Results 271 to 280 of about 975,602 (330)

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss, Amanda V. Karam, Julia Shalen, David E. Tunkel, Belina Y. Yi, Kelsey S. Guthrie, Emily M. Kudalkar, Anna E. Patrick, Sonja A. Rasmussen   +8 more
wiley   +1 more source

Quality improvement initiatives in maternal, infant, young child, and adolescent nutrition (MIYCAN) in India: A scoping review. [PDF]

J Family Med Prim Care
Singh M, Kaur R, Pandey G, Khanam A, Vohra K, Yadav K.   +5 more
europepmc   +1 more source

Variant Update on ASCC1: Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit, L. Kerbellec, D. Laurenceau, D. C. Ung, M. P. Moizard, N. Ronce, P. Gueguen, F. Laumonnier, A. C. Bréhin, F. Marguet, A. Laquerrière, A. M. Bergemer Fouquet, J. Cirier, S. Blesson, S. Arpin, M. Jeanne, M. L. Vuillaume   +16 more
wiley   +1 more source

Impact of foetal growth restriction and being born small for gestational age on newborn echo- and electrocardiographic measurements-a Copenhagen baby heart study. [PDF]

Eur Heart J Open
Nørskov EH, Skjellerup SL, Navne JE, Raja RA, Pærregaard MM, Sillesen AS, Raja AA, Christensen AH, Iversen KK, Bundgaard H, Boyd HA, Jeppesen DL, Vøgg ROB.   +12 more
europepmc   +1 more source

A case of large oropharyngeal glial heterotopia causing airway obstruction in a newborn: A case report and brief review of literature

Birhanu Reta, Amanuel Tesfay, Moges Tadesse Abebe, Nebiat Zerabiruk Embaye, Gebreyohans Tesfay Kidanu, Hidaya Yahya Mohammed   +5 more
openalex   +1 more source

Survey of information resources on newborn blood spot screening for parents and health professionals: a systematic review [PDF]

, 2005
Hargreaves, Katrina, Oliver, Sandy, Stewart, Ruth   +2 more
core   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Functionalities of electronic routine health information systems related to newborn data: findings of the IMPULSE study in Uganda, Ethiopia, Tanzania, and the Central African Republic. [PDF]

J Glob Health
Ayele M, Mariani I, Abathun F, Mouhamadou O, Minja J, Rornald MK, Tognon F, Day LT, Sæbø J, Fisseha H, Bundala F, Dalena P, Geremia S, Cora LG, Lawn JE, Putoto G, Waiswa P, Shamba D, Lazzerini M.   +18 more
europepmc   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Mediating effects of maternal blood lipids and glucose on the relationship between pre-pregnancy body mass index and newborn birth weight in women with gestational diabetes mellitus. [PDF]

BMC Pregnancy Childbirth
Li H, Xiang Z, Li H, Xie C, Li Z, Liang Y, Gao L, Li Z.   +7 more
europepmc   +1 more source