Results 341 to 350 of about 1,922,511 (410)

Maternal Sirolimus Treatment Reverses Cardiac Rhabdomyoma‐Induced Hydrops Fetalis in a Twin Gestation With Tuberous Sclerosis Complex

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardiac rhabdomyomas are often the presenting sign of tuberous sclerosis complex (TSC). Prior reports have shown that maternal sirolimus treatment can reduce rhabdomyomas. We used maternal sirolimus to reverse hydrops fetalis due to a massive cardiac rhabdomyoma in a twin gestation.
David M. Ritter, Kristin Schneider, Nkiru Ezeakudo, Darcy A. Krueger, Tomoyuki Mizuno, Timothy K. Knilans, David N. Franz   +6 more
wiley   +1 more source

Can Incorporating Molecular Testing Improve the Accuracy of Newborn Screening for Congenital Adrenal Hyperplasia?

J Clin Endocrinol Metab
Sarafoglou K, Gaviglio A, Wolf C, Lorentz CP, Lteif A, Kyllo J, Radloff G, Detwiler Z, Cuthbert CD, Hodges JS, Grosse SD, Greene CN, Cordovado S.   +12 more
europepmc   +1 more source

Population-based, first-tier genomic newborn screening in the maternity ward. [PDF]

Nat Med
Boemer F, Hovhannesyan K, Piazzon F, Minner F, Mni M, Jacquemin V, Mashhadizadeh D, Benmhammed N, Bours V, Jacquinet A, Harvengt J, Bulk S, Dideberg V, Helou L, Palmeira L, Dangouloff T, BabyDetect Expert Panel, Servais L.   +17 more
europepmc   +1 more source

A National Assessment of the Newborn Screening Workforce for Metabolic Conditions, Phase Two Report [PDF]

, 2012
McGrath, Robert J., Stransky, Michelle L.   +1 more
core   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

New Project Will Improve Newborn Screening for Heart Disease Throughout New England [PDF]

, 2012
Gianino, Matt
core   +1 more source

Tension between the need for certainty and numerous uncertainties-A focus group study on various perspectives on a potential genomic newborn screening program in Germany. [PDF]

J Genet Couns
Doll ES, Mahal J, Alex K, Lerch SP, Kölker S, Schaaf CP, Winkler EC, Ditzen B.   +7 more
europepmc   +1 more source

Newborn Screening for Cystic Fibrosis Is Associated With the Lowest Healthcare Costs: A 10-Year Observational Follow-Up Study in France. [PDF]

Pediatr Pulmonol
Guyot E, Deygas F, Belhassen M, Berard M, Van Ganse E, Sermet-Gaudelus I, Tiaiba S, Dubus JC, Durieu I, Reix P.   +9 more
europepmc   +1 more source

Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community. [PDF]

Int J Neonatal Screen
Berzal-Serrano A, García-Bohórquez B, Aller E, Jaijo T, Pitarch-Castellano I, Rausell D, García-García G, Millán JM.   +7 more
europepmc   +1 more source

A high-sensitivity, high-throughput newborn screening assay for congenital cytomegalovirus-is it time for universal screening in the United Kingdom? [PDF]

Front Pediatr
Payne H, Aaltoranta M, Veikkolainen V, Kent N, Gkouleli T, Lennon A, Ramgoolam T, Adams SP.   +7 more
europepmc   +1 more source