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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 | Index Medicus | Abridged Index Medicus
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 | Index Medicus
Journal Article
Prenatal Diagnosis, ISSN 0197-3851, 07/2016, Volume 36, Issue 7, pp. 650 - 655
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 08/2017, Volume 54, Issue 8, pp. 521 - 529
Journal Article
Journal of medical genetics, ISSN 0022-2593, 2012, Volume 49, Issue 1, pp. 47 - 57
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 04/2017, Volume 32, Issue 4, pp. 757 - 769
In 1985, we briefly characterized “congenital sclerosing osteomalacia with cerebral calcification” (CSOCC) in infant sisters. Later, Raine syndrome (RNS)... 
CRANIOFACIAL DYSOSTOSIS | OSTEOMALACIA | RICKETS | DENTIN MATRIX PROTEIN | KINASE | PHOSPHOPROTEOME | CROUZON SYNDROME | CRANIOSYNOSTOSIS | HYPOPHOSPHATEMIA | SIBLING PROTEINS | OSTEOPONTIN | METOPIC SUTURE | MINERALIZATION | OSTEOSCLEROSIS | OSTEOPETROSIS | TRIGONOCEPHALY | AUTOSOMAL RECESSIVE SYNDROME | INTRACRANIAL CALCIFICATION | HYPOPLASTIC NOSE | SECRETED PROTEINS | ENDOCRINOLOGY & METABOLISM | OSTEOSCLEROTIC BONE DYSPLASIA | ANHYDRASE-II DEFICIENCY | CASEIN KINASE | RENAL TUBULAR-ACIDOSIS | Abnormalities, Multiple - metabolism | Calcinosis - genetics | Microcephaly - genetics | Cerebrum - diagnostic imaging | Casein Kinase I - genetics | Osteomalacia - diagnostic imaging | Humans | Calcinosis - diagnostic imaging | Male | Cleft Palate - genetics | Exophthalmos - genetics | Osteosclerosis - metabolism | Adult | Cerebrum - metabolism | Female | Osteomalacia - metabolism | Osteosclerosis - genetics | Calcinosis - metabolism | Cleft Palate - diagnostic imaging | Cerebrum - pathology | Osteosclerosis - diagnostic imaging | Abnormalities, Multiple - genetics | Extracellular Matrix Proteins - metabolism | Infant, Newborn | Extracellular Matrix Proteins - genetics | Microcephaly - metabolism | Abnormalities, Multiple - diagnostic imaging | Exophthalmos - diagnostic imaging | Microcephaly - diagnostic imaging | Osteomalacia - genetics | Exophthalmos - metabolism | Casein Kinase I - metabolism | Cleft Palate - metabolism | Medical research | Dysplasia | Genetic disorders | Calcification | Medicine, Experimental | Genetics | Genetic aspects | Histochemistry | Index Medicus
Journal Article
Journal Article
Prenatal Diagnosis, ISSN 0197-3851, 11/2015, Volume 35, Issue 11, pp. 1073 - 1078
Journal Article
Osteoporosis International, ISSN 0937-941X, 3/2019, Volume 30, Issue 3, pp. 685 - 689
Raine syndrome is characterized by FGF23-mediated hypophosphatemic osteomalacia with osteosclerosis caused by mutations in the FAM20C gene. We report a case of... 
High bone mass | Medicine & Public Health | Orthopedics | Rheumatology | FAM20C | Osteomalacia | Endocrinology | Raine syndrome | TRANSIENT OSTEOPOROSIS | ENDOCRINOLOGY & METABOLISM | HIP | Microcephaly - genetics | Casein Kinase I - genetics | Humans | Male | Cleft Palate - genetics | Mutation, Missense | Osteonecrosis - diagnostic imaging | Osteonecrosis - genetics | Knee Joint - pathology | Exophthalmos - genetics | Microcephaly - physiopathology | Osteosclerosis - genetics | Cleft Palate - diagnostic imaging | Osteosclerosis - diagnostic imaging | Abnormalities, Multiple - genetics | Bone Density | Extracellular Matrix Proteins - genetics | Knee Joint - diagnostic imaging | Abnormalities, Multiple - diagnostic imaging | Exophthalmos - physiopathology | Cleft Palate - physiopathology | Exophthalmos - diagnostic imaging | Microcephaly - diagnostic imaging | Abnormalities, Multiple - physiopathology | Radiography | Magnetic Resonance Imaging | Aged | Osteosclerosis - physiopathology | Osteonecrosis - physiopathology | Gene mutations | Physiological aspects | Bones | Genetic aspects | Research | Risk factors | Necrosis | Knee | Dual energy X-ray absorptiometry | Radius | Phenotypes | Splicing | Fibroblast growth factor 23 | Spine (lumbar) | Case reports | Osteonecrosis | Bone turnover | Bone (trabecular) | Hip | Bone mass | Missense mutation | Computed tomography | Vitamin D | Tibia | Osteosclerosis | Hypophosphatemia | Mutation | Geriatrics
Journal Article
Journal Article
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 04/2009, Volume 80, Issue 4, pp. 392 - 399
Journal Article