Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

Przeglądasz jako GOŚĆ

Wyszukujesz frazę ""Romitti, PA"" wg kryterium: Autor


Wyświetlanie 1-13 z 13
Tytuł :
Descriptive and risk factor analysis of nonsyndromic sacral agenesis: National Birth Defects Prevention Study, 1997-2011.
Autorzy :
Nalbandyan M; New York State Department of Health, Congenital Malformations Registry, Albany, New York.; Department of Epidemiology and Biostatistics, School of Public Health, University at Albany, Rensselaer, New York.
Howley MM; New York State Department of Health, Congenital Malformations Registry, Albany, New York.
Cunniff CM; Division of Medical Genetics, Department of Pediatrics, New York-Presbyterian Hospital/Weill Cornell Medicine, New York, New York.
Romitti PA; Department of Epidemiology, College of Public Health, University of Iowa, Iowa City, Iowa.
Browne ML; New York State Department of Health, Congenital Malformations Registry, Albany, New York.; Department of Epidemiology and Biostatistics, School of Public Health, University at Albany, Rensselaer, New York.
Pokaż więcej
Corporate Authors :
National Birth Defects Prevention Study
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2019 Sep; Vol. 179 (9), pp. 1799-1814. Date of Electronic Publication: 2019 Jul 11.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
MeSH Terms :
Abnormalities, Multiple/*epidemiology
Congenital Abnormalities/*epidemiology
Diabetes Mellitus/*epidemiology
Meningocele/*epidemiology
Nervous System Malformations/*epidemiology
Sacrococcygeal Region/*abnormalities
Abnormalities, Multiple/etiology ; Abnormalities, Multiple/genetics ; Abnormalities, Multiple/physiopathology ; Adult ; Case-Control Studies ; Congenital Abnormalities/genetics ; Congenital Abnormalities/physiopathology ; Diabetes Complications/epidemiology ; Diabetes Complications/genetics ; Diabetes Complications/physiopathology ; Diabetes Mellitus/genetics ; Diabetes Mellitus/physiopathology ; Female ; Humans ; Infant, Newborn ; Male ; Maternal Exposure ; Meningocele/etiology ; Meningocele/genetics ; Meningocele/physiopathology ; Nervous System Malformations/genetics ; Nervous System Malformations/physiopathology ; Population/genetics ; Pregnancy ; Risk Factors ; Sacrococcygeal Region/physiopathology ; Sacrum/abnormalities
SCR Disease Name :
Sacral defect and anterior sacral meningocele
Czasopismo naukowe
Tytuł :
Copy number variants in hypoplastic right heart syndrome.
Autorzy :
Giannakou A; Division of Intramural Population Health Research, Department of Health and Human Services, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
Sicko RJ; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York.
Kay DM; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York.
Zhang W; Division of Intramural Population Health Research, Department of Health and Human Services, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
Romitti PA; Department of Epidemiology, College of Public Health, The University of Iowa, Iowa City, Iowa.
Caggana M; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York.
Shaw GM; Department of Pediatrics, Stanford University School of Medicine, Stanford, California.
Jelliffe-Pawlowski LL; University of California San Francisco School of Medicine, San Francisco, California.
Mills JL; Division of Intramural Population Health Research, Department of Health and Human Services, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
Pokaż więcej
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2018 Dec; Vol. 176 (12), pp. 2760-2767. Date of Electronic Publication: 2018 Oct 05.
Typ publikacji :
Journal Article; Research Support, N.I.H., Intramural; Research Support, U.S. Gov't, P.H.S.
MeSH Terms :
DNA Copy Number Variations*
Heart Atria/*abnormalities
Heart Defects, Congenital/*epidemiology
Heart Defects, Congenital/*genetics
Heart Ventricles/*abnormalities
Adult ; California/epidemiology ; Chromosome Aberrations ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Heart Defects, Congenital/diagnosis ; Humans ; Male ; Middle Aged ; Phenotype ; Population Surveillance ; Pregnancy ; Pregnancy Outcome ; Risk Factors ; Young Adult
SCR Disease Name :
Right ventricle hypoplasia
Czasopismo naukowe
Tytuł :
Clinical and risk factor analysis of cloacal defects in the National Birth Defects Prevention Study.
Autorzy :
Keppler-Noreuil KM; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Conway KM; Department of Epidemiology, University of Iowa College of Public Health, Iowa City, Iowa.
Shen D; Department of Epidemiology, University of Iowa College of Public Health, Iowa City, Iowa.
Rhoads AJ; Department of Epidemiology, University of Iowa College of Public Health, Iowa City, Iowa.
Carey JC; Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, Utah.
Romitti PA; Department of Epidemiology, University of Iowa College of Public Health, Iowa City, Iowa.
Pokaż więcej
Corporate Authors :
National Birth Defects Prevention Study
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2017 Nov; Vol. 173 (11), pp. 2873-2885. Date of Electronic Publication: 2017 Sep 28.
Typ publikacji :
Journal Article
MeSH Terms :
Anus, Imperforate/*physiopathology
Bladder Exstrophy/*physiopathology
Congenital Abnormalities/*physiopathology
Hernia, Umbilical/*physiopathology
Scoliosis/*physiopathology
Urogenital Abnormalities/*physiopathology
Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/epidemiology ; Abnormalities, Multiple/physiopathology ; Adult ; Anus, Imperforate/diagnosis ; Anus, Imperforate/epidemiology ; Bladder Exstrophy/diagnosis ; Bladder Exstrophy/epidemiology ; Cloaca/physiopathology ; Congenital Abnormalities/diagnosis ; Congenital Abnormalities/epidemiology ; Female ; Hernia, Umbilical/diagnosis ; Hernia, Umbilical/epidemiology ; Humans ; Infant ; Infant, Newborn ; Male ; Pregnancy ; Risk Factors ; Scoliosis/diagnosis ; Scoliosis/epidemiology ; Urogenital Abnormalities/diagnosis ; Urogenital Abnormalities/epidemiology
SCR Disease Name :
Genitourinary Tract Anomalies; Omphalocele exstrophy imperforate anus
Czasopismo naukowe
Tytuł :
Copy number variants in a population-based investigation of Klippel-Trenaunay syndrome.
Autorzy :
Dimopoulos A; Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
Sicko RJ; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York.
Kay DM; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York.
Rigler SL; Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
Fan R; Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
Romitti PA; Department of Epidemiology, College of Public Health, The University of Iowa, Iowa City, Iowa.
Browne ML; Congenital Malformations Registry, New York State Department of Health, Albany, New York.; Department of Epidemiology and Biostatistics, University at Albany School of Public Health, Rensselaer, New York.
Druschel CM; Congenital Malformations Registry, New York State Department of Health, Albany, New York.; Department of Epidemiology and Biostatistics, University at Albany School of Public Health, Rensselaer, New York.
Caggana M; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York.
Brody LC; Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Mills JL; Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
Pokaż więcej
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2017 Feb; Vol. 173 (2), pp. 352-359. Date of Electronic Publication: 2016 Nov 30.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
DNA Copy Number Variations*
Genetic Association Studies*
Klippel-Trenaunay-Weber Syndrome/*diagnosis
Klippel-Trenaunay-Weber Syndrome/*genetics
Case-Control Studies ; Chromosome Mapping ; Comparative Genomic Hybridization ; Genetic Testing ; Genotype ; Histone Deacetylases/genetics ; Humans ; Klippel-Trenaunay-Weber Syndrome/epidemiology ; Maternal Age ; Polymorphism, Single Nucleotide ; Population Surveillance ; Prevalence ; Registries ; Repressor Proteins/genetics
Czasopismo naukowe
Tytuł :
Rare copy number variants implicated in posterior urethral valves.
Autorzy :
Boghossian NS; Department of Epidemiology and Biostatistics, Arnold School of Public Health, University of South Carolina, Columbia, South Carolina.; Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
Sicko RJ; Department of Health, Division of Genetics, Wadsworth Center, Albany, New York.
Kay DM; Department of Health, Division of Genetics, Wadsworth Center, Albany, New York.
Rigler SL; Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
Caggana M; Department of Health, Division of Genetics, Wadsworth Center, Albany, New York.
Tsai MY; Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota.
Yeung EH; Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
Pankratz N; Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota.
Cole BR; Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota.
Druschel CM; Department of Health, Congenital Malformations Registry, Albany, New York.; University at Albany School of Public Health, Rensselaer, New York.
Romitti PA; Department of Epidemiology, College of Public Health, The University of Iowa, Iowa City, Iowa.
Browne ML; Department of Health, Congenital Malformations Registry, Albany, New York.; University at Albany School of Public Health, Rensselaer, New York.
Fan R; Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
Liu A; Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
Brody LC; Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Mills JL; Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
Pokaż więcej
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2016 Mar; Vol. 170 (3), pp. 622-33. Date of Electronic Publication: 2015 Dec 14.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
MeSH Terms :
DNA Copy Number Variations*
Sequence Deletion*
Bone Morphogenetic Protein 7/*genetics
Cadherins/*genetics
Fibroblast Growth Factors/*genetics
Phosphatidylinositol 3-Kinases/*genetics
Tetraspanins/*genetics
Urethral Stricture/*genetics
Base Sequence ; Bone Morphogenetic Protein 7/deficiency ; Cadherins/deficiency ; Case-Control Studies ; Child, Preschool ; Chromosomes, Human, Pair 17 ; Chromosomes, Human, Pair 3 ; Chromosomes, Human, Pair 6 ; Comparative Genomic Hybridization ; Fibroblast Growth Factors/deficiency ; Gene Expression ; Genotype ; Humans ; Infant ; Male ; Molecular Sequence Data ; New York/epidemiology ; Oligonucleotide Array Sequence Analysis ; Phenotype ; Phosphatidylinositol 3-Kinases/deficiency ; Polymorphism, Single Nucleotide ; Tetraspanins/deficiency ; Urethra/metabolism ; Urethra/pathology ; Urethral Stricture/diagnosis ; Urethral Stricture/epidemiology ; Urethral Stricture/pathology
Czasopismo naukowe
Tytuł :
Preconception folic acid supplementation and risk for chromosome 21 nondisjunction: a report from the National Down Syndrome Project.
Autorzy :
Hollis ND; Department of Human Genetics, Emory University, Atlanta, Georgia 30322, USA.
Allen EG
Oliver TR
Tinker SW
Druschel C
Hobbs CA
O'Leary LA
Romitti PA
Royle MH
Torfs CP
Freeman SB
Sherman SL
Bean LJ
Pokaż więcej
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2013 Mar; Vol. 161A (3), pp. 438-44. Date of Electronic Publication: 2013 Feb 07.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Chromosomes, Human, Pair 21*
Nondisjunction, Genetic*
Down Syndrome/*prevention & control
Folic Acid/*administration & dosage
Adult ; Case-Control Studies ; Dietary Supplements ; Down Syndrome/genetics ; Female ; Humans ; Infant ; Meiosis ; Preconception Care ; Risk
Czasopismo naukowe
Tytuł :
Reproductive patterns among mothers of males diagnosed with Duchenne or Becker muscular dystrophy.
Autorzy :
Nabukera SK; Department of Epidemiology, The University of Iowa, Iowa City, IA, USA.
Romitti PA
Caspers KM
Street N
Cunniff C
Mathews KD
Fox DJ
Puzhankara S
Ciafaloni E
James KA
Su Y
Pokaż więcej
Corporate Authors :
MD STARnet
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2013 Jan; Vol. 161A (1), pp. 70-5. Date of Electronic Publication: 2012 Dec 13.
Typ publikacji :
Journal Article; Research Support, U.S. Gov't, P.H.S.
MeSH Terms :
Choice Behavior*
Reproduction*
Muscular Dystrophy, Duchenne/*diagnosis
Muscular Dystrophy, Duchenne/*genetics
Adolescent ; Adult ; European Continental Ancestry Group ; Female ; Humans ; Live Birth ; Male ; Maternal Age ; Population Surveillance ; Pregnancy ; Retrospective Studies ; Young Adult
Czasopismo naukowe
Tytuł :
Analysis of selected maternal exposures and non-syndromic atrioventricular septal defects in the National Birth Defects Prevention Study, 1997-2005.
Autorzy :
Patel SS; Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, USA. />Burns TL
Botto LD
Riehle-Colarusso TJ
Lin AE
Shaw GM
Romitti PA
Pokaż więcej
Corporate Authors :
National Birth Defects Prevention Study
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2012 Oct; Vol. 158A (10), pp. 2447-55. Date of Electronic Publication: 2012 Aug 17.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Maternal Exposure*
Heart Septal Defects/*epidemiology
Smoking/*adverse effects
Tobacco Smoke Pollution/*adverse effects
Adolescent ; Adult ; Case-Control Studies ; Congenital Abnormalities/epidemiology ; Congenital Abnormalities/prevention & control ; Endocardial Cushion Defects/epidemiology ; Female ; Humans ; Infant, Newborn ; Interviews as Topic ; Male ; Preconception Care/methods ; Pregnancy ; Prenatal Exposure Delayed Effects ; Risk Factors ; Young Adult
SCR Disease Name :
Atrioventricular Septal Defect
Czasopismo naukowe
Tytuł :
Evaluation of genes involved in limb development, angiogenesis, and coagulation as risk factors for congenital limb deficiencies.
Autorzy :
Browne ML; Congenital Malformations Registry, New York State Department of Health, Troy, USA. />Carter TC
Kay DM
Kuehn D
Brody LC
Romitti PA
Liu A
Caggana M
Druschel CM
Mills JL
Pokaż więcej
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2012 Oct; Vol. 158A (10), pp. 2463-72. Date of Electronic Publication: 2012 Sep 10.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Fibroblast Growth Factor 10/*genetics
Limb Deformities, Congenital/*genetics
Adult ; Blood Coagulation/genetics ; Case-Control Studies ; Extremities/blood supply ; Extremities/growth & development ; Female ; Genotype ; Humans ; Infant, Newborn ; Limb Deformities, Congenital/ethnology ; Male ; Morphogenesis/genetics ; Neovascularization, Physiologic/genetics ; Polymorphism, Single Nucleotide ; Proteins/genetics ; Young Adult
Czasopismo naukowe
Tytuł :
Epidemiology of congenital idiopathic talipes equinovarus in Iowa, 1997-2005.
Autorzy :
Kancherla V; Department of Epidemiology, College of Public Health, The University of Iowa, Iowa City, Iowa 52242, USA.
Romitti PA
Caspers KM
Puzhankara S
Morcuende JA
Pokaż więcej
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2010 Jul; Vol. 152A (7), pp. 1695-700.
Typ publikacji :
Journal Article; Research Support, U.S. Gov't, P.H.S.
MeSH Terms :
Clubfoot/*epidemiology
Female ; Humans ; Infant, Newborn ; Iowa/epidemiology ; Male ; Odds Ratio ; Pregnancy ; Prevalence
Czasopismo naukowe
Tytuł :
The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US.
Autorzy :
Waller DK; Houston Health Science Center, The University of Texas, Houston, Texas 77030, USA. />Correa A
Vo TM
Wang Y
Hobbs C
Langlois PH
Pearson K
Romitti PA
Shaw GM
Hecht JT
Pokaż więcej
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2008 Sep 15; Vol. 146A (18), pp. 2385-9.
Typ publikacji :
Journal Article; Research Support, U.S. Gov't, P.H.S.
MeSH Terms :
Paternal Age*
Achondroplasia/*epidemiology
Thanatophoric Dysplasia/*epidemiology
Adult ; Confidence Intervals ; Humans ; Infant, Newborn ; Male ; Odds Ratio ; Prevalence ; Sentinel Surveillance ; Texas/epidemiology ; United States/epidemiology
Czasopismo naukowe
Tytuł :
Periconceptional consumption of vitamins containing folic acid and risk for multiple congenital anomalies.
Autorzy :
Bitsko RH; Epidemic Intelligence Service, Office of Workforce and Career Development, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA. />Reefhuis J
Romitti PA
Moore CA
Honein MA
Pokaż więcej
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2007 Oct 15; Vol. 143A (20), pp. 2397-405.
Typ publikacji :
Journal Article
MeSH Terms :
Abnormalities, Multiple/*epidemiology
Folic Acid/*adverse effects
Vitamin B Complex/*adverse effects
Abnormalities, Multiple/prevention & control ; Adult ; Case-Control Studies ; Female ; Folic Acid/therapeutic use ; Humans ; Infant, Newborn ; Male ; Preconception Care ; Pregnancy ; Risk Factors ; Vitamin B Complex/therapeutic use
Czasopismo naukowe
Tytuł :
PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations.
Autorzy :
Avila JR; Department of Cytokine Biology, The Forsyth Institute and Department of Developmental Biology, Harvard School of Dental Medicine, Boston, Massachusetts, USA.
Jezewski PA
Vieira AR
Orioli IM
Castilla EE
Christensen K
Daack-Hirsch S
Romitti PA
Murray JC
Pokaż więcej
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2006 Dec 01; Vol. 140 (23), pp. 2562-70.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Genetic Variation*
Cell Adhesion Molecules/*genetics
Cleft Lip/*genetics
Cleft Palate/*genetics
Population/*genetics
Alleles ; Amino Acid Sequence ; Cell Adhesion Molecules/metabolism ; Cleft Lip/ethnology ; Cleft Palate/ethnology ; DNA Mutational Analysis ; Humans ; Linkage Disequilibrium ; Molecular Sequence Data ; Mutation ; Nectins
Czasopismo naukowe
    Wyświetlanie 1-13 z 13

    Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies