson University, Philadelphia, Pennsylvania.
Parsimehr E; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.
Faraji Zonooz M; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.
Kariminejad MH; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.
Uitto J; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania.
Najmabadi H; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Hennekam RC; Department of Pediatrics, Amsterdam UMC, Amsterdam, The Netherlands.
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Źródło :
American journal of medical genetics. Part A 2019 Aug; Vol. 179 (8), pp. 1547-1555. Date of Electronic Publication: 2019 Jun 11.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Genetic Association Studies*
Genetic Variation*
Siblings*
Ectodermal Dysplasia/*diagnosis
Ectodermal Dysplasia/*genetics
Integrin beta4/*genetics
Plectin/*genetics
Autopsy ; Comparative Genomic Hybridization ; Consanguinity ; Female ; Genetic Predisposition to Disease ; Humans ; Male ; Pedigree ; Phenotype ; Radiography ; Sequence Analysis, DNA
Czasopismo naukowe
Tytuł :
Detection of a deletion at 22q11 locus involving ZNF280A/ZNF280B/PRAME/GGTLC2 in B-cell malignancies: simply a consequence of an immunoglobulin lambda light chain rearrangement.
Autorzy :
Mraz M; Molecular Medicine, CEITEC Masaryk University, Brno, Czech Republic.; Department of Internal Medicine, Haematology and Oncology, University Hospital Brno and Faculty of Medicine MU, Brno, Czech Republic.
Pospisilova S; Department of Internal Medicine, Haematology and Oncology, University Hospital Brno and Faculty of Medicine MU, Brno, Czech Republic.
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Źródło :
British journal of haematology [Br J Haematol] 2019 Aug; Vol. 186 (4), pp. e91-e94. Date of Electronic Publication: 2019 Apr 15.
Typ publikacji :
Letter; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 22*
Genetic Loci*
Leukemia, Lymphocytic, Chronic, B-Cell/*diagnosis
Leukemia, Lymphocytic, Chronic, B-Cell/*genetics
Antigens, Neoplasm/genetics ; Biomarkers, Tumor ; Comparative Genomic Hybridization ; Humans ; Immunoglobulin Light Chains/genetics ; Immunoglobulin lambda-Chains/genetics ; Repressor Proteins/genetics
Raport
Tytuł :
16q22.1 microdeletion and anticipatory guidance.
Autorzy :
Abdullah S; Undergraduate Medical Education, Queen's University School of Medicine, Kingston, Ontario, Canada.
Helal M; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
Dupuis L; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
Stavropoulos DJ; Department of Pediatric Laboratory Medicine, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
Louro P; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Ramos L; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Mendoza-Londono R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
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Źródło :
American journal of medical genetics. Part A 2019 Jul; Vol. 179 (7), pp. 1287-1292. Date of Electronic Publication: 2019 May 29.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 16*
Child, Preschool ; Comparative Genomic Hybridization ; Female ; Humans ; Infant ; Male ; Phenotype ; Syndrome
Czasopismo naukowe
Tytuł :
11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA.
Autorzy :
Conrad S; Service de Génétique Médicale, CHU Nantes, France.
Demurger F; Service de Génétique Médicale, CHBA Vannes, France.
Moradkhani K; Service de Génétique Médicale, CHU Nantes, France.
Pichon O; Service de Génétique Médicale, CHU Nantes, France.
Le Caignec C; Service de Génétique Médicale, CHU Nantes, France.; INSERM, CNRS, UNIV Nantes, l'Institut du Thorax, Nantes, France.
Pascal C; Service de Cardiologie pédiatrique et fœtale, Hôpital privé du Confluent, Nantes, France.
Thomas C; Service d'Hémato-oncologie pédiatrique, CHU Nantes, France.
Bayart S; Centre de traitement des maladies hémorragiques, CHU Rennes, France.
Perlat A; Service de Médecine Interne-Immunologie Clinique, CHU de Rennes, France.
Dubourg C; Service de Génétique Moléculaire et Génomique, CHU Rennes, France.; Univ Rennes, CNRS, IGDR (Institut de génétique et développement de Rennes), UMR 6290, Rennes, France.
Jaillard S; CHU Rennes, Service de Cytogénétique et Biologie Cellulaire, F-35033, Rennes, France.; INSERM U1085-IRSET, Université de Rennes 1, Rennes, France.
Nizon M; Service de Génétique Médicale, CHU Nantes, France.; INSERM, CNRS, UNIV Nantes, l'Institut du Thorax, Nantes, France.
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Źródło :
American journal of medical genetics. Part A 2019 Jun; Vol. 179 (6), pp. 993-1000. Date of Electronic Publication: 2019 Mar 19.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Genetic Association Studies*
Genetic Predisposition to Disease*
RNA, Long Noncoding*
Jacobsen Distal 11q Deletion Syndrome/*diagnosis
Jacobsen Distal 11q Deletion Syndrome/*genetics
Proto-Oncogene Protein c-ets-1/*genetics
Proto-Oncogene Protein c-fli-1/*genetics
Comparative Genomic Hybridization ; Facies ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics ; Karyotyping ; Male ; Pedigree ; Phenotype
Czasopismo naukowe
Tytuł :
Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP.
Autorzy :
Banka S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.
Sayer R; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.
Breen C; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.
Barton S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.
Pavaine J; Academic Unit of Paediatric Radiology, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK.; Division of Informatics, Imaging and Data Sciences, School of Health Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.
Sheppard SE; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Bedoukian E; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Skraban C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.
Cuddapah VA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Clayton-Smith J; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.
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Źródło :
American journal of medical genetics. Part A 2019 Jun; Vol. 179 (6), pp. 1058-1062. Date of Electronic Publication: 2019 Mar 20.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Exons*
Genetic Association Studies*/methods
Mutation, Missense*
Phenotype*
CREB-Binding Protein/*genetics
Child, Preschool ; Comparative Genomic Hybridization ; Facies ; Genotype ; Humans ; Magnetic Resonance Imaging ; Male ; Rubinstein-Taybi Syndrome/diagnosis ; Rubinstein-Taybi Syndrome/genetics ; Syndrome
Czasopismo naukowe
Tytuł :
The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature.
Autorzy :
Drivas TG; Clinical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Taylor JA; Division of Plastic and Reconstructive Surgery, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Zackai EH; Clinical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
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Źródło :
American journal of medical genetics. Part A 2019 Jun; Vol. 179 (6), pp. 1063-1068. Date of Electronic Publication: 2019 Mar 28.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Hand Deformities, Congenital/*diagnosis
Hand Deformities, Congenital/*genetics
Mandibulofacial Dysostosis/*diagnosis
Mandibulofacial Dysostosis/*genetics
Alleles ; Comparative Genomic Hybridization ; Exons ; Genotype ; High-Throughput Nucleotide Sequencing ; Humans ; Infant, Newborn ; Introns ; Male ; Mutation ; Phenotype ; Polymorphism, Single Nucleotide ; Radiography
SCR Disease Name :
Acrofacial dysostosis Rodriguez type
Czasopismo naukowe

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