Results 271 to 280 of about 639,502 (342)

Value of red blood cell distribution width in evaluating 2019-nCoV infection in neonates: a retrospective study. [PDF]

Sci Rep
Li H, Wang Q, Qian L, Xu N, Zhu N, Huang L, Qiao L, Ge Q.   +7 more
europepmc   +1 more source

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

A machine learning-based model for predicting the postoperative risk of acute kidney injury in neonates. [PDF]

Transl Pediatr
He L, Gao T, Tang Y, Jin S, Zhuang M.
europepmc   +1 more source

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz   +6 more
wiley   +1 more source

High-stimulation-rate ABR predicts persistent auditory pathway dysfunction in neonates with severe hyperbilirubinemia: a 6-month longitudinal study. [PDF]

Front Neurol
Li Y, Pan Q, Li X, Pei Q, Li B, Huang R.
europepmc   +1 more source

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

Respiratory support during neonatal and infant aeromedical interfacility transfers in the Western Cape, South Africa: a retrospective review. [PDF]

BMC Emerg Med
Lourens A, Botha JC, Moys G, Stephen C, Werthmann N, Park-Ross J, Holgate S.   +6 more
europepmc   +1 more source

Effect of MRI on distortion product otoacoustic emissions in neonates : a pilot study [PDF]

, 2019
De Coen, Kris, De Leenheer, Els, Degeest, Sofie, Keppler, Hannah, Smets, Koenraad, Vinck, Bart   +5 more
core  

Streptococcus agalactiae and Escherichia coli induce distinct effector γδ T cell responses during neonatal sepsis

Lila T. Witt, Kara G Greenfield, Kathryn A. Knoop   +2 more
openalex   +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