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Quoted phrase not found in phrase index: "Fetal akinesia deformation sequence 1"
Page 1
Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)-Aetiology, diagnosis, and management.
Niles KM, Blaser S, Shannon P, Chitayat D. Niles KM, et al. Prenat Diagn. 2019 Aug;39(9):720-731. doi: 10.1002/pd.5505. Epub 2019 Jul 16. Prenat Diagn. 2019. PMID: 31218730 Review.
Complete prenatal and postnatal investigations are needed to identify an underlying aetiology and provide information regarding its prognosis and inheritance, which is critical for the obstetrical care providers and families to optimize the pregnancy management and address …
Complete prenatal and postnatal investigations are needed to identify an underlying aetiology and provide information regarding its progn …
Fetal akinesia deformation sequence syndrome associated with recessive TTN variants.
Alkhunaizi E, Martin N, Jelin AC, Rosner M, Bailey DJ, Steiner LA, Lakhani S, Ji W, Katzman PJ, Forster KR, Jarinova O, Shannon P, Chitayat D; Care4Rare Canada Consortium. Alkhunaizi E, et al. Am J Med Genet A. 2023 Mar;191(3):760-769. doi: 10.1002/ajmg.a.63071. Epub 2022 Dec 10. Am J Med Genet A. 2023. PMID: 36495114 Free PMC article.
Arthrogryposis multiplex congenita (AMC) [also known as multiple joints contracture or Fetal Akinesia Deformation Sequence (FADS)] is etiologically a heterogeneous condition with an estimated incidence of approximately 1 in 3000 live births and much hi …
Arthrogryposis multiplex congenita (AMC) [also known as multiple joints contracture or Fetal Akinesia Deformation Se …
Genetics of neuromuscular fetal akinesia in the genomics era.
Beecroft SJ, Lombard M, Mowat D, McLean C, Cairns A, Davis M, Laing NG, Ravenscroft G. Beecroft SJ, et al. J Med Genet. 2018 Aug;55(8):505-514. doi: 10.1136/jmedgenet-2018-105266. Epub 2018 Jun 29. J Med Genet. 2018. PMID: 29959180 Review.
A genetic diagnosis has clinical utility as it may affect management and prognosis and informs recurrence risk, facilitating family planning decisions. ...
A genetic diagnosis has clinical utility as it may affect management and prognosis and informs recurrence risk, facilitating family p …
Genetic diagnosis and clinical evaluation of severe fetal akinesia syndrome.
Reischer T, Liebmann-Reindl S, Bettelheim D, Balendran-Braun S, Streubel B. Reischer T, et al. Prenat Diagn. 2020 Dec;40(12):1532-1539. doi: 10.1002/pd.5809. Epub 2020 Sep 10. Prenat Diagn. 2020. PMID: 32779773 Free PMC article.
OBJECTIVE: In this retrospective study, we describe the clinical course, ultrasound findings and genetic investigations of fetuses affected by fetal akinesia. ...
OBJECTIVE: In this retrospective study, we describe the clinical course, ultrasound findings and genetic investigations of fetuses af …
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 …
Construction and evaluation of a prognosis prediction model for thyroid carcinoma based on lipid metabolism-related genes.
Wang Z, Wang F. Wang Z, et al. Neuro Endocrinol Lett. 2022 Dec 29;43(6):323-332. Neuro Endocrinol Lett. 2022. PMID: 36586126
The prognostic risk score model was established according to the four lipid metabolism genes. ...CONCLUSION: The prognosis prediction model for thyroid cancer based on lipid metabolism related genes was successfully constructed, and the model had good pred …
The prognostic risk score model was established according to the four lipid metabolism genes. ...CONCLUSION: The prognosis …
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.
Severe neuromuscular forms of GSD IV are very rare and of disastrous prognosis. Identification and characterization of these forms are important for genetic counseling for further pregnancies. Here we describe clinical, histological, enzymatic, and molecular findings of 10 …
Severe neuromuscular forms of GSD IV are very rare and of disastrous prognosis. Identification and characterization of these forms ar …
Restrictive dermopathy: a case report and a critical review of all hypotheses of its origin.
Nijsten TE, De Moor A, Colpaert CG, Robert K, Mahieu LM, Lambert J. Nijsten TE, et al. Pediatr Dermatol. 2002 Jan-Feb;19(1):67-72. doi: 10.1046/j.1525-1470.2002.00029.x. Pediatr Dermatol. 2002. PMID: 11860576 Review.
Restrictive dermopathy (RD) is a rare, fatal, autosomal recessive genodermatosis in which tautness of a translucent thin skin is the major clinical observation. This causes an intrauterine fetal akinesia deformation sequence (FADS) resulting in polyhyd …
Restrictive dermopathy (RD) is a rare, fatal, autosomal recessive genodermatosis in which tautness of a translucent thin skin is the major c …
18 results