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Wyszukujesz frazę ""Congenital Abnormalities"" wg kryterium: Temat


Tytuł :
Diagnostic and perinatal outcomes in consanguineous couples with a structural fetal anomaly: A cohort study.
Autorzy :
Mone F; Fetal Medicine Centre, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Institute of Metabolism and Systems Research, College of Medical & Dental Sciences, University of Birmingham, Birmingham, UK.
Doyle S; West Midlands Regional Genetics Laboratory and Clinical Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Ahmad A; West Midlands Regional Genetics Laboratory and Clinical Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Abu Subieh H; Fetal Medicine Centre, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Hamilton S; West Midlands Regional Genetics Laboratory and Clinical Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Allen S; West Midlands Regional Genetics Laboratory and Clinical Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Marton T; West Midland's Perinatal Pathology Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Williams D; West Midlands Regional Genetics Laboratory and Clinical Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Kilby MD; Fetal Medicine Centre, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Institute of Metabolism and Systems Research, College of Medical & Dental Sciences, University of Birmingham, Birmingham, UK.
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Źródło :
Acta obstetricia et gynecologica Scandinavica [Acta Obstet Gynecol Scand] 2021 Mar; Vol. 100 (3), pp. 418-424. Date of Electronic Publication: 2020 Nov 27.
Typ publikacji :
Journal Article
MeSH Terms :
Consanguinity*
Pregnancy Outcome*
Congenital Abnormalities/*diagnosis
Congenital Abnormalities/*genetics
Adult ; Bangladesh/ethnology ; Congenital Abnormalities/mortality ; Female ; Humans ; Infant ; Infant Mortality ; Infant, Newborn ; Male ; Pakistan/ethnology ; Pregnancy ; Prospective Studies ; Retrospective Studies ; United Kingdom
Czasopismo naukowe
Tytuł :
Exposure to air pollutants and risk of congenital anomalies: A systematic review and metaanalysis.
Autorzy :
Ravindra K; Department of Community Medicine and School of Public Health, Post Graduate Institute of Medical Education and Research, Chandigarh 160012, India. Electronic address: .
Chanana N; Department of Community Medicine and School of Public Health, Post Graduate Institute of Medical Education and Research, Chandigarh 160012, India.
Mor S; Department of Environment Sciences, Panjab University, Chandigarh 160014, India.
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Źródło :
The Science of the total environment [Sci Total Environ] 2021 Apr 15; Vol. 765, pp. 142772. Date of Electronic Publication: 2020 Oct 07.
Typ publikacji :
Journal Article; Meta-Analysis; Review; Systematic Review
MeSH Terms :
Air Pollutants*/adverse effects
Air Pollution*/adverse effects
Congenital Abnormalities*/epidemiology
Environmental Pollutants*
Databases, Factual ; Female ; Humans ; Infant, Newborn ; Maternal Exposure/adverse effects ; Nitrogen Dioxide ; Particulate Matter/adverse effects ; Pregnancy
Czasopismo naukowe
Tytuł :
[Strategies for hearing reconstruction of congenital microtia and atresia].
Autorzy :
Zhao SQ; Department of Otorhinolaryngology Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China, Email: .
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Źródło :
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery [Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi] 2021 Apr 07; Vol. 56 (4), pp. 409-413.
Typ publikacji :
Journal Article
MeSH Terms :
Congenital Abnormalities*/surgery
Congenital Microtia*/surgery
Hearing Aids*
Reconstructive Surgical Procedures*
Ear/surgery ; Hearing ; Hearing Tests ; Humans
Czasopismo naukowe
Tytuł :
The concordance rate of non-chromosomal congenital malformations in twins based on zygosity: a retrospective cohort study.
Autorzy :
Jung YM; Department of Obstetrics and Gynaecology, Seoul National University College of Medicine, Seoul, Korea.
Lee SM; Department of Obstetrics and Gynaecology, Seoul National University College of Medicine, Seoul, Korea.
Oh S; Department of Biostatistics, Seoul National University Seoul Metropolitan Government Boramae Medical Centre, Seoul, Korea.
Lyoo SH; Institute of Forensic and Anthropological Science, Medical Research Centre, Seoul National University, Seoul, Korea.
Park CW; Department of Obstetrics and Gynaecology, Seoul National University College of Medicine, Seoul, Korea.; Institute of Reproductive Medicine and Population, Medical Research Centre, Seoul National University, Seoul, Korea.
Lee SD; Institute of Forensic and Anthropological Science, Medical Research Centre, Seoul National University, Seoul, Korea.; Department of Forensic Medicine, Seoul National University College of Medicine, Seoul, Korea.
Park JS; Department of Obstetrics and Gynaecology, Seoul National University College of Medicine, Seoul, Korea.
Jun JK; Department of Obstetrics and Gynaecology, Seoul National University College of Medicine, Seoul, Korea.; Institute of Reproductive Medicine and Population, Medical Research Centre, Seoul National University, Seoul, Korea.
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Źródło :
BJOG : an international journal of obstetrics and gynaecology [BJOG] 2021 Apr; Vol. 128 (5), pp. 857-864. Date of Electronic Publication: 2020 Sep 10.
Typ publikacji :
Journal Article
MeSH Terms :
Congenital Abnormalities/*genetics
Diseases in Twins/*genetics
Twins, Dizygotic/*genetics
Twins, Monozygotic/*genetics
Congenital Abnormalities/diagnosis ; Diseases in Twins/diagnosis ; Female ; Genetic Predisposition to Disease ; Genetic Testing ; Humans ; Infant, Newborn ; Male ; Retrospective Studies ; Risk Factors
Czasopismo naukowe
Tytuł :
Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer-Rokitansky-Küster-Hauser Syndrome.
Autorzy :
Mikhael S; Section of Reproductive Endocrinology, Infertility, and Genetics, Department of Obstetrics and Gynecology, Neuroscience Program, Medical College of Georgia, Augusta University, Augusta, GA, 30912, USA. .
Dugar S; Section of Reproductive Endocrinology, Infertility, and Genetics, Department of Obstetrics and Gynecology, Neuroscience Program, Medical College of Georgia, Augusta University, Augusta, GA, 30912, USA.
Morton M; Section of Reproductive Endocrinology, Infertility, and Genetics, Department of Obstetrics and Gynecology, Neuroscience Program, Medical College of Georgia, Augusta University, Augusta, GA, 30912, USA.
Chorich LP; Section of Reproductive Endocrinology, Infertility, and Genetics, Department of Obstetrics and Gynecology, Neuroscience Program, Medical College of Georgia, Augusta University, Augusta, GA, 30912, USA.
Tam KB; Section of Reproductive Endocrinology, Infertility, and Genetics, Department of Obstetrics and Gynecology, Neuroscience Program, Medical College of Georgia, Augusta University, Augusta, GA, 30912, USA.
Lossie AC; Beautiful You MRKH Foundation, Inc., 13301 Clifton Rd, Silver Spring, MD, 20904, USA.
Kim HG; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.
Knight J; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA.
Taylor HS; Department of Obstetrics and Gynecology, Yale University School of Medicine, New Haven, CT, USA.
Mukherjee S; Department of Biological Sciences, Center for Structural Biology, Vanderbilt University, Nashville, TN, 37232, USA.
Capra JA; Department of Biological Sciences, Center for Structural Biology, Vanderbilt University, Nashville, TN, 37232, USA.
Phillips JA 3rd; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, 1211 Medical Center Drive, Nashville, TN, 37232, USA.
Friez M; Greenwood Genetic Center, 106 Gregor Mendel Circle, Greenwood, SC, 29646, USA.
Layman LC; Section of Reproductive Endocrinology, Infertility, and Genetics, Department of Obstetrics and Gynecology, Neuroscience Program, Medical College of Georgia, Augusta University, Augusta, GA, 30912, USA. .; Department of Neuroscience and Regenerative Medicine, Department of Physiology, Medical College of Georgia, Augusta University, Augusta, GA, 30912, USA. .
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Źródło :
Human genetics [Hum Genet] 2021 Apr; Vol. 140 (4), pp. 667-680. Date of Electronic Publication: 2021 Jan 19.
Typ publikacji :
Journal Article
MeSH Terms :
46, XX Disorders of Sex Development/*genetics
Congenital Abnormalities/*genetics
Mullerian Ducts/*abnormalities
Uterus/*abnormalities
Vagina/*abnormalities
46, XX Disorders of Sex Development/pathology ; Animals ; Congenital Abnormalities/pathology ; Female ; Genetic Variation ; Humans ; Male ; Mice ; Mullerian Ducts/pathology ; Translocation, Genetic ; Whole Exome Sequencing
SCR Disease Name :
Mullerian aplasia
Czasopismo naukowe
Tytuł :
Excising the neovagina due to introital atresia and closed neovaginal loop after sigmoid vaginoplasty: A case report.
Autorzy :
Wang R; Department of Critical Care Medicine.
Su Q; Department of General Surgery, Shengjing Hospital of China Medical University, China.
Yan Z; Department of General Surgery, Shengjing Hospital of China Medical University, China.
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Źródło :
Medicine [Medicine (Baltimore)] 2021 Mar 05; Vol. 100 (9), pp. e24972.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Surgically-Created Structures*
Colon, Sigmoid/*surgery
Congenital Abnormalities/*surgery
Gynecologic Surgical Procedures/*methods
Reconstructive Surgical Procedures/*methods
Vagina/*abnormalities
Congenital Abnormalities/diagnosis ; Female ; Humans ; Magnetic Resonance Imaging/methods ; Middle Aged ; Vagina/surgery
SCR Disease Name :
Vagina, absence of
Czasopismo naukowe
Tytuł :
Fetal medicine specialist experiences of providing a new service of termination of pregnancy for fatal fetal anomaly: a qualitative study.
Autorzy :
Power S; The Irish Centre for Maternal and Child Health Research (INFANT), University College Cork, Cork, Ireland.; Pregnancy Loss Research Group, Department of Obstetrics and Gynaecology, University College Cork, Cork, Ireland.
Meaney S; Pregnancy Loss Research Group, Department of Obstetrics and Gynaecology, University College Cork, Cork, Ireland.; National Perinatal Epidemiology Centre, University College Cork, Cork, Ireland.
O'Donoghue K; The Irish Centre for Maternal and Child Health Research (INFANT), University College Cork, Cork, Ireland.; Pregnancy Loss Research Group, Department of Obstetrics and Gynaecology, University College Cork, Cork, Ireland.
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Źródło :
BJOG : an international journal of obstetrics and gynaecology [BJOG] 2021 Mar; Vol. 128 (4), pp. 676-684. Date of Electronic Publication: 2020 Oct 13.
Typ publikacji :
Journal Article
MeSH Terms :
Abortion, Eugenic*/ethics
Abortion, Eugenic*/psychology
Attitude of Health Personnel*
Congenital Abnormalities*
Perinatology*/ethics
Prenatal Care*/ethics
Prenatal Care*/organization & administration
Prenatal Care*/psychology
Professional-Patient Relations*/ethics
Female ; Humans ; Interprofessional Relations ; Interviews as Topic ; Ireland ; Pregnancy ; Qualitative Research
Czasopismo naukowe
Tytuł :
Severe neonatal Marfan syndrome with a novel mutation in the intron of the FBN1 gene: A case report.
Autorzy :
Yoon SH; Department of Pediatrics, Jeonbuk National University Hospital.
Kong Y; Department of Pediatrics, Jeonbuk National University Hospital.; Research Institute of Clinical Medicine of Jeonbuk National University-Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju, Republic of Korea.
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Źródło :
Medicine [Medicine (Baltimore)] 2021 Feb 12; Vol. 100 (6), pp. e24301.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Congenital Abnormalities/*genetics
Fibrillin-1/*genetics
Introns/*genetics
Marfan Syndrome/*genetics
Cardiovascular Abnormalities/complications ; Cardiovascular System/pathology ; Congenital Abnormalities/etiology ; Exons/genetics ; Fatal Outcome ; Fibrillins/genetics ; Heart Failure/drug therapy ; Humans ; Infant, Newborn ; Male ; Mutation ; Oliguria/drug therapy
Czasopismo naukowe
Tytuł :
EFFICACY AND SENSITIVITY OF PRENATAL AND POSTNATAL ULTRASOUND SCREENING OF CONGENITAL DEVELOPMENTAL ANOMALIES OF KIDNEYS IN SLOVAKIA.
Autorzy :
Dobrovanov OY; SLOVAK MEDICAL UNIVERSITY, BRATISLAVA, SLOVAKIA; A. GETLIK CLINIC FOR CHILDREN AND ADOLESCENTS, SLOVAK MEDICAL UNIVERSITY AND UNIVERSITY HOSPITAL OF MEDICINE, BRATISLAVA, SLOVAKIA.
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Źródło :
Wiadomosci lekarskie (Warsaw, Poland : 1960) [Wiad Lek] 2021; Vol. 74 (3 cz 1), pp. 450-454.
Typ publikacji :
Journal Article
MeSH Terms :
Congenital Abnormalities*/diagnostic imaging
Congenital Abnormalities*/epidemiology
Infant, Newborn, Diseases*
Urinary Tract*/diagnostic imaging
Female ; Humans ; Infant, Newborn ; Kidney/diagnostic imaging ; Pregnancy ; Prenatal Diagnosis ; Slovakia/epidemiology
Czasopismo naukowe
Tytuł :
Neovagina Creation: A Novel Improved Laparoscopic Vecchietti Procedure in Patients with Mayer-Rokitansky-Küster-Hauster Syndrome.
Autorzy :
Wang YY; Department of Minimally Invasive Gynecologic Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing (Drs. Y. Wang, Duan, and S. Wang); Department of Minimally Invasive Gynecologic Center (Drs. Y. Wang, Duan, and S. Wang), Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing.
Duan H; Department of Minimally Invasive Gynecologic Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing (Drs. Y. Wang, Duan, and S. Wang); Department of Minimally Invasive Gynecologic Center (Drs. Y. Wang, Duan, and S. Wang), Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing. Electronic address: .
Zhang XN; Department of Obstetrics and Gynecology, Qilu Hospital of Shandong University, Jinan, Shandong Province (Dr. Zhang), China; Department of Obstetrics and Gynecology (Dr. Zhang), Qilu Hospital of Shandong University, Jinan, Shandong Province, China.
Wang S; Department of Minimally Invasive Gynecologic Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing (Drs. Y. Wang, Duan, and S. Wang); Department of Minimally Invasive Gynecologic Center (Drs. Y. Wang, Duan, and S. Wang), Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing.
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Źródło :
Journal of minimally invasive gynecology [J Minim Invasive Gynecol] 2021 Jan; Vol. 28 (1), pp. 82-92. Date of Electronic Publication: 2020 Apr 10.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Surgically-Created Structures*/pathology
46, XX Disorders of Sex Development/*surgery
Congenital Abnormalities/*surgery
Gynecologic Surgical Procedures/*methods
Laparoscopy/*methods
Mullerian Ducts/*abnormalities
Reconstructive Surgical Procedures/*methods
Vagina/*surgery
46, XX Disorders of Sex Development/epidemiology ; 46, XX Disorders of Sex Development/pathology ; Adolescent ; Adult ; Case-Control Studies ; China/epidemiology ; Congenital Abnormalities/epidemiology ; Congenital Abnormalities/pathology ; Female ; Humans ; Inventions ; Mullerian Ducts/pathology ; Mullerian Ducts/surgery ; Postoperative Complications/epidemiology ; Retrospective Studies ; Self Concept ; Sexual Dysfunction, Physiological/epidemiology ; Sexual Dysfunction, Physiological/etiology ; Therapies, Investigational/methods ; Treatment Outcome ; Vagina/abnormalities ; Vagina/pathology ; Young Adult
SCR Disease Name :
Mullerian aplasia; Vagina, absence of
Czasopismo naukowe
Tytuł :
Comprehensive assessment of the associations between maternal diabetes and structural birth defects in offspring: a phenome-wide association study.
Autorzy :
Schraw JM; Center for Epidemiology and Population Health, Department of Pediatrics, Baylor College of Medicine, Houston, TX; Section of Hematology-Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX; Texas Children's Cancer and Hematology Centers, Texas Children's Hospital, Houston, TX. Electronic address: .
Langlois PH; Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, TX; Division of Epidemiology, Human Genetics, and Environmental Sciences, University of Texas School of Public Health Austin Regional Campus, Austin, TX.
Lupo PJ; Center for Epidemiology and Population Health, Department of Pediatrics, Baylor College of Medicine, Houston, TX; Section of Hematology-Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX; Texas Children's Cancer and Hematology Centers, Texas Children's Hospital, Houston, TX.
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Źródło :
Annals of epidemiology [Ann Epidemiol] 2021 Jan; Vol. 53, pp. 14-20.e8. Date of Electronic Publication: 2020 Sep 11.
Typ publikacji :
Journal Article
MeSH Terms :
Congenital Abnormalities*/epidemiology
Congenital Abnormalities*/genetics
Diabetes, Gestational*/epidemiology
Diabetes, Gestational*/genetics
Female ; Humans ; Phenotype ; Pregnancy ; Prevalence ; Registries ; Risk Factors ; Texas/epidemiology
Czasopismo naukowe
Tytuł :
How often do we identify fetal abnormalities during routine third-trimester ultrasound? A systematic review and meta-analysis.
Autorzy :
Drukker L; Nuffield Department of Women's & Reproductive Health, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Fetal Medicine Unit, Department of Maternal and Fetal Medicine, Women's Center, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Bradburn E; Nuffield Department of Women's & Reproductive Health, John Radcliffe Hospital, University of Oxford, Oxford, UK.
Rodriguez GB; Nuffield Department of Women's & Reproductive Health, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Department of Epidemiology and Biostatistics, College of Public Health, University of Georgia, Athens, GA, USA.
Roberts NW; Bodleian Health Care Libraries, University of Oxford, Oxford, UK.
Impey L; Fetal Medicine Unit, Department of Maternal and Fetal Medicine, Women's Center, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Papageorghiou AT; Nuffield Department of Women's & Reproductive Health, John Radcliffe Hospital, University of Oxford, Oxford, UK.
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Źródło :
BJOG : an international journal of obstetrics and gynaecology [BJOG] 2021 Jan; Vol. 128 (2), pp. 259-269. Date of Electronic Publication: 2020 Sep 20.
Typ publikacji :
Journal Article; Meta-Analysis; Systematic Review
MeSH Terms :
Pregnancy Trimester, Third*
Ultrasonography, Prenatal*
Congenital Abnormalities/*diagnostic imaging
Fetal Diseases/*diagnostic imaging
Congenital Abnormalities/epidemiology ; Congenital Abnormalities/pathology ; Female ; Fetal Diseases/epidemiology ; Fetal Diseases/pathology ; Humans ; Pregnancy ; Prevalence
Czasopismo naukowe
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 :
Phenotype characterization of crossed beaks in Beijing-You chickens based on morphological observation.
Autorzy :
Shi L; Key Laboratory of Animal (Poultry) Genetics Breeding and Reproduction, Ministry of Agriculture, Institute of Animal Science, Chinese Academy of Agricultural Sciences, Beijing 100193, China.
Li Y; Key Laboratory of Animal (Poultry) Genetics Breeding and Reproduction, Ministry of Agriculture, Institute of Animal Science, Chinese Academy of Agricultural Sciences, Beijing 100193, China.
Bai H; Joint International Research Laboratory of Agriculture and Agri-Product Safety, The Ministry of Education of China, Institutes of Agricultural Science and Technology Development, Yangzhou University, Yangzhou 225009, China.
Li D; Beijing Bainianliyuan Ecological Agriculture Co., Ltd., Beijing 101500, China.
Wang P; Key Laboratory of Animal (Poultry) Genetics Breeding and Reproduction, Ministry of Agriculture, Institute of Animal Science, Chinese Academy of Agricultural Sciences, Beijing 100193, China.
Jiang L; Key Laboratory of Animal (Poultry) Genetics Breeding and Reproduction, Ministry of Agriculture, Institute of Animal Science, Chinese Academy of Agricultural Sciences, Beijing 100193, China.
Fan J; Key Laboratory of Animal (Poultry) Genetics Breeding and Reproduction, Ministry of Agriculture, Institute of Animal Science, Chinese Academy of Agricultural Sciences, Beijing 100193, China.
Ge P; Key Laboratory of Animal (Poultry) Genetics Breeding and Reproduction, Ministry of Agriculture, Institute of Animal Science, Chinese Academy of Agricultural Sciences, Beijing 100193, China.
Ni A; Key Laboratory of Animal (Poultry) Genetics Breeding and Reproduction, Ministry of Agriculture, Institute of Animal Science, Chinese Academy of Agricultural Sciences, Beijing 100193, China.
Wang Y; Key Laboratory of Animal (Poultry) Genetics Breeding and Reproduction, Ministry of Agriculture, Institute of Animal Science, Chinese Academy of Agricultural Sciences, Beijing 100193, China.
Bian S; Key Laboratory of Animal (Poultry) Genetics Breeding and Reproduction, Ministry of Agriculture, Institute of Animal Science, Chinese Academy of Agricultural Sciences, Beijing 100193, China.
Zong Y; Key Laboratory of Animal (Poultry) Genetics Breeding and Reproduction, Ministry of Agriculture, Institute of Animal Science, Chinese Academy of Agricultural Sciences, Beijing 100193, China.
Isa AM; Key Laboratory of Animal (Poultry) Genetics Breeding and Reproduction, Ministry of Agriculture, Institute of Animal Science, Chinese Academy of Agricultural Sciences, Beijing 100193, China.
Tesfay HH; Key Laboratory of Animal (Poultry) Genetics Breeding and Reproduction, Ministry of Agriculture, Institute of Animal Science, Chinese Academy of Agricultural Sciences, Beijing 100193, China.
Ma H; Key Laboratory of Animal (Poultry) Genetics Breeding and Reproduction, Ministry of Agriculture, Institute of Animal Science, Chinese Academy of Agricultural Sciences, Beijing 100193, China.
Gong Y; Key Laboratory of Agricultural Animal Genetics, Breeding and Reproduction, Ministry of Education, Huazhong Agricultural University, Wuhan 430070, China.
Sun Y; Key Laboratory of Animal (Poultry) Genetics Breeding and Reproduction, Ministry of Agriculture, Institute of Animal Science, Chinese Academy of Agricultural Sciences, Beijing 100193, China. Electronic address: .
Chen J; Key Laboratory of Animal (Poultry) Genetics Breeding and Reproduction, Ministry of Agriculture, Institute of Animal Science, Chinese Academy of Agricultural Sciences, Beijing 100193, China. Electronic address: .
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Źródło :
Poultry science [Poult Sci] 2020 Nov; Vol. 99 (11), pp. 5197-5205. Date of Electronic Publication: 2020 Aug 15.
Typ publikacji :
Journal Article
MeSH Terms :
Beak*/abnormalities
Beak*/anatomy & histology
Chickens*/anatomy & histology
Congenital Abnormalities*/epidemiology
Congenital Abnormalities*/pathology
Congenital Abnormalities*/veterinary
Animals ; Beijing/epidemiology ; Female ; Incidence ; Mandible/abnormalities ; Phenotype
Czasopismo naukowe
Tytuł :
Cystic biliary atresia with congenital absence of portal vein.
Autorzy :
Nandan R; Department of Pediatric Surgery, All India Institute of Medical Sciences, New Delhi, Delhi, India.
Jana M; Radiodiagnosis, All India Institute of Medical Sciences (AIIMS), New Delhi, Delhi, India.
Yadav DK; Department of Pediatric Surgery, All India Institute of Medical Sciences, New Delhi, Delhi, India .
Goel P; Department of Pediatric Surgery, All India Institute of Medical Sciences, New Delhi, Delhi, India.
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Źródło :
BMJ case reports [BMJ Case Rep] 2021 Jan 18; Vol. 14 (1). Date of Electronic Publication: 2021 Jan 18.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Biliary Atresia/*diagnosis
Congenital Abnormalities/*diagnosis
Gallbladder/*abnormalities
Portal Vein/*abnormalities
Biliary Atresia/etiology ; Biliary Atresia/surgery ; Congenital Abnormalities/surgery ; Fatal Outcome ; Female ; Gallbladder/surgery ; Humans ; Infant
SCR Disease Name :
Gallbladder, Agenesis Of
Czasopismo naukowe
Tytuł :
[Clinical and genetic analysis of a novel CHD4 gene variant in a Chinese patient with Sifrim-Hitz-Weiss syndrome].
Autorzy :
Zhou X; Dongguan Maternal and Child Health Care Hospital, Dongguan, Guangdong 523120, China. .
Wang Q
Liu Y
Liu J
Yuan H
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Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Jan 10; Vol. 38 (1), pp. 63-66.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Congenital Abnormalities*/genetics
Genetic Testing*
Mi-2 Nucleosome Remodeling and Deacetylase Complex*/genetics
Child, Preschool ; China ; Female ; Genetic Association Studies ; Humans ; Phenotype ; Pregnancy ; Syndrome ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Prenatal diagnosis of fetal anomalies from the third to the first trimester and back.
Autorzy :
Jauniaux E; EGA Institute for Women's Health, Faculty of Population Health Sciences, University College London, London, UK.
Prefumo F; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
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Źródło :
BJOG : an international journal of obstetrics and gynaecology [BJOG] 2021 Jan; Vol. 128 (2), pp. 271. Date of Electronic Publication: 2020 Oct 16.
Typ publikacji :
Historical Article; Journal Article
MeSH Terms :
Congenital Abnormalities/*history
Fetal Diseases/*history
Prenatal Diagnosis/*history
Congenital Abnormalities/diagnosis ; Female ; Fetal Diseases/diagnosis ; History, 20th Century ; Humans ; Pregnancy ; Pregnancy Trimesters
Czasopismo naukowe
Tytuł :
[Congenital high airway obstruction syndrome (CHAOS): a case report].
Autorzy :
Moussaoui KE; Département de Gynécologie Obstétrique, Maternité Souissi, CHU Ibn Sina, Rabat, Maroc.
Slaoui A; Département de Gynécologie Obstétrique, Maternité Souissi, CHU Ibn Sina, Rabat, Maroc.
Baidada A; Département de Gynécologie Obstétrique, Maternité Souissi, CHU Ibn Sina, Rabat, Maroc.
Kharabch A; Département de Gynécologie Obstétrique, Maternité Souissi, CHU Ibn Sina, Rabat, Maroc.
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Transliterated Title :
Syndrome congénital d´obstruction des voies aériennes supérieures (syndrome du CHAOS): à propos d’un cas.
Źródło :
The Pan African medical journal [Pan Afr Med J] 2021 Jan 01; Vol. 38, pp. 1. Date of Electronic Publication: 2021 Jan 01 (Print Publication: 2021).
Typ publikacji :
Case Reports
MeSH Terms :
Airway Obstruction/*diagnostic imaging
Congenital Abnormalities/*diagnostic imaging
Hydrops Fetalis/*diagnostic imaging
Airway Obstruction/complications ; Airway Obstruction/congenital ; Congenital Abnormalities/physiopathology ; Fatal Outcome ; Female ; Humans ; Hydrops Fetalis/etiology ; Infant, Newborn ; Karyotyping ; Pregnancy ; Pregnancy Outcome ; Syndrome ; Ultrasonography, Prenatal ; Young Adult
Raport
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 :
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

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