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Wyszukujesz frazę ""congenital abnormalities"" wg kryterium: Temat


Tytuł :
Long-term follow-up in surgical newborns: A single-institution experience.
Autorzy :
Takayasu H; Department of Pediatric Surgery, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan, 1-1-1, Tennoudai, Tsukuba, Ibaraki, 305-8575, Japan. Electronic address: .
Masumoto K; Department of Pediatric Surgery, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan, 1-1-1, Tennoudai, Tsukuba, Ibaraki, 305-8575, Japan.
Sasaki T; Department of Pediatric Surgery, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan, 1-1-1, Tennoudai, Tsukuba, Ibaraki, 305-8575, Japan.
Chiba F; Department of Pediatric Surgery, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan, 1-1-1, Tennoudai, Tsukuba, Ibaraki, 305-8575, Japan.
Ono K; Department of Pediatric Surgery, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan, 1-1-1, Tennoudai, Tsukuba, Ibaraki, 305-8575, Japan.
Gotoh C; Department of Pediatric Surgery, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan, 1-1-1, Tennoudai, Tsukuba, Ibaraki, 305-8575, Japan.
Urita Y; Department of Pediatric Surgery, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan, 1-1-1, Tennoudai, Tsukuba, Ibaraki, 305-8575, Japan.
Shinkai T; Department of Pediatric Surgery, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan, 1-1-1, Tennoudai, Tsukuba, Ibaraki, 305-8575, Japan.
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Źródło :
Asian journal of surgery [Asian J Surg] 2020 Dec; Vol. 43 (12), pp. 1160-1164. Date of Electronic Publication: 2020 Mar 19.
Typ publikacji :
Journal Article
MeSH Terms :
Infant, Newborn*
Survivors*
Congenital Abnormalities/*surgery
Congenital Abnormalities/mortality ; Congenital Abnormalities/psychology ; Female ; Follow-Up Studies ; Humans ; Lost to Follow-Up ; Male ; Parents/psychology ; Patient Compliance ; Patient Satisfaction ; Retrospective Studies ; Time Factors
Czasopismo naukowe
Tytuł :
Risk of congenital birth defects during COVID-19 pandemic: Draw attention to the physicians and policymakers.
Autorzy :
Khan MSI; Department of Anatomy and Embryology, Ehime University Graduate School of Medicine, Toon, Ehime, Japan.
Nabeka H; Department of Anatomy and Embryology, Ehime University Graduate School of Medicine, Toon, Ehime, Japan.
Akbar SMF; Department of Gastroenterology and Metabology, Ehime University Graduate School of Medicine, Toon, Ehime, Japan.
Al Mahtab M; Department of Hepatology, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh.
Shimokawa T; Department of Anatomy and Embryology, Ehime University Graduate School of Medicine, Toon, Ehime, Japan.
Islam F; Department of Anatomy and Embryology, Ehime University Graduate School of Medicine, Toon, Ehime, Japan.
Matsuda S; Department of Anatomy and Embryology, Ehime University Graduate School of Medicine, Toon, Ehime, Japan.
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Źródło :
Journal of global health [J Glob Health] 2020 Dec; Vol. 10 (2), pp. 020378.
Typ publikacji :
Journal Article
MeSH Terms :
COVID-19*/drug therapy
COVID-19*/transmission
Congenital Abnormalities*
Physicians*
SARS-CoV-2/*isolation & purification
Adenosine Monophosphate/analogs & derivatives ; Alanine/analogs & derivatives ; Antimalarials ; Antiviral Agents ; Female ; Global Health ; Humans ; Hydroxychloroquine ; Infant, Newborn ; Infant, Newborn, Diseases ; Neural Tube Defects ; Pregnancy ; Pregnancy Complications, Infectious
Czasopismo naukowe
Tytuł :
Long-term Outcomes of Clip Coupler Implantation in Patients with Unilateral Congenital Aural Atresia.
Autorzy :
Zhao C; Department of Otolaryngology Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
Yang J; Department of Otolaryngology Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
Liu Y; Department of Otolaryngology Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
Gao M; Department of Otolaryngology Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
Chen P; Department of Otolaryngology Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
Zhao S; Department of Otolaryngology Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
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Źródło :
The Annals of otology, rhinology, and laryngology [Ann Otol Rhinol Laryngol] 2020 Dec; Vol. 129 (12), pp. 1221-1228. Date of Electronic Publication: 2020 Jun 05.
Typ publikacji :
Journal Article
MeSH Terms :
Bone Conduction*
Transducers*
Congenital Abnormalities/*surgery
Ear/*abnormalities
Hearing Loss, Conductive/*surgery
Hearing Loss, Mixed Conductive-Sensorineural/*surgery
Ossicular Replacement/*methods
Stapes Surgery/*methods
Adolescent ; Adult ; Audiometry, Pure-Tone ; Auditory Threshold ; Child ; Congenital Abnormalities/physiopathology ; Congenital Microtia/complications ; Ear/physiopathology ; Ear/surgery ; Female ; Hearing Loss, Conductive/etiology ; Hearing Loss, Conductive/physiopathology ; Hearing Loss, Mixed Conductive-Sensorineural/etiology ; Hearing Loss, Mixed Conductive-Sensorineural/physiopathology ; Humans ; Male ; Retrospective Studies ; Signal-To-Noise Ratio ; Speech Reception Threshold Test ; Treatment Outcome ; Young Adult
SCR Disease Name :
Aural Atresia, Congenital
Czasopismo naukowe
Tytuł :
How often do we incidentally find a fetal abnormality at the routine third-trimester growth scan? A population-based study.
Autorzy :
Drukker L; Nuffield Department of Women's and Reproductive Health, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom; Fetal Medicine Unit, Department of Maternal and Fetal Medicine, Women's Centre, John Radcliffe Hospital, Oxford University Hospitals National Health Service (NHS) Foundation Trust, Oxford, United Kingdom.
Cavallaro A; Nuffield Department of Women's and Reproductive Health, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom; Fetal Medicine Unit, Department of Maternal and Fetal Medicine, Women's Centre, John Radcliffe Hospital, Oxford University Hospitals National Health Service (NHS) Foundation Trust, Oxford, United Kingdom.
Salim I; Nuffield Department of Women's and Reproductive Health, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom; Fetal Medicine Unit, Department of Maternal and Fetal Medicine, Women's Centre, John Radcliffe Hospital, Oxford University Hospitals National Health Service (NHS) Foundation Trust, Oxford, United Kingdom.
Ioannou C; Fetal Medicine Unit, Department of Maternal and Fetal Medicine, Women's Centre, John Radcliffe Hospital, Oxford University Hospitals National Health Service (NHS) Foundation Trust, Oxford, United Kingdom.
Impey L; Fetal Medicine Unit, Department of Maternal and Fetal Medicine, Women's Centre, John Radcliffe Hospital, Oxford University Hospitals National Health Service (NHS) Foundation Trust, Oxford, United Kingdom.
Papageorghiou AT; Nuffield Department of Women's and Reproductive Health, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom. Electronic address: .
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Źródło :
American journal of obstetrics and gynecology [Am J Obstet Gynecol] 2020 Dec; Vol. 223 (6), pp. 919.e1-919.e13. Date of Electronic Publication: 2020 Jun 03.
Typ publikacji :
Journal Article
MeSH Terms :
Incidental Findings*
Pregnancy Trimester, Third*
Congenital Abnormalities/*epidemiology
Undiagnosed Diseases/*epidemiology
Achondroplasia/diagnostic imaging ; Achondroplasia/epidemiology ; Adult ; Congenital Abnormalities/diagnostic imaging ; Female ; Humans ; Hydrocephalus/diagnostic imaging ; Hydrocephalus/epidemiology ; Kidney/abnormalities ; Kidney/diagnostic imaging ; Kidney Diseases/congenital ; Kidney Diseases/diagnostic imaging ; Kidney Diseases/epidemiology ; Kidney Pelvis/abnormalities ; Kidney Pelvis/diagnostic imaging ; Lymphangioma/diagnostic imaging ; Lymphangioma/epidemiology ; Ovarian Cysts/diagnostic imaging ; Ovarian Cysts/epidemiology ; Pregnancy ; Ultrasonography, Prenatal ; Undiagnosed Diseases/diagnostic imaging ; United Kingdom/epidemiology ; Urogenital Abnormalities/diagnostic imaging ; Urogenital Abnormalities/epidemiology
SCR Disease Name :
Hereditary renal agenesis
Czasopismo naukowe
Tytuł :
Genetic and reproductive consequences of consanguineous marriage in Bangladesh.
Autorzy :
Anwar S; Department of Genetic Engineering and Biotechnology, School of Life Sciences, Shahjalal University of Science and Technology, Sylhet, Bangladesh.
Taslem Mourosi J; Department of Genetic Engineering and Biotechnology, School of Life Sciences, Shahjalal University of Science and Technology, Sylhet, Bangladesh.
Arafat Y; Department of Genetic Engineering and Biotechnology, School of Life Sciences, Shahjalal University of Science and Technology, Sylhet, Bangladesh.
Hosen MJ; Department of Genetic Engineering and Biotechnology, School of Life Sciences, Shahjalal University of Science and Technology, Sylhet, Bangladesh.
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Źródło :
PloS one [PLoS One] 2020 Nov 30; Vol. 15 (11), pp. e0241610. Date of Electronic Publication: 2020 Nov 30 (Print Publication: 2020).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Consanguinity*
Congenital Abnormalities/*epidemiology
Genetic Diseases, Inborn/*epidemiology
Population/*genetics
Reproductive Behavior/*statistics & numerical data
Adult ; Bangladesh ; Child ; Congenital Abnormalities/genetics ; Female ; Genetic Diseases, Inborn/genetics ; Humans ; Male ; Mortality/trends ; Multifactorial Inheritance ; Pedigree ; Selection, Genetic
Czasopismo naukowe
Tytuł :
Challenges and opportunities at the interface of birth defects, human genetics and developmental biology.
Autorzy :
Khokha MK; Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06520, USA .
Liu KJ; Centre for Craniofacial and Regenerative Biology, Faculty of Dentistry, Oral & Craniofacial Sciences, King's College London, London SE1 9RT, UK.
Wallingford JB; Department of Molecular Biosciences, University of Texas at Austin, Austin, TX 78712, USA.
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Źródło :
Development (Cambridge, England) [Development] 2020 Nov 09; Vol. 147 (21). Date of Electronic Publication: 2020 Nov 09.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Developmental Biology*
Human Genetics*
Congenital Abnormalities/*genetics
Congenital Abnormalities/mortality ; Cooperative Behavior ; Genetic Variation ; Genotype ; Humans ; Infant ; Phenotype
Czasopismo naukowe
Tytuł :
Plant-Induced Reproductive Disease, Abortion, and Teratology in Livestock.
Autorzy :
Stegelmeier BL; USDA/ARS Poisonous Plant Research Laboratory, 1150 East 1400 North, Logan, UT 84341, USA. Electronic address: .
Davis TZ; USDA/ARS Poisonous Plant Research Laboratory, 1150 East 1400 North, Logan, UT 84341, USA.
Clayton MJ; USDA/ARS Poisonous Plant Research Laboratory, 1150 East 1400 North, Logan, UT 84341, USA.
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Źródło :
The Veterinary clinics of North America. Food animal practice [Vet Clin North Am Food Anim Pract] 2020 Nov; Vol. 36 (3), pp. 735-743.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Livestock*
Abortifacient Agents/*poisoning
Congenital Abnormalities/*veterinary
Genital Diseases, Female/*veterinary
Genital Diseases, Male/*veterinary
Plant Poisoning/*veterinary
Plants, Toxic/*poisoning
Animals ; Congenital Abnormalities/etiology ; Female ; Genital Diseases, Female/etiology ; Genital Diseases, Male/etiology ; Infertility ; Male ; Plant Poisoning/etiology
Czasopismo naukowe
Tytuł :
Morgagni hernia and accessory liver lobe torsion in an adult.
Autorzy :
Ufuk F; Department of Radiology, University of Pamukkale, Denizli, Turkey. Electronic address: .
Yılmaz S; Department of Surgery, University of Pamukkale, Denizli, Turkey.
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Źródło :
The American journal of emergency medicine [Am J Emerg Med] 2020 Oct; Vol. 38 (10), pp. 2248.e1-2248.e3. Date of Electronic Publication: 2020 May 29.
Typ publikacji :
Case Reports
MeSH Terms :
Congenital Abnormalities/*diagnosis
Liver/*abnormalities
Torsion Abnormality/*diagnosis
Abdominal Pain/etiology ; Congenital Abnormalities/diagnostic imaging ; Congenital Abnormalities/physiopathology ; Humans ; Liver/surgery ; Male ; Middle Aged ; Tomography, X-Ray Computed/methods ; Torsion Abnormality/diagnostic imaging ; Vomiting/etiology
Raport
Tytuł :
Genetic analysis of children with congenital ocular anomalies in three ecological regions of Nepal: a phase II of Nepal pediatric ocular diseases study.
Autorzy :
Adhikari S; Tilganga Institute of Ophthalmology, PO Box 561, Kathmandu, Nepal. .
Thakur N; National Academy of Medical Sciences NAMS, Bir Hospital, Kathmandu, Nepal.
Shrestha U; Sudrishti Eye Clinic, Kathmandu, Nepal.
Shrestha MK; Tilganga Institute of Ophthalmology, PO Box 561, Kathmandu, Nepal.
Manshrestha M; Tilganga Institute of Ophthalmology, PO Box 561, Kathmandu, Nepal.
Thapa B; Patan Academy of Health Sciences, Patan, Nepal.
Poudel M; Tilganga Institute of Ophthalmology, PO Box 561, Kathmandu, Nepal.
Kunwar A; The Kathmandu Centre for Genomics and Research Laboratory, Kathmandu, Nepal.
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Źródło :
BMC medical genetics [BMC Med Genet] 2020 Sep 22; Vol. 21 (1), pp. 185. Date of Electronic Publication: 2020 Sep 22.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation, Missense*
Blindness/*genetics
Congenital Abnormalities/*genetics
Eye Diseases/*genetics
Genetic Predisposition to Disease/*genetics
Adolescent ; Altitude ; Blindness/diagnosis ; Blindness/epidemiology ; Child ; Child, Preschool ; Congenital Abnormalities/diagnosis ; Congenital Abnormalities/epidemiology ; Cross-Sectional Studies ; Eye Diseases/diagnosis ; Eye Diseases/epidemiology ; Female ; Homeodomain Proteins/genetics ; Humans ; Infant ; Infant, Newborn ; Male ; Membrane Proteins/genetics ; Nepal/epidemiology ; Prevalence ; Transcription Factors/genetics
Czasopismo naukowe
Tytuł :
Modified Woodward Technique for Sprengel Deformity and a Modification of the Cavendish Classification.
Autorzy :
Öner A; Department of Orthopaedics and Traumatology, Metin Sabanci Baltalimani Bone Diseases Education and Research Hospital, Istanbul, Turkey.
Köksal A
Çimen O
Kargin D
Albayrak A
Akman YE
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Źródło :
Journal of pediatric orthopedics [J Pediatr Orthop] 2020 Sep; Vol. 40 (8), pp. 401-407.
Typ publikacji :
Journal Article
MeSH Terms :
Congenital Abnormalities*/classification
Congenital Abnormalities*/diagnosis
Congenital Abnormalities*/surgery
Muscle, Skeletal*/abnormalities
Muscle, Skeletal*/surgery
Shoulder*/abnormalities
Shoulder*/surgery
Orthopedic Procedures/*methods
Scapula/*abnormalities
Shoulder Joint/*abnormalities
Shoulder Joint/*physiopathology
Child ; Female ; Humans ; Male ; Range of Motion, Articular ; Retrospective Studies ; Scapula/surgery ; Shoulder Joint/surgery ; Treatment Outcome
SCR Disease Name :
Sprengel deformity
Czasopismo naukowe
Tytuł :
Maternal use of folic acid and multivitamin supplements and infant risk of birth defects in Norway, 1999-2013.
Autorzy :
Gildestad T; Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway.; Department of Dermatology, Haukeland University Hospital, Bergen, Norway.
Bjørge T; Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway.; Cancer Registry of Norway, Oslo, Norway.
Haaland ØA; Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway.
Klungsøyr K; Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway.; Division of Mental and Physical Health, Norwegian Institute of Public Health, Bergen, Norway.
Vollset SE; Department of Health Metrics Sciences, University of Washington, Seattle, WA, USA.
Øyen N; Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway.; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
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Źródło :
The British journal of nutrition [Br J Nutr] 2020 Aug 14; Vol. 124 (3), pp. 316-329. Date of Electronic Publication: 2020 Apr 02.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Congenital Abnormalities/*epidemiology
Dietary Supplements/*statistics & numerical data
Folic Acid/*administration & dosage
Prenatal Care/*statistics & numerical data
Vitamins/*administration & dosage
Adult ; Congenital Abnormalities/etiology ; Congenital Abnormalities/prevention & control ; Female ; Humans ; Infant, Newborn ; Male ; Maternal Nutritional Physiological Phenomena ; Norway/epidemiology ; Preconception Care/methods ; Preconception Care/statistics & numerical data ; Pregnancy ; Prenatal Care/methods ; Prospective Studies ; Registries ; Risk Factors ; Young Adult
Czasopismo naukowe
Tytuł :
Congenital arrhinia: A case report and literature review.
Autorzy :
Abukhalaf SA; Al-Quds University Faculty of Medicine, Jerusalem, Palestine. Electronic address: .
Zalloum JS; Al-Quds University Faculty of Medicine, Jerusalem, Palestine. Electronic address: .
Al Hammouri A; Al-Quds University Faculty of Medicine, Jerusalem, Palestine. Electronic address: .
Mayaleh AA; Palestine Red Crescent Society Hospital, Hebron, Palestine. Electronic address: .
Alzughayyar TZ; Al-Quds University Faculty of Medicine, Jerusalem, Palestine. Electronic address: .
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Źródło :
International journal of pediatric otorhinolaryngology [Int J Pediatr Otorhinolaryngol] 2020 Aug; Vol. 135, pp. 110083. Date of Electronic Publication: 2020 May 05.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Tracheostomy*
Congenital Abnormalities/*physiopathology
Nose/*abnormalities
Respiratory Distress Syndrome, Newborn/*physiopathology
Respiratory Tract Infections/*physiopathology
Congenital Abnormalities/pathology ; Congenital Abnormalities/surgery ; Female ; Humans ; Infant ; Mothers ; Nose/pathology ; Nose/physiopathology ; Nose/surgery ; Nose Diseases/surgery ; Reconstructive Surgical Procedures ; Recurrence ; Respiratory Distress Syndrome, Newborn/etiology ; Respiratory Tract Infections/etiology
SCR Disease Name :
Arrhinia
Czasopismo naukowe
Tytuł :
Perspectives on challenges and opportunities for birth defects surveillance programs during and after the COVID-19 era.
Autorzy :
Ludorf KL; Human Genetics Center, Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, Texas, USA.
Salemi JL; Birth Defects Surveillance Program, College of Public Health, University of South Florida, Tampa, Florida, USA.
Kirby RS; Birth Defects Surveillance Program, College of Public Health, University of South Florida, Tampa, Florida, USA.
Tanner JP; Birth Defects Surveillance Program, College of Public Health, University of South Florida, Tampa, Florida, USA.
Agopian AJ; Human Genetics Center, Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, Texas, USA.
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Źródło :
Birth defects research [Birth Defects Res] 2020 Aug; Vol. 112 (14), pp. 1039-1042. Date of Electronic Publication: 2020 May 16.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Betacoronavirus/*pathogenicity
Congenital Abnormalities/*diagnosis
Coronavirus Infections/*complications
Infectious Disease Transmission, Vertical/*prevention & control
Pneumonia, Viral/*complications
Population Surveillance/*methods
Pregnancy Complications, Infectious/*diagnosis
COVID-19 ; Congenital Abnormalities/epidemiology ; Congenital Abnormalities/virology ; Coronavirus Infections/transmission ; Coronavirus Infections/virology ; Female ; Humans ; Pandemics ; Pneumonia, Viral/transmission ; Pneumonia, Viral/virology ; Pregnancy ; Pregnancy Complications, Infectious/epidemiology ; Pregnancy Complications, Infectious/virology ; SARS-CoV-2 ; United States/epidemiology
Czasopismo naukowe
Tytuł :
Reply.
Autorzy :
Perry MF; Department of Obstetrics and Gynecology, University of Cincinnati College of Medicine, Cincinnati, OH.
DeFranco EA; Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, University of Cincinnati College of Medicine, Medical Sciences Building, Room 4407, 231 Albert Sabin Way, Cincinnati, OH 45267-0526. Electronic address: .
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Źródło :
American journal of obstetrics and gynecology [Am J Obstet Gynecol] 2020 Oct; Vol. 223 (4), pp. 611-612. Date of Electronic Publication: 2020 Jun 10.
Typ publikacji :
Letter; Comment
MeSH Terms :
Congenital Abnormalities*/epidemiology
Smoking*/adverse effects
Female ; Humans ; Pregnancy ; Risk
Opinia redakcyjna
Tytuł :
Assessment of Birth Defects and Cancer Risk in Children Conceived via In Vitro Fertilization in the US.
Autorzy :
Luke B; Department of Obstetrics, Gynecology, and Reproductive Biology, College of Human Medicine, Michigan State University, East Lansing.
Brown MB; Department of Biostatistics, School of Public Health, University of Michigan, Ann Arbor.
Nichols HB; Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina, Chapel Hill.
Schymura MJ; Bureau of Cancer Epidemiology, New York State Department of Health, Albany.
Browne ML; Birth Defects Research Section, New York State Department of Health, Albany.
Fisher SC; Birth Defects Research Section, New York State Department of Health, Albany.
Forestieri NE; Birth Defects Monitoring Program, State Center for Health Statistics, North Carolina Department of Health and Human Services, Raleigh.
Rao C; North Carolina Central Cancer Registry, State Center for Health Statistics, Division of Public Health, North Carolina Department of Health and Human Services, Raleigh.
Yazdy MM; Massachusetts Center for Birth Defects Research and Prevention, Massachusetts Department of Public Health, Boston.
Gershman ST; Massachusetts Cancer Registry, Massachusetts Department of Public Health, Boston.
Ethen MK; Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin.
Canfield MA; Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin.
Williams M; Cancer Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin.
Wantman E; Redshift Technologies, Inc., New York, New York.
Oehninger S; EVMS Health Services-Jones Institute, Virginia Beach, Virginia.
Doody KJ; Center for Assisted Reproduction, Bedford, Texas.
Eisenberg ML; Division of Male Reproductive Medicine and Surgery, Department of Urology, Stanford University School of Medicine, Palo Alto, California.
Baker VL; Division of Reproductive Endocrinology and Infertility, Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Lupo PJ; Epidemiology Program, Texas Children's Cancer and Hematology Centers, Baylor College of Medicine, Houston.
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Źródło :
JAMA network open [JAMA Netw Open] 2020 Oct 01; Vol. 3 (10), pp. e2022927. Date of Electronic Publication: 2020 Oct 01.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Congenital Abnormalities/*diagnosis
Fertilization in Vitro/*adverse effects
Neoplasms/*diagnosis
Risk Assessment/*methods
Adolescent ; Adult ; Cohort Studies ; Congenital Abnormalities/epidemiology ; Female ; Fertilization in Vitro/methods ; Fertilization in Vitro/statistics & numerical data ; Humans ; Male ; Massachusetts/epidemiology ; Neoplasms/epidemiology ; New York/epidemiology ; North Carolina/epidemiology ; Population Surveillance/methods ; Pregnancy ; Pregnancy Outcome/epidemiology ; Registries/statistics & numerical data ; Risk Assessment/statistics & numerical data ; Texas/epidemiology
Czasopismo naukowe
Tytuł :
Infants with Congenital Disorders Identified Through Newborn Screening - United States, 2015-2017.
Autorzy :
Sontag MK
Yusuf C
Grosse SD
Edelman S
Miller JI
McKasson S
Kellar-Guenther Y
Gaffney M
Hinton CF
Cuthbert C
Singh S
Ojodu J
Shapira SK
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Źródło :
MMWR. Morbidity and mortality weekly report [MMWR Morb Mortal Wkly Rep] 2020 Sep 11; Vol. 69 (36), pp. 1265-1268. Date of Electronic Publication: 2020 Sep 11.
Typ publikacji :
Journal Article
MeSH Terms :
Neonatal Screening*
Congenital Abnormalities/*diagnosis
Congenital Abnormalities/epidemiology ; Humans ; Infant, Newborn ; Prevalence ; United States/epidemiology
Czasopismo naukowe
Tytuł :
High-resolution computed tomography evaluation of congenital aural atresia - how useful is this?
Autorzy :
Gautam R; Department of Radiodiagnosis, Maulana Azad Medical College and Associated Lok Nayak, Govind Ballabh Pant Institute of Postgraduate Medical Education and Research ('GIPMER'), and Guru Nanak Eye Centre ('GNEC') Hospitals, New Delhi, Delhi, India.
Kumar J; Department of Radiodiagnosis, Maulana Azad Medical College and Associated Lok Nayak, Govind Ballabh Pant Institute of Postgraduate Medical Education and Research ('GIPMER'), and Guru Nanak Eye Centre ('GNEC') Hospitals, New Delhi, Delhi, India.
Pradhan GS; Department of Radiodiagnosis, Maulana Azad Medical College and Associated Lok Nayak, Govind Ballabh Pant Institute of Postgraduate Medical Education and Research ('GIPMER'), and Guru Nanak Eye Centre ('GNEC') Hospitals, New Delhi, Delhi, India.
Passey JC; Department of Otorhinolaryngology, Maulana Azad Medical College and Associated Lok Nayak, Govind Ballabh Pant Institute of Postgraduate Medical Education and Research ('GIPMER'), and Guru Nanak Eye Centre ('GNEC') Hospitals, New Delhi, Delhi, India.
Meher R; Department of Otorhinolaryngology, Maulana Azad Medical College and Associated Lok Nayak, Govind Ballabh Pant Institute of Postgraduate Medical Education and Research ('GIPMER'), and Guru Nanak Eye Centre ('GNEC') Hospitals, New Delhi, Delhi, India.
Mehndiratta A; Department of Radiodiagnosis, Maulana Azad Medical College and Associated Lok Nayak, Govind Ballabh Pant Institute of Postgraduate Medical Education and Research ('GIPMER'), and Guru Nanak Eye Centre ('GNEC') Hospitals, New Delhi, Delhi, India.
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Źródło :
The Journal of laryngology and otology [J Laryngol Otol] 2020 Jul; Vol. 134 (7), pp. 610-622. Date of Electronic Publication: 2020 Jul 20.
Typ publikacji :
Journal Article
MeSH Terms :
Congenital Abnormalities/*diagnostic imaging
Ear/*abnormalities
Adolescent ; Adult ; Child ; Child, Preschool ; Congenital Abnormalities/diagnosis ; Congenital Abnormalities/pathology ; Congenital Microtia/diagnosis ; Congenital Microtia/diagnostic imaging ; Cross-Sectional Studies ; Ear/diagnostic imaging ; Ear/pathology ; Ear Canal/diagnostic imaging ; Ear Canal/pathology ; Facial Nerve/diagnostic imaging ; Facial Nerve/pathology ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Temporal Bone/diagnostic imaging ; Temporal Bone/pathology ; Tomography, X-Ray Computed/methods ; Young Adult
SCR Disease Name :
Aural Atresia, Congenital
Czasopismo naukowe
Tytuł :
Family-Centered Management of Birth Defects Diagnosis and Referral in Hospital Settings in Florida.
Autorzy :
Marshall J; College of Public Health, Chiles Center, Birth Defects Surveillance Program, University of South Florida, 13201 Bruce B. Downs Boulevard, MDC 56, Tampa, FL, 33612, USA. .
Falope O; College of Public Health, Chiles Center, Birth Defects Surveillance Program, University of South Florida, 13201 Bruce B. Downs Boulevard, MDC 56, Tampa, FL, 33612, USA.
Vijayakumar N; College of Public Health, Chiles Center, Birth Defects Surveillance Program, University of South Florida, 13201 Bruce B. Downs Boulevard, MDC 56, Tampa, FL, 33612, USA.
Tanner JP; College of Public Health, Chiles Center, Birth Defects Surveillance Program, University of South Florida, 13201 Bruce B. Downs Boulevard, MDC 56, Tampa, FL, 33612, USA.
Salemi JL; College of Public Health, Chiles Center, Birth Defects Surveillance Program, University of South Florida, 13201 Bruce B. Downs Boulevard, MDC 56, Tampa, FL, 33612, USA.; Department of Family and Community Medicine, Baylor College of Medicine, 3701 Kirby Dr., Suite 600, Houston, TX, 77098, USA.
Kirby RS; College of Public Health, Chiles Center, Birth Defects Surveillance Program, University of South Florida, 13201 Bruce B. Downs Boulevard, MDC 56, Tampa, FL, 33612, USA.
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Źródło :
Maternal and child health journal [Matern Child Health J] 2020 Jun; Vol. 24 (6), pp. 777-786.
Typ publikacji :
Journal Article
MeSH Terms :
Congenital Abnormalities*/diagnosis
Congenital Abnormalities*/therapy
Patient-Centered Care*
Professional-Family Relations*
Referral and Consultation*
Florida ; Health Care Surveys ; Health Personnel ; Health Services Accessibility ; Hospitals ; Humans ; Parents
Czasopismo naukowe
Tytuł :
Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.
Autorzy :
Baldridge D; Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
Spillmann RC; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina, USA.
Wegner DJ; Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
Wambach JA; Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
White FV; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri, USA.
Sisco K; Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
Toler TL; Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
Dickson PI; Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
Cole FS; Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina, USA.
Grange DK; Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2020 May; Vol. 182 (5), pp. 1053-1065. Date of Electronic Publication: 2020 Feb 21.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Predisposition to Disease*
Abnormalities, Multiple/*genetics
Breast/*abnormalities
Congenital Abnormalities/*genetics
DNA-Binding Proteins/*genetics
Face/*abnormalities
Hematologic Diseases/*genetics
Neoplasm Proteins/*genetics
Vestibular Diseases/*genetics
Abnormalities, Multiple/diagnostic imaging ; Abnormalities, Multiple/pathology ; Adolescent ; Adult ; Breast/diagnostic imaging ; Breast/physiopathology ; Child ; Congenital Abnormalities/diagnostic imaging ; Congenital Abnormalities/physiopathology ; Face/diagnostic imaging ; Face/pathology ; Female ; Hematologic Diseases/diagnostic imaging ; Hematologic Diseases/pathology ; Humans ; Loss of Function Mutation/genetics ; Male ; Mutation/genetics ; Phenotype ; Vestibular Diseases/diagnostic imaging ; Vestibular Diseases/pathology ; Whole Exome Sequencing ; Young Adult
SCR Disease Name :
Absent breasts and nipples; Kabuki syndrome
Czasopismo naukowe
Tytuł :
Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome.
Autorzy :
Arts P; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.
Garland J; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia.
Byrne AB; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.; Australian Genomics Health Alliance, Melbourne, Victoria, Australia.
Hardy TSE; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Repromed, Dulwich, Australia.; School of Medicine, University of Adelaide, Adelaide, South Australia, Australia.
Babic M; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.
Feng J; School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.; ACRF Cancer Genomics Facility, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.
Wang P; ACRF Cancer Genomics Facility, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.
Ha T; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.
King-Smith SL; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Australian Genomics Health Alliance, Melbourne, Victoria, Australia.
Schreiber AW; School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.; ACRF Cancer Genomics Facility, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; School of Biological Sciences, University of Adelaide, Adelaide, South Australia, Australia.
Crawford A; Department of Anatomical Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.
Manton N; Department of Anatomical Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.
Moore L; School of Medicine, University of Adelaide, Adelaide, South Australia, Australia.; Department of Anatomical Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.
Barnett CP; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia.; School of Medicine, University of Adelaide, Adelaide, South Australia, Australia.
Scott HS; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.; School of Medicine, University of Adelaide, Adelaide, South Australia, Australia.; ACRF Cancer Genomics Facility, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Australian Genomics Health Alliance, Melbourne, Victoria, Australia.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2020 May; Vol. 182 (5), pp. 1273-1277. Date of Electronic Publication: 2020 Mar 06.
Typ publikacji :
Case Reports; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Perinatal Death*
Congenital Abnormalities/*genetics
Kidney/*abnormalities
Pre-B-Cell Leukemia Transcription Factor 1/*genetics
Urogenital Abnormalities/*genetics
Congenital Abnormalities/blood ; Congenital Abnormalities/mortality ; Congenital Abnormalities/pathology ; Exome ; Fathers ; Female ; Gene Frequency ; Humans ; Infant, Newborn ; Kidney/pathology ; Male ; Mosaicism ; Mutation/genetics ; Pre-B-Cell Leukemia Transcription Factor 1/blood ; Pregnancy ; Urinary Tract/pathology ; Urogenital Abnormalities/blood ; Urogenital Abnormalities/mortality ; Urogenital Abnormalities/pathology ; Whole Exome Sequencing
SCR Disease Name :
Renal Adysplasia
Raport

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