Evaluation of fetal nuchal translucency in 98 pregnancies at risk for severe spinal muscular atrophy: Possible relevance of the SMN2 copy number

Journal of Maternal-Fetal and Neonatal Medicine

Volumn 25, Issue 8, 2012, Pages 1246-1249

  Parra, Juan ^a   Alias, Laura ^a,b   Also Rallo, Eva ^a,b   Martínez Hernández, Rebeca ^a,b   Senosiain, Raquel ^a   Medina, Carmen ^a   Alejos, Obdulia ^a   Rams, Noelia ^a   Amenedo, María ^a   Ormo, Filomena ^a   Jesús Barceló, María ^a,b   Calaf, Joaquim ^a   Baiget, Montserrat ^a,b   Bernal, Sara ^a,b   Tizzano, Eduardo F ^a,b  

^a UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

Congenital heart disease; nuchal translucency; prenatal diagnosis; SMN2 gene; spinal muscular atrophy

Indexed keywords

ARTICLE; CHORION VILLUS SAMPLING; CROWN RUMP LENGTH; DISEASE SEVERITY; ECHOGRAPHY; FEMALE; FETUS; GENE; GENE DOSAGE; GENETIC ANALYSIS; HUMAN; HYPOPLASTIC LEFT HEART SYNDROME; MAJOR CLINICAL STUDY; NUCHAL TRANSLUCENCY MEASUREMENT; PREDICTION; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RISK ASSESSMENT; SPINAL MUSCULAR ATROPHY; SURVIVAL MOTOR NEURON 1 GENE; SURVIVAL MOTOR NEURON 2 GENE;

COHORT STUDIES; CROWN-RUMP LENGTH; FEMALE; GENE DOSAGE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; MUSCULAR ATROPHY, SPINAL; NUCHAL TRANSLUCENCY MEASUREMENT; PREGNANCY; PRENATAL DIAGNOSIS; RISK FACTORS; SEVERITY OF ILLNESS INDEX; SURVIVAL OF MOTOR NEURON 2 PROTEIN;

EID: 84863877832     PISSN: 14767058     EISSN: 14764954     Source Type: Journal    
DOI: 10.3109/14767058.2011.636101     Document Type: Article

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