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1دورية أكاديمية
المؤلفون: Weining Lu, Fabiola Quintero-Rivera, Yanli Fan, Fowzan S Alkuraya, Diana J Donovan, Qiongchao Xi, Annick Turbe-Doan, Qing-Gang Li, Craig G Campbell, Alan L Shanske, Elliott H Sherr, Ayesha Ahmad, Roxana Peters, Benedict Rilliet, Paloma Parvex, Alexander G Bassuk, David J Harris, Heather Ferguson, Chantal Kelly, Christopher A Walsh, Richard M Gronostajski, Koenraad Devriendt, Anne Higgins, Azra H Ligon, Bradley J Quade, Cynthia C Morton, James F Gusella, Richard L Maas
المصدر: PLoS Genetics, Vol 3, Iss 5, p e80 (2007)
وصف الملف: electronic resource
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2
المؤلفون: Mark Bowser, Anna Blonska, Jordi Rosell, Elaine H. Zackai, Molly B. Sheridan, Tao Wang, Wendy R. Kates, Bernice E. Morrow, Robert J. Shprintzen, Jonathan H. Chung, Jacob Johnson, Damian Heine-Suñer, Xin Zheng, M. Cristina Digilio, Donna M. McDonald McGinn, Nicole Philip, Koen Devriendt, Jeroen Breckpot, Karlene Coleman, Anne Marie Higgins, Courtney Carpenter, Tingwei Guo, Beverly S. Emanuel, Frits A. Beemer, Anne S. Bassett, Marcella Devoto, Sean Herman, Eva W.C. Chow, Bruno Dallapiccola, Bruno Marino, Alan L. Shanske, Tony J. Simon, Ann Swillen
المصدر: American Journal of Medical Genetics Part A. :2781-2787
مصطلحات موضوعية: Male, TBX1, Genotype, genomic disorder, cleft palate, 22q11.2 deletion syndrome, 2 deletion syndrome, tbx1 sequencing, 22q11, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Article, DiGeorge syndrome, Gene Order, DiGeorge Syndrome, Prevalence, Genetics, medicine, Humans, Allele, Genotyping, Genetic Association Studies, Genetics (clinical), Exome sequencing, Base Sequence, Microdeletion syndrome, medicine.disease, Cleft Palate, Phenotype, Female, T-Box Domain Proteins
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3
المؤلفون: Alan L. Shanske
المصدر: AIDS. 26:1775-1779
مصطلحات موضوعية: Adult, Cyclopropanes, medicine.medical_specialty, Pediatrics, Efavirenz, Anti-HIV Agents, Immunology, chemistry.chemical_compound, Imaging, Three-Dimensional, Child of Impaired Parents, Pregnancy, Humans, Immunology and Allergy, Medicine, Eye Abnormalities, Intrauterine exposure, Prenatal exposure, Acquired Immunodeficiency Syndrome, Fetus, business.industry, Craniofacial Dysostosis, Infant, Newborn, Abnormalities, Drug-Induced, Infant, medicine.disease, Teratology, Benzoxazines, Maxillofacial Abnormalities, Surgery, Cleft Palate, Radiography, Teratogens, Infectious Diseases, chemistry, Oblique facial clefts, Alkynes, Prenatal Exposure Delayed Effects, Female, Teratogenic risk, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b6023124ab069531cafef7a20bcd2a3
https://doi.org/10.1097/qad.0b013e328356467a -
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المؤلفون: Tammy Tsuchida, Beth A. Pletcher, Brynn Levy, James Tepperberg, David Tegay, Peter Papenhausen, Kurt Hirschhorn, Peter E. Warburton, Leena Ala-Kokko, Stuart Baker, Barbara Frederick, Alan L. Shanske, Odelia Nahum
المصدر: Genetics in Medicine. 14:811-818
مصطلحات موضوعية: Adult, Genetic Markers, Male, Chromosomal Proteins, Non-Histone, Marker chromosome, Single-nucleotide polymorphism, Biology, Marfan Syndrome, Craniosynostoses, Centromere, medicine, Humans, Child, In Situ Hybridization, Fluorescence, Genetics (clinical), Genetics, Phenocopy, Chromosomes, Human, Pair 15, medicine.diagnostic_test, Shprintzen–Goldberg syndrome, Chromosome, Syndrome, medicine.disease, Molecular biology, Chromosome Banding, Arachnodactyly, Phenotype, Child, Preschool, Karyotyping, Tetrasomy, Female, Fluorescence in situ hybridization
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5
المؤلفون: Leena Ala-Kokko, Barbara Frederick, Stuart Baker, James T. Goodrich, Alan L. Shanske, Brynn Levy
المصدر: American Journal of Medical Genetics Part A. :1574-1578
مصطلحات موضوعية: Male, Germline mosaicism, Biology, Fibrillins, Germline, Marfan Syndrome, Aberrant subclavian artery, Craniosynostoses, Chromosome 15, Germline mutation, stomatognathic system, Genetics, medicine, Humans, Germ-Line Mutation, Genetics (clinical), Mosaicism, Microfilament Proteins, Facies, Infant, Shprintzen–Goldberg syndrome, medicine.disease, Arachnodactyly, Phenotype, Intestinal malrotation, Tetrasomy, Female
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المؤلفون: Leena Ala-Kokko, James T. Goodrich, Brynn Levy, Alan L. Shanske
المصدر: Clinical Dysmorphology. 21:69-73
مصطلحات موضوعية: Heterozygote, Consanguinity, Craniosynostoses, Syndromic craniosynostosis, Pathology and Forensic Medicine, Humans, Medicine, Genetics (clinical), Oligonucleotide Array Sequence Analysis, business.industry, Homozygote, Infant, Newborn, Facies, Syndrome, General Medicine, Anatomy, Infant newborn, Spine, Spine (zoology), Bones pelvis, Pediatrics, Perinatology and Child Health, Female, Sulfotransferases, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc65dd4d8ae0e121f35405c047b8644c
https://doi.org/10.1097/mcd.0b013e32834ebf24 -
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المؤلفون: Xin Zheng, Tingwei Guo, Karlene Coleman, Anne Marie Higgins, Jacob Johnson, Jordi Rosell, Alan L. Shanske, Courtney Carpenter, Donna M. McDonald-McGinn, Ann Swillen, Frits A. Beemer, Anna Blonska, Molly B. Sheridan, Robert J. Shprintzen, Jeroen Breckpot, Anne S. Bassett, Marcella Devoto, Beverly S. Emanuel, Eva W.C. Chow, Maria Cristina Digilio, Elizabeth Goldmuntz, Elaine H. Zackai, Mark Bowser, Wendy R. Kates, Bernice E. Morrow, Jonathan H. Chung, Damian Heine-Suñer, Bruno Dallapiccola, Bruno Marino, Tony J. Simon, Nicole Philip, Koen Devriendt, Tao Wang
المصدر: Human Mutation. 32:1278-1289
مصطلحات موضوعية: TBX1, 22q11 Deletion Syndrome, Genotype, Chromosomes, Human, Pair 22, Cardiovascular Abnormalities, Single-nucleotide polymorphism, Biology, Bioinformatics, Polymorphism, Single Nucleotide, Article, DiGeorge syndrome, DiGeorge Syndrome, Genetics, medicine, Humans, cardiovascular defects, genomic disorder, 22q11.2 deletion syndrome, tbx1 sequencing, Genetics (clinical), Haplotype, Genetic Variation, medicine.disease, Minor allele frequency, Phenotype, Haplotypes, T-Box Domain Proteins, Haploinsufficiency
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المؤلفون: Martine Dunnwald, Danilo Moretti-Ferreira, Myriam Peyrard-Janvid, Brian C. Schutte, Akira Kinoshita, Juha Kere, Jason L. Weirather, Renata Lúcia Leite Ferreira de Lima, Jeffrey C. Murray, Maria A. Mansilla, Hannele Koillinen, Steve L. Goudy, Alan L. Shanske, Nicholas K. Rorick
المصدر: American Journal of Medical Genetics Part A. 155:1314-1321
مصطلحات موضوعية: DNA, Complementary, Cleft Lip, Molecular Sequence Data, Mutant, Mutation, Missense, Locus (genetics), Biology, Article, Mice, 03 medical and health sciences, Genetics, medicine, Animals, Humans, Missense mutation, Abnormalities, Multiple, Van der Woude syndrome, Cloning, Molecular, Gene, In Situ Hybridization, Genetics (clinical), 030304 developmental biology, Regulation of gene expression, 0303 health sciences, Base Sequence, Cysts, Reverse Transcriptase Polymerase Chain Reaction, 030305 genetics & heredity, Computational Biology, Proteins, Promoter, Sequence Analysis, DNA, Microarray Analysis, medicine.disease, Lip, 3. Good health, Cleft Palate, Gene Expression Regulation, Chromosomes, Human, Pair 1, Interferon Regulatory Factors, IRF6, Microtubule-Associated Proteins
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المؤلفون: Evgenia Pak, Maximilian Muenke, Jill A. Rosenfeld, Ping Hu, Alan L. Shanske, Brooke Blessing, Virginia K. Proud, Amalia Dutra, Erich Roessler, Daniel E. Pineda-Alvarez, Emily F. Kauvar, Lisa G. Shaffer, Benjamin D. Solomon, Cathy A. Stevens
المصدر: Molecular Genetics and Metabolism. 102:470-480
مصطلحات موضوعية: Adult, Endocrinology, Diabetes and Metabolism, Biology, Nucleic Acid Denaturation, Bone morphogenetic protein, Biochemistry, Article, Endocrinology, Holoprosencephaly, Genetics, medicine, Animals, Humans, Coding region, Abnormalities, Multiple, Sonic hedgehog, Child, Molecular Biology, Gene, Genetic Association Studies, In Situ Hybridization, Fluorescence, Sequence (medicine), Comparative Genomic Hybridization, Base Sequence, Sequence Analysis, DNA, medicine.disease, Case-Control Studies, Child, Preschool, Bone Morphogenetic Proteins, Forebrain, biology.protein, Female, Animal studies, Chromosome Deletion, Chromosomes, Human, Pair 18, Signal Transduction
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المؤلفون: David J. Prezant, Ganesha Santhyadka, Mark L. Brantly, Vasilios Christodoulou, Robert Chavko, Michael D. Weiden, Alan L. Shanske, Charles B. Hall, Gisela I. Banauch, Gabriel Izbicki
المصدر: Chest. 138:1116-1124
مصطلحات موضوعية: Adult, Male, Pulmonary and Respiratory Medicine, Spirometry, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, AAT deficiency, Critical Care and Intensive Care Medicine, Gastroenterology, Fires, Loss of heterozygosity, Forced Expiratory Volume, Occupational Exposure, alpha 1-Antitrypsin Deficiency, Internal medicine, Rescue Work, medicine, Humans, Prospective Studies, Risk factor, Prospective cohort study, Original Research, Alpha 1-antitrypsin deficiency, medicine.diagnostic_test, business.industry, Smoke Inhalation Injury, medicine.disease, Surgery, Occupational Diseases, α1 antitrypsin, Concomitant, Disease Progression, Workforce, Female, New York City, September 11 Terrorist Attacks, Cardiology and Cardiovascular Medicine, business, Follow-Up Studies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c568ba6f418e783e42a6246e9750b29
https://doi.org/10.1378/chest.10-0187