Results 241 to 250 of about 110,880 (279)

Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic conditions suspected in children often require genetic testing for accurate diagnoses, but testing remains costly. Case management teams review genetic test requests to improve access for patients while reducing the financial burden for medical institutions.
Cindy Y. Canales, Kathleen Shields, Meagan Choates, Paul Hillman, Laura Farach, Theresa Wittman, Kathryn Leal   +6 more
wiley   +1 more source

Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy. [PDF]

Orphanet J Rare Dis
Onuki T, Tajika M, Sugiyama Y, Shimura M, Ichimoto K, Tanaka T, Nyuzuki H, Kosuga M, Migita O, Ito T, Sasai H, Bo R, Hamada J, Hamazaki T, Sakai N, Inoue T, Nakamura K, Okuyama T, Murayama K.   +18 more
europepmc   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Timely intervention in HMG-CoA Lyase deficiency: The role of newborn screening, metabolic management, and genomic sequencing. [PDF]

Mol Genet Metab Rep
Menkovic I, Makhijani N, Francescatto L, Pendyal S, Stanley C, Young SP, Koeberl DD, Niyazov D, Stiles AR.   +8 more
europepmc   +1 more source

Reducing False Positives in Newborn Screening: The Role of Perinatal Factors in the Dutch NBS Program. [PDF]

Metabolites
Meijer NWF, Maase RE, Hall PL, Visser WF, Koop K, Bosch AM, Heiner-Fokkema MR, de Sain-van der Velden MGM, The Clir-Nbs Group.   +8 more
europepmc   +1 more source

Next-generation Sequencing and Other Second Tier Tests in Newborn Screening for (X-linked) Agammaglobulinemia. [PDF]

J Clin Immunol
Blom M, Duintjer AJ, Pico-Knijnenburg I, Imholz S, Balkassmi S, van Duyvenvoorde HA, van der Burg M.   +6 more
europepmc   +1 more source

Evaluating the Impact of Newborn Screening for Cystic Fibrosis in Portugal: A Decade of Insights and Outcomes. [PDF]

Int J Neonatal Screen
Camacho B, Pereira L, Bragança R, Castanhinha S, Penteado R, Silva TR, Miragaia P, Silva S, Cardoso AL, Barbosa T, Freitas C, Gonçalves J, Marcão A, Vilarinho L, Barreto C, Constant C.   +15 more
europepmc   +1 more source

International Survey on Phenylketonuria Newborn Screening. [PDF]

Int J Neonatal Screen
Trampuž D, Schielen PCJI, Zetterström RH, Scarpa M, Feillet F, Kožich V, Tangeraas T, Drole Torkar A, Mlinarič M, Perko D, Remec ŽI, Lampret BR, Battelino T, Isns Study Group On Pku, van Spronsen FJ, Bonham JR, Grošelj U.   +16 more
europepmc   +1 more source

Identification of an RSPH4A Founder Variant and Newborn Screening for Primary Ciliary Dyskinesia.

JAMA Netw Open
De Jesús-Rojas W, Guerra-Torres KP, Rosado-Ayala AJ, Acevedo-Soto EL, Ramos-Benitez MJ, Mosquera RA.   +5 more
europepmc   +1 more source