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Quoted phrase not found in phrase index: "Fetal akinesia deformation sequence 2"
Page 1
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott CE, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, Körber F, Blankenburg M, Mundlos S, Heller R, Hoffmann K. Michalk A, et al. Am J Hum Genet. 2008 Feb;82(2):464-76. doi: 10.1016/j.ajhg.2007.11.006. Am J Hum Genet. 2008. PMID: 18252226 Free PMC article.
Impaired fetal movement causes malformations, summarized as fetal akinesia deformation sequence (FADS), and is triggered by environmental and genetic factors. ...Other AChR subunits alpha1, beta1, and delta (CHRNA1, CHRNB1, CHRND) as well as receptor-a …
Impaired fetal movement causes malformations, summarized as fetal akinesia deformation sequence (FADS), and is t …
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.
Lefèvre CR, Collardeau-Frachon S, Streichenberger N, Berenguer-Martin S, Clémenson A, Massardier J, Prieur F, Laurichesse H, Laffargue F, Acquaviva-Bourdain C, Froissart R, Pettazzoni M. Lefèvre CR, et al. J Inherit Metab Dis. 2024 Mar;47(2):255-269. doi: 10.1002/jimd.12692. Epub 2023 Nov 27. J Inherit Metab Dis. 2024. PMID: 38012812 Review.
Here we describe clinical, histological, enzymatic, and molecular findings of 10 cases from 8 families, the largest case series reported so far, of severe neuromuscular forms of GSD IV along with a literature review. Main antenatal features are: fetal akinesia de …
Here we describe clinical, histological, enzymatic, and molecular findings of 10 cases from 8 families, the largest case series reported so …
Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients.
Grotto S, Cuisset JM, Marret S, Drunat S, Faure P, Audebert-Bellanger S, Desguerre I, Flurin V, Grebille AG, Guerrot AM, Journel H, Morin G, Plessis G, Renolleau S, Roume J, Simon-Bouy B, Touraine R, Willems M, Frébourg T, Verspyck E, Saugier-Veber P. Grotto S, et al. J Neuromuscul Dis. 2016 Nov 29;3(4):487-495. doi: 10.3233/JND-160177. J Neuromuscul Dis. 2016. PMID: 27911332
At birth, a vast majority had profound hypotonia, severe muscle weakness, severe respiratory distress, and cranial nerves involvement (inability to suck/swallow, facial muscles weakness). They showed characteristics of fetal akinesia deformation sequence …
At birth, a vast majority had profound hypotonia, severe muscle weakness, severe respiratory distress, and cranial nerves involvement (inabi …
Prenatal diagnosis of Pena-Shokeir syndrome type 1.
MacMillan RH, Harbert GM, Davis WD, Kelly TE. MacMillan RH, et al. Am J Med Genet. 1985 Jun;21(2):279-84. doi: 10.1002/ajmg.1320210209. Am J Med Genet. 1985. PMID: 3893126
This report describes the sonographic diagnosis of the Pena-Shokeir syndrome type 1 during the second trimester of a pregnancy which was electively terminated. ...The diagnosis was based on the recurrence of hydramnios and nonimmune hydrops in a …
This report describes the sonographic diagnosis of the Pena-Shokeir syndrome type 1 during the second tri …