Results 41 to 50 of about 50,519 (284)

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel, Julie McLaughlin, Marta Frigeni   +2 more
wiley   +1 more source

Effect of Rhesus D incompatibility on schizophrenia depends on offspring sex. [PDF]

, 2008
Rhesus D incompatibility increases risk for schizophrenia, with some evidence that risk is limited to male offspring. The purpose of this study is to determine whether risk for schizophrenia due to Rhesus D incompatibility differs by offspring sex using ...
Hsieh, Hsin-Ju, Lonnqvist, Jouko, Mallery, Erin, Palmer, Christina GS, Peltonen, Leena, Sinsheimer, Janet S, Turunen, Joni A, Woodward, J Arthur   +7 more
core   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

RISIKO GANGGUAN PENDENGARAN PADA NEONATUS HIPERBILIRUBINEMIA [PDF]

, 2010
Background. The prevalence of hearing impairment on the Indonesian population according to 2007 WHO data is estimated at 4.2 %, and one of the cause is neonatal hyperbilirubinemia.
Susanto, Susanto
core  

Acute Jaundice in a Six-year-old: An Unusual Presentation of Atypical Kawasaki Disease [PDF]

, 2020
Kawasaki disease (KD) is a rare vasculitis of childhood that is critical to recognize and treat due to associated morbidity and mortality. A six-year-old male presented to our emergency department (ED) afebrile but with reported recent fevers.
Bylund, LCDR William, Morrison Ponce, LCDR Daphne, Zarow, Gregory J.   +2 more
core  

A Complex Case of Cholestasis in a Patient with ABCB4 and ABCB11 Mutations [PDF]

, 2018
The low-phospholipid-associated cholelithiasis (LPAC) syndrome is a form of symptomatic cholelithiasis occurring in young adults, characterized by recurrence of symptoms after cholecystectomy and presence of hepatolithiasis.
Anapaz, V, Branco, J, Cardoso, M, Carvalho, R, Horta, D, Martins, A, Reis, J, Rodrigues, C   +7 more
core   +1 more source

Early Predictors of Hyperbilirubinemia in Full Term Newborn [PDF]

Perspectives In Medical Research, 2022
Introduction: Predictive markers enabling Pediatricians to identify which neonates will develop jaundice have mandatory for prevention of severe hyperbilirubinemia.
doaj   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Studies on the Me­chanism of Bile Pigment Formation in Vivo. Part Ⅰ. On the Cor­relation between the Production of Bile Pigments and Functions of the Parenchymal Cells of the Liver. [PDF]

, 1952
1. In normal adults and in patients of non-hepatic diseases a transient hyperbilirubinemia occurs after peroral administration of hemolysed blood. 2.
Ariji, Shigeru, Kosaka, Kiyowo, Yamaoka, Kenji   +2 more
core   +1 more source

Phenotypical and Genotypical Expansion of Autosomal‐Dominant KDM1A‐Related Neurodevelopmental Disorder Spectrum: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, Katrin Hinderhofer, Christian P. Schaaf, Markus Ries, Maja Hempel   +6 more
wiley   +1 more source