Results 181 to 190 of about 280,708 (291)

Neonatal screening for primary and central congenital hypothyroidism: is it time to go Dutch? [PDF]

Eur Thyroid J, 2023
Boelen A, Zwaveling-Soonawala N, Heijboer AC, van Trotsenburg ASP.   +3 more
europepmc   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

The Importance of Neonatal Screening for Galactosemia. [PDF]

Nutrients, 2022
Badiu Tișa I, Achim AC, Cozma-Petruț A.   +2 more
europepmc   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Embracing the future: Neonatal screening for epileptic syndromes. [PDF]

Epilepsia
Nabbout R, Kuchenbuch M.
europepmc   +1 more source

PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening. [PDF]

Metabolites, 2023
Achleitner MT, Jans JJM, Ebner L, Spenger J, Konstantopoulou V, Feichtinger RG, Brugger K, Mayr D, Wevers RA, Thiel C, Wortmann SB, Mayr JA.   +11 more
europepmc   +1 more source

Cryohydrocytosis: When Cold Breaks the Membrane

American Journal of Hematology, EarlyView.
Athina Ntoumaziou, Mary Risinger, Yasmin Elgammal, Wenying Zhang, Theodosia A. Kalfa, Luke R. Smart   +5 more
wiley   +1 more source

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

Findings supporting neonatal screening for sickle cell disease: an observational study in Senegal. [PDF]

Front Pediatr
Petigas L, Seck N, Doupa D, Diagne I, Roth-Kleiner M.   +4 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