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1
المؤلفون: Lauren Bellfy, Mallory Ryan, Mauro Longoni, Charles Lee, M. P. Joy, Patricia K. Donahoe, Chengsheng Zhang, Pooja Bhayani, Meaghan K. Russell, Eliza Cerveira, Caroline Coletti, Adam Mil-homens, Regis Hila, Qihui Zhu, Jay M. Wilson, Frances A. High
المصدر: Proceedings of the National Academy of Sciences of the United States of America
مصطلحات موضوعية: Genetic Markers, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Candidate gene, DNA Copy Number Variations, endocrine system diseases, CNV, Biology, Polymorphism, Single Nucleotide, congenital diaphragmatic hernia, 03 medical and health sciences, customized array, mental disorders, Genetics, medicine, Humans, copy number variant, Copy-number variation, Gene, Comparative Genomic Hybridization, Multidisciplinary, Case-control study, Congenital diaphragmatic hernia, Biological Sciences, Prognosis, HNF1B, medicine.disease, Hypoplasia, birth defects, 030104 developmental biology, Case-Control Studies, Hernias, Diaphragmatic, Congenital, Comparative genomic hybridization
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2Academic Journal
المؤلفون: Chromosome Paternal Isodisomy, Sibel Kantarci, Nicola K. Ragge, N. Simon Thomas, David O. Robinson, Kristin M. Noonan, Meaghan K. Russell, Dian Donnai, F. Lucy Raymond, Christopher A. Walsh, Patricia K. Donahoe, Barbara R. Pober
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.501.5069; http://www.walshlab.org/pdf/Donnai-Barrow_syndromw.pdf
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3
المؤلفون: Charles Kai-Wu Lee, Adam Tracy, Meaghan K. Russell, Julie Wells, Kate G. Ackerman, Alireza Kashani, Frances A. High, Carol J. Bult, Caroline Coletti, Kasper Lage, Barbara R. Pober, Patricia K. Donahoe, Mauro Longoni, Regis Hila, Ahmed Shamia, Jay M. Wilson
المصدر: Proceedings of the National Academy of Sciences. 111:12450-12455
مصطلحات موضوعية: Candidate gene, DNA Copy Number Variations, Diaphragm, Biology, Bioinformatics, Cohort Studies, Mice, Genetic variation, medicine, Animals, Humans, Exome, Protein Interaction Maps, Copy-number variation, Gene, Exome sequencing, Genetics, Multidisciplinary, Computational Biology, Genetic Variation, Congenital diaphragmatic hernia, Biological Sciences, medicine.disease, Phenotype, Hernias, Diaphragmatic, Congenital
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4
المؤلفون: Alireza Kashani, S A Woods, Kasper Lage, Faouzi I. Maalouf, Mauro Longoni, Frances A. High, D Andrews, C Ward-Melver, Charles Lee, Caroline Coletti, Patricia K. Donahoe, Katayoon Darvishi, Maria Loscertales, Adam Tracy, Barbara R. Pober, Meaghan K. Russell, Kate G. Ackerman
المصدر: Clinical Genetics. 87:362-367
مصطلحات موضوعية: Genetics, Mutation, Genetic counseling, Point mutation, Congenital diaphragmatic hernia, Biology, Bioinformatics, medicine.disease_cause, medicine.disease, Penetrance, Frameshift mutation, medicine, Exome, Genetics (clinical), Exome sequencing
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5
المؤلفون: Barbara R. Pober, Kate G. Ackerman, Patricia K. Donahoe, Julie Wells, Meaghan K. Russell, Maria Loscertales, Faouzi I. Maalouf, Carol J. Bult, Adam Tracy, Kasper Lage, Mauro Longoni
المصدر: Proceedings of the National Academy of Sciences. 109:2978-2983
مصطلحات موضوعية: Candidate gene, Time Factors, Transcription, Genetic, Diaphragm, Biology, Models, Biological, Mesoderm, Mice, medicine, Animals, Gene, Genetic Association Studies, Hernia, Diaphragmatic, Homeodomain Proteins, Mice, Knockout, Genetics, Regulation of gene expression, Multidisciplinary, Genetic heterogeneity, Lasers, Pre-B-Cell Leukemia Transcription Factor 1, Gene Expression Regulation, Developmental, Congenital diaphragmatic hernia, Biological Sciences, Embryo, Mammalian, Disease gene identification, medicine.disease, Phenotype, Gene expression profiling, Hernias, Diaphragmatic, Congenital, Transcriptome, Signal Transduction, Transcription Factors
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6
المؤلفون: Dian Donnai, N. Simon Thomas, Patricia K. Donahoe, Sibel Kantarci, F. Lucy Raymond, Nicola K. Ragge, Meaghan K. Russell, Barbara R. Pober, Christopher A. Walsh, Kristin M. Noonan, David O. Robinson
المصدر: American Journal of Medical Genetics Part A. :1842-1847
مصطلحات موضوعية: Adult, Male, Hearing Loss, Sensorineural, Genetic counseling, Hernia, Inguinal, Biology, Article, Myopia, Genetics, medicine, Humans, Abnormalities, Multiple, Hypertelorism, Allele, Child, Genetics (clinical), Encephalocele, Sequence Deletion, Base Sequence, Homozygote, Chromosome, DNA, Syndrome, Donnai–Barrow syndrome, Uniparental Disomy, medicine.disease, Uniparental disomy, Pedigree, Low Density Lipoprotein Receptor-Related Protein-2, Proteinuria, Uniparental Isodisomy, Chromosomes, Human, Pair 2, Mutation, Female, Agenesis of Corpus Callosum, medicine.symptom, Genomic imprinting
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7
المؤلفون: Meaghan K. Russell, Tamer Alpagot, Alice M. Lee, Jamie L. Galvin, Susan K. Boches, Bruce J. Paster, Floyd E. Dewhirst
المصدر: Annals of Periodontology. 7:8-16
مصطلحات موضوعية: Adult, DNA, Bacterial, Male, Sequence analysis, Dental Plaque, medicine.disease_cause, Microbiology, law.invention, Gingivitis, law, RNA, Ribosomal, 16S, HIV Seropositivity, medicine, Humans, Escherichia coli, Polymerase chain reaction, Oligonucleotide Array Sequence Analysis, Periodontitis, business.industry, Sequence Analysis, DNA, General Medicine, Ribosomal RNA, medicine.disease, 16S ribosomal RNA, Chronic periodontitis, Bacterial Typing Techniques, Gingivitis, Necrotizing Ulcerative, Female, medicine.symptom, business
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8
المؤلفون: Mauro Longoni, Meaghan K. Russell, Barbara R. Pober
المصدر: eLS
مصطلحات موضوعية: Genetics, medicine.medical_specialty, Anophthalmia, Genetic heterogeneity, Congenital diaphragmatic hernia, Biology, medicine.disease, Bioinformatics, Microphthalmia, Spondylocostal dysostosis, Molecular genetics, medicine, biology.protein, Multifactorial Inheritance, Sonic hedgehog
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9
المؤلفون: Mauro Longoni, Shelagh Joss, Katrina Prescott, Ihab Sakr Shaheen, Meaghan K. Russell, Eric Finlay
المصدر: Clinical Dysmorphology. 19:35-37
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Hernia, Craniofacial abnormality, Hearing loss, Pathology and Forensic Medicine, Craniofacial Abnormalities, Focal segmental glomerulosclerosis, Female patient, medicine, Humans, Eye Abnormalities, Child, Hearing Loss, Genetics (clinical), Proteinuria, Glomerulosclerosis, Focal Segmental, business.industry, Syndrome, General Medicine, Donnai–Barrow syndrome, medicine.disease, Eye abnormality, Low Density Lipoprotein Receptor-Related Protein-2, Phenotype, Karyotyping, Pediatrics, Perinatology and Child Health, Female, Agenesis of Corpus Callosum, Anatomy, medicine.symptom, business
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10
المؤلفون: Alan F. Rope, Jeroen Breckpot, Osamu Shimokawa, Ji H. Park, Steven B. Bleyl, Adam Tracy, Faouzi I. Maalouf, Elaine H. Zackai, Chih P. Chen, Dagmar Wieczorek, Kasper Lage, Caroline Coletti, Mauro Longoni, Maria Loscertales, Patricia K. Donahoe, Omar A. Abdul-Rahman, Paul Brady, Gabriele Gillessen-Kaesbach, Koenraad Devriendt, Kristin M. Noonan, Arthur Grix, Charles Lee, Barbara R. Pober, Gareth Baynam, Bernarda Strauss, Meaghan K. Russell
المصدر: American journal of medical genetics. Part A. (12)
مصطلحات موضوعية: Heart malformation, Medizin, CNVConnect, HEART-DEFECTS, congenital diaphragmatic hernia, CANDIDATE GENES, DNA Glycosylases, Mice, Pregnancy, Gene duplication, DNA-(Apurinic or Apyrimidinic Site) Lyase, SOXF Transcription Factors, COMPARATIVE GENOMIC HYBRIDIZATION, Diaphragmatic hernia, MOLECULAR CHARACTERIZATION, CARDIAC DEVELOPMENT, Protein Interaction Maps, Genetics (clinical), Genetics & Heredity, Genetics, GATA4, Phenotype, duplication 8p23 1, DNA copy number variants, NEIL2, Female, Chromosome Deletion, SOX7, Life Sciences & Biomedicine, Chromosomes, Human, Pair 8, Heart Defects, Congenital, MICRODELETION SYNDROME, Diaphragmatic breathing, Biology, Article, congenital heart defect, GATA TRANSCRIPTION FACTORS, Gene interaction, medicine, Animals, Humans, PRENATAL-DIAGNOSIS, Hernia, Diaphragmatic, Science & Technology, Congenital diaphragmatic hernia, DNA, medicine.disease, GATA4 Transcription Factor, Mice, Inbred C57BL, Karyotyping, SEPTAL-DEFECTS, deletion 8p23 1, Hernias, Diaphragmatic, Congenital, ARRAY-CGH
وصف الملف: Print-Electronic
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11
المؤلفون: Kristin M. Noonan, Rafael Pieretti Vanmarcke, Sibel Kantarci, Xiaoyun Zhang, Paul S. Dickman, Carrie Sougnez, Mauro Longoni, Meaghan K. Russell, Eli Hatchwell, Kate G. Ackerman, Jay M. Wilson, Kwame Anyane-Yeboa, Barbara R. Pober, Patricia K. Donahoe
مصطلحات موضوعية: Male, Candidate gene, Biology, Article, Congenital Abnormalities, Fryns syndrome, Genetics, medicine, Humans, Hedgehog Proteins, Multiplex ligation-dependent probe amplification, Child, Lung, Genetics (clinical), In Situ Hybridization, Fluorescence, DNA Primers, Sequence Deletion, Hernia, Diaphragmatic, Informed Consent, Mosaicism, Point mutation, Infant, Newborn, Chromosome, Congenital diaphragmatic hernia, Chromosome Mapping, Karyotype, DNA, medicine.disease, Bochdalek hernia, Chromosomes, Human, Pair 1, Female
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12
المؤلفون: Graeme C.M. Black, David T. MacLaughlin, Eric Bieth, Didier Lacombe, Meaghan K. Russell, R. Sean Hill, Lihadh Al-Gazali, Sibel Kantarci, Ahmad S. Teebi, Koenraad Devriendt, Tianming Liu, Barbara R. Pober, Nicolas Chassaing, Dian Donnai, Caroline D. Robson, Patricia K. Donahoe, Kristin M. Noonan, Maria Loscertales, Christopher A. Walsh
مصطلحات موضوعية: medicine.medical_specialty, Pathology, Hearing loss, Hearing Loss, Sensorineural, Biology, medicine.disease_cause, Corpus callosum, Kidney, Article, Craniofacial Abnormalities, Internal medicine, Genetics, medicine, Humans, Abnormalities, Multiple, Family, Agenesis of the corpus callosum, Hernia, Diaphragmatic, Mutation, Congenital diaphragmatic hernia, Eye Diseases, Hereditary, Donnai–Barrow syndrome, Syndrome, medicine.disease, LRP2, Low Density Lipoprotein Receptor-Related Protein-2, Endocrinology, Chromosomes, Human, Pair 2, Sensorineural hearing loss, medicine.symptom, Agenesis of Corpus Callosum
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13
المؤلفون: Russell W. Jennings, Meaghan K. Russell, Barbara R. Pober, Patricia K. Donahoe, Virginia Kimonis, S M Manning, L. Wilkins Haug, Sibel Kantarci, David A. Casavant, Janice L. B. Byrne, Lewis B. Holmes, Charles Lee, Theonia K. Boyd, J. P. Fryns, Carlos E. Prada
المصدر: American journal of medical genetics. Part A. 140(1)
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Craniofacial abnormality, Limb Deformities, Congenital, Nails, Malformed, Biology, Article, Craniofacial Abnormalities, Fatal Outcome, Gene mapping, Fryns syndrome, Genetics, medicine, Humans, Diaphragmatic hernia, Abnormalities, Multiple, Genetic Predisposition to Disease, Genetics (clinical), In Situ Hybridization, Fluorescence, Phenocopy, Hernia, Diaphragmatic, medicine.diagnostic_test, Genome, Human, Infant, Newborn, Congenital diaphragmatic hernia, Infant, Nucleic Acid Hybridization, Syndrome, medicine.disease, Cleft Palate, Chromosomes, Human, Pair 1, Karyotyping, Chromosome Deletion, Hernias, Diaphragmatic, Congenital, Comparative genomic hybridization, Fluorescence in situ hybridization
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14
المؤلفون: Meaghan K. Russell, Angela E. Lin, Kate G. Ackerman, Sharmila Chakravorty, Patricia K. Donahoe, Bernarda Strauss, Marie Noel Westgate, Lewis B. Holmes, Barbara R. Pober, Jay M. Wilson
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Concordance, Monozygotic twin, Article, Fetus, Genetics, medicine, Diseases in Twins, Humans, Hernia, Diaphragmatic hernia, Sibling, Genetics (clinical), Chromosome Aberrations, Hernia, Diaphragmatic, business.industry, Siblings, Congenital diaphragmatic hernia, Infant, Twins, Monozygotic, medicine.disease, Health Surveys, Hospitals, Bochdalek hernia, Review Literature as Topic, Child, Preschool, Etiology, Female, business, Hernias, Diaphragmatic, Congenital
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15
المؤلفون: Meaghan K. Russell, Sibel Kantarci, David A. Casavant, Charles Lee, S M Manning, Theonia K. Boyd, Virginia Kimonis, Lewis B. Holmes, Patricia K. Donahoe, L. Wilkins Haug, J. P. Fryns, Barbara R. Pober, Russell W. Jennings, Janice L. B. Byrne, Carlos E. Prada
المصدر: American Journal of Medical Genetics Part A. :1031-1031
مصطلحات موضوعية: Gynecology, medicine.medical_specialty, business.industry, Fryns syndrome, Genetics, medicine, Congenital diaphragmatic hernia, In patient, Locus (genetics), business, medicine.disease, Genetics (clinical)