Results 121 to 130 of about 290,347 (229)

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2519-2524, November 2026.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Oral conditions of children with microcephaly associated with congenital Zika syndrome: a cross-sectional study [PDF]

The aim of the present study was to compare the oral conditions of children with congenital Zika syndrome (CZS)-associated microcephaly, non-CZS-associated microcephaly, and normotypical children, as well as to characterize their sociodemographic aspects
Ana Cristina BORGES-OLIVEIRA, Lina Naomi HASHIZUME, José Alcides Almeida de ARRUDA, Leni Verônica de Oliveira SILVA, Mauro Henrique Nogueira Guimarães de ABREU   +4 more
core   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2547-2552, November 2026.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Expanding the phenotype of CARS1 variants to include congenital hyperinsulinism

BMC Medical Genomics
Background CARS1 loss of function compound heterozygous or homozygous variants have been reported in five individuals to cause a neurodevelopmental phenotype that includes microcephaly and brittle hair and nails.
Victoria R. Sanders, Andrew C. Edmondson, Albert C. Yan, Diva D. De Leon   +3 more
doaj   +1 more source

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan, Julia Neugebauer, Marcello Bellusci, Enrico Bertini, Garry Brown, Niklas Darin, Suzanne DeBrosse, Lucy Drexler, Stefan Drexler, Gregory M. Enns, Rebecca D. Ganetzky, Kelly Gilbert, Austin Larson, Rebecca Legi, April N. Lehman, Camile Newby, Manuel Schiff, Rachel Skeath, Peter W. Stacpoole, Sarah Thompson, Emma Watt, Saskia B. Wortmann, Jirair K. Bedoyan, Shamima Rahman   +23 more
wiley   +1 more source

Tailored Amino Acid Treatment for Pediatric Patients With Mitochondrial Aminoacyl‐tRNA Synthetase Deficiencies

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Aminoacyl‐tRNA synthetases (ARSs) facilitate the loading of transfer RNAs with their cognate amino acids in the cytosol (ARS1), mitochondria (ARS2), or both (dual ARS). ARS deficiencies are clinically heterogeneous and can cause severe, occasionally fatal disease.
I. J. J. Muffels, G. Kok, Z. Tang, L. S. Medeiros, F. O. Poswar, W. P. Vermeij, R. Rodenburg, K. Smit, S. K. Sukumaran, S. B. Wortmann, L. Averdunk, J. Munch, J. Pak‐lam Ho, A. M. K. Kwok, E. E. S. Nieuwenhuis, P. M. van Hasselt, I. V. D. Schwartz, C. M. A. Lubout, A. M. Bosch, K. Koop, E. M. M. Hoytema van Konijnenburg, S. A. Fuchs   +21 more
wiley   +1 more source

Fatty Acid Oxidation Disorders Detected by Newborn Screening: Clinical, Biochemical and Genetic Spectrum in a Single‐Center Cohort

JIMD Reports, Volume 67, Issue 6, November 2026.
ABSTRACT Newborn screening (NBS) has significantly improved early detection and survival in fatty acid oxidation disorders (FAODs). However, the expanding phenotypic spectrum challenges prognostic stratification, and long‐term morbidity remains incompletely characterized.
Elena Martín‐Hernández, Delia Barrio‐Carreras, María Martín‐Cazaña, Luis Miguel García‐Cárdaba, Carmen Martín‐Fernández, Patricia Pérez‐Mohand, Teresa Hernández Chamorro, Berta Zamora Crespo, Pedro Ruiz‐Sala, Patricia Alcaide Alonso, Pilar Quijada‐Fraile   +10 more
wiley   +1 more source

Mapping the Evidence for Oropouche Virus to Inform Research Prioritisation

Reviews in Medical Virology, Volume 36, Issue 6, November 2026.
ABSTRACT Oropouche virus (OROV) infection has gained increasing public health attention due to the ongoing outbreaks in South and Central America. The World Health Organisation (WHO) lists OROV as a priority pathogen for epidemic and pandemic preparedness.
Sowsan F. Atabani, Matthew Bosworth, Amy Bobbins, Beti Evans, Zalaya Simmons, Nicola Pearce‐Smith, Julia A. Tree, Charles Dearman, Yper Hall, Daphne Duval   +9 more
wiley   +1 more source

CONGENITAL NEUROLOGICAL DISORDERS IN CHILDREN WITH MICROCEPHALY

Primary microcephaly ( PMCF) is a neurodevelopmental disorder characterized by a small brain size, primarily due to a decrease in the cerebral cortex, and varying degrees of mental retardation (Woods et al., 2005;Mahmood et al., 2011;Phan and Holland, 2021;Zaqout and Kaindl, 2021;Gupta, 2023) and several additional neurological problems such as ...
openaire   +2 more sources

Integrated Reproductive and Cytogenetic Assessment of Infertility in a Captive Jaguar (Panthera onca)

Veterinary Medicine and Science, Volume 12, Issue 6, November 2026.
Integrated reproductive and cytogenetic assessment of infertility in a captive jaguar pair identified normal chromosomal status in both individuals, whereas impaired semen quality in the male likely represents a major limiting factor for reproductive success under the observed conditions.
Marie Altmanová, Julie Strand, Kathrine Thejll Kirchhoff, Zuzana Majtánová   +3 more
wiley   +1 more source