Results 171 to 180 of about 147,877 (305)

Cord Blood-Based Neonatal Screening for Hemoglobinopathies in Northern Tunisia. [PDF]

Int J Neonatal Screen
Ouragini H, Halim NB, Zitouni S, Chaouachi D, Boudrigua I, Saidani N, Kraiem I, Ayachi A, Abbes S, Mourali M, Menif S.   +10 more
europepmc   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Developing and validating a neonatal screening tool for congenital anomalies to be used in low- and middle-income country settings. [PDF]

BMJ Glob Health
Gebreselassie HA, Lakhoo K.
europepmc   +1 more source

Neonatal Screening for Cystic Fibrosis in Hungary-First-Year Experiences. [PDF]

Int J Neonatal Screen, 2023
Xue A, Lénárt I, Kincs J, Szabó H, Párniczky A, Balogh I, Deák A, Monostori PB, Hegedűs K, Szabó AJ, Szatmári I.   +10 more
europepmc   +1 more source

Exploring reference ranges for thyroid-stimulating hormone in neonatal screening tests for preterm infants: a 5-year retrospective study. [PDF]

Front Pediatr
Huang X, Xiong F, Zhu S, Yang F.
europepmc   +1 more source

Neonatal screening for spinal muscular atrophy: A pilot study in Brazil. [PDF]

Genet Mol Biol, 2023
Oliveira Netto AB, Brusius-Facchin AC, Lemos JF, Pasetto FB, Brasil CS, Trapp FB, Saute JAM, Donis KC, Becker MM, Wiest P, Coutinho VLS, Castro S, Ferreira J, Silveira C, Bittar MFR, Wang C, Lana JM, França Junior MC, Giugliani R.   +18 more
europepmc   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Neonatal Screening for Glucose-6-Phosphate Dehydrogenase (G6PD) Gene Variants and Their Association With Hyperbilirubinemia and Phototherapy Needs. [PDF]

Cureus
Alwadani IM, Almuslim R, Almutairi M, Elwahsh T.   +3 more
europepmc   +1 more source

Neonatal Screening Nationwide?

Annals of Saudi Medicine, 1992
openaire   +2 more sources

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source