Results 81 to 90 of about 13,759 (208)
A Case of Prenatally Diagnosed Arthrogryposis Multiplex Congenita
Düzce Tıp Fakültesi DergisiArthrogryposis multiplex congenita (AMC) is a clinical entity characterized by reduced fetal movements (fetal akinesia), fetal growth restriction (FGR), joint contractures (arthrogryposis), facial anomalies, lung developmental delay (pulmonary hypoplasia)
Seda Atmaca Kılın +3 more
doaj +1 more source
Genetics Selection Evolution, 2003 The term arthrogryposis refers to a symptom complex that is characterised by congenital limb contractures. Arthrogryposis has been reported in man, in farm animals and in pets. Several forms have been reported to have a genetic origin in man.
Longeri Maria +5 more
doaj +1 more source
Characterizing Perinatal Treatment Patterns and Outcomes in Myasthenia Gravis
Muscle &Nerve, Volume 73, Issue 2, Page 269-276, February 2026.ABSTRACT Introduction/Aims Studies on pregnancy in myasthenia gravis (MG) are limited by small sample sizes or examine a limited number of outcomes. The objective of this study was to estimate the prevalence of perinatal and infant outcomes and characterize perinatal treatment patterns in MG.
Melanie H. Jacobson +11 more
wiley +1 more source
CDG due to Defective Membrane Transporters: Update
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT Congenital disorders of glycosylation are genetic defects in the glycoprotein and glycolipid glycan assembly and attachment. Some 200 CDG have been reported since the first clinical description in 1980. Most CDG are enzymatic deficiencies, but 13 (6.5%) are defects in the ER, Golgi apparatus (GA), and plasma membrane transporters.
D. Quelhas, C. R. Ferreira, J. Jaeken
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.We report a novel IBA57 variant in a pediatric case, with pathogenicity confirmed through familial segregation analysis, Sanger sequencing, 3D protein modeling, and evolutionary conservation studies. Mitochondrial complex activity assays demonstrated functional impairment. A comprehensive review of literature further elucidates the genotypic‐phenotypic
Jia Xu +5 more
wiley +1 more source
Manejo quirúrgico del miembro superior en la artrogriposis múltiple congénita [PDF]
, 1997 Se realiza un estudio de carácter retrospectivo descriptivo sobre el manejo quirúrgico que recibieron 16 pacientes con artrogriposis múltiple congenita en un período de 10 años, desde enero de 1983 a diciembre de 1993. Se observó que el sexo predominante
Aoun, R. +2 more
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Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients [PDF]
, 2013 The congenital myopathies include a wide spectrum of clinically, histologically and genetically variable neuromuscular disorders many of which are caused by mutations in genes for sarcomeric proteins.
El-Mezgueldi, M +9 more
core +1 more source
Exploration of Neuroprotective TherapyAim: A Zika virus outbreak that began in Brazil, developed into an international public health emergency that extended from February 2015 until November 2016.
Dhaara Shah +3 more
doaj +1 more source
Arthrogryposis multiplex congenita (A.M.C.) [PDF]
, 1960 Thesis (M.D.)--Boston ...
Kelley, Thomas A., Jr
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Interstitial deletion on chromosome 14q in prenatal diagnosis [PDF]
, 2016 A limited number of prenatal diagnosis (PND) cases have reported interstitial deletions of the long arm of chromosome 14 involving the 14q31-32 region.
Alves, C. +14 more
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