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American Journal of Obstetrics and Gynecology, ISSN 0002-9378, 2014, Volume 211, Issue 6, pp. 675.e1 - 675.e19
Objective We sought to examine the association between increased first-trimester fetal nuchal translucency (NT) measurement and major noncardiac structural... 
Obstetrics and Gynecology | congenital birth defects | increased nuchal translucency | normal karyotype | prenatal screening | 1ST-TRIMESTER | GESTATION | CHROMOSOMALLY NORMAL FETUSES | PROGRAM | PREGNANCY | PATHOPHYSIOLOGY | OBSTETRICS & GYNECOLOGY | Urogenital Abnormalities - diagnostic imaging | Bone Diseases, Metabolic - epidemiology | Congenital Abnormalities - epidemiology | Intestine, Small - abnormalities | Musculoskeletal Abnormalities - epidemiology | Urogenital Abnormalities - epidemiology | Humans | Lung - abnormalities | Risk | Lung - diagnostic imaging | Nervous System Malformations - diagnostic imaging | Lung Diseases - diagnostic imaging | Young Adult | Hydrocephalus - diagnostic imaging | Abnormalities, Multiple - epidemiology | Hydrocephalus - epidemiology | Adult | Female | Intestinal Atresia - epidemiology | Diaphragm - abnormalities | Bone Diseases, Metabolic - diagnostic imaging | Musculoskeletal Abnormalities - diagnostic imaging | Abnormalities, Multiple - diagnostic imaging | Logistic Models | Congenital Abnormalities - diagnostic imaging | Nervous System Malformations - epidemiology | Pregnancy | Bone Diseases, Metabolic - congenital | Ultrasonography, Prenatal | Intestinal Atresia - diagnostic imaging | Nuchal Translucency Measurement | Adolescent | Intestine, Small - diagnostic imaging | Lung Diseases - epidemiology | Cohort Studies | Measurement | Infants | Birth defects | Public health
Journal Article
Prenatal Diagnosis, ISSN 0197-3851, 01/2011, Volume 31, Issue 1, pp. 90 - 102
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 08/2017, Volume 54, Issue 8, pp. 521 - 529
Journal Article
Prenatal Diagnosis, ISSN 0197-3851, 07/2016, Volume 36, Issue 7, pp. 650 - 655
Journal Article
Best Practice & Research: Clinical Obstetrics & Gynaecology, ISSN 1521-6934, 2014, Volume 28, Issue 3, pp. 403 - 415
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 01/2012, Volume 49, Issue 1, pp. 47 - 57
Journal Article
Clinical Journal of the American Society of Nephrology, ISSN 1555-9041, 12/2017, Volume 12, Issue 12, pp. 1962 - 1973
Background and objectives Joubert syndrome is a genetically heterogeneous ciliopathy associated with >30 genes. The characteristics of kidney disease and... 
Cerebellum | Hypertension | Polycystic kidney, autosomal recessive | Nephronophthisis | Joubert syndrome 1 | Ciliopathies | Retina | Cystic kidney | Prospective studies | Kidney diseases, cystic | Abnormalities, multiple | Genetic renal disease | Kidney | Sequence analysis, DNA | Pregnancy | Ciliopathy | Multicystic dysplastic kidney | Eye abnormalities | Phenotype | Kidney failure, chronic | Genetic association studies | Ultrasonography, prenatal | Mutation | Polycystic kidney disease | URINARY-TRACT MALFORMATIONS | MULTICYSTIC DYSPLASTIC KIDNEY | UROLOGY & NEPHROLOGY | FOLLOW-UP | DISORDERS | MUTATIONS | ATAXIA | SENIOR-LOKEN | MOLAR TOOTH SIGN | CHILDREN | Abnormalities, Multiple - metabolism | Retina - metabolism | Eye Abnormalities - diagnostic imaging | Prospective Studies | Multicystic Dysplastic Kidney - complications | Humans | Child, Preschool | Kidney Diseases, Cystic - diagnostic imaging | Infant | Male | Cerebellum - abnormalities | Polycystic Kidney, Autosomal Recessive - genetics | Young Adult | Cerebellum - diagnostic imaging | Polycystic Kidney, Autosomal Recessive - complications | Cell Cycle Proteins - genetics | Kidney Diseases, Cystic - genetics | Adult | Female | Neoplasm Proteins - genetics | Child | Eye Abnormalities - metabolism | Abnormalities, Multiple - genetics | Antigens, Neoplasm - genetics | Multicystic Dysplastic Kidney - genetics | Membrane Proteins - genetics | Cerebellum - metabolism | Abnormalities, Multiple - diagnostic imaging | Genotype | Eye Abnormalities - genetics | Polycystic Kidney, Autosomal Recessive - diagnostic imaging | Kidney Failure, Chronic - genetics | Proteins - genetics | Magnetic Resonance Imaging | Retina - diagnostic imaging | Kidney Diseases, Cystic - metabolism | Multicystic Dysplastic Kidney - diagnostic imaging | Ultrasonography, Prenatal | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Age of Onset | Retina - abnormalities | Kidney Diseases, Cystic - complications | Kidney Diseases, Cystic - congenital | Eye Abnormalities - complications | Kidney Failure, Chronic - etiology | nephronophthisis | cystic kidney | kidney | Eye Abnormalities | polycystic kidney disease | Kidney Diseases, Cystic | Multicystic Dysplastic Kidney | Polycystic Kidney, Autosomal Recessive | Genetic Association Studies | Abnormalities, Multiple | Sequence Analysis, DNA | genetic renal disease | ciliopathy | Kidney Failure, Chronic | Original | hypertension
Journal Article
Journal Article
Journal of the American Academy of Dermatology, ISSN 0190-9622, 11/2017, Volume 77, Issue 5, pp. 874 - 878
CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies) syndrome is associated with regional bony and/or soft... 
diffuse capillary malformation | macrocephaly–capillary malformation | overgrowth | Wilms tumor | CRITERIA | LIMB | macrocephaly-capillary malformation | MUTATION | RISK | VENOUS MALFORMATION | DERMATOLOGY | Megalencephaly - pathology | Age Distribution | Skin Diseases, Vascular - epidemiology | Capillaries - pathology | Follow-Up Studies | Megalencephaly - diagnostic imaging | Humans | Child, Preschool | Male | Musculoskeletal Abnormalities - pathology | Neonatal Screening | Wilms Tumor - diagnostic imaging | Incidence | Time Factors | Abnormalities, Multiple - epidemiology | Lipoma - epidemiology | Infant, Newborn | Nevus - diagnostic imaging | Risk Assessment | Comorbidity | Musculoskeletal Abnormalities - diagnostic imaging | Nevus - epidemiology | Vascular Malformations - epidemiology | Vascular Malformations - pathology | Magnetic Resonance Imaging | Kidney Neoplasms - diagnostic imaging | Nevus - pathology | Wilms Tumor - epidemiology | Cohort Studies | Abnormalities, Multiple - pathology | Musculoskeletal Abnormalities - epidemiology | Kidney Neoplasms - epidemiology | Infant | Lipoma - pathology | Telangiectasis - diagnostic imaging | Skin Diseases, Vascular - diagnostic imaging | Female | Retrospective Studies | Telangiectasis - pathology | Databases, Factual | Severity of Illness Index | Vascular Malformations - diagnostic imaging | Abnormalities, Multiple - diagnostic imaging | Rare Diseases | Telangiectasis - congenital | Wilms Tumor - pathology | Telangiectasis - epidemiology | Megalencephaly - epidemiology | Sex Distribution | Kidney Neoplasms - pathology | Lipoma - diagnostic imaging | Capillaries - abnormalities | Capillaries - diagnostic imaging | Skin Diseases, Vascular - pathology | Nephroblastoma | Genetic disorders | Tumors | Medicine, Experimental | Medical research
Journal Article
Prenatal Diagnosis, ISSN 0197-3851, 12/2016, Volume 36, Issue 13, pp. 1270 - 1275
Journal Article