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Quoted phrase not found in phrase index: "Hereditary lethal multiple congenital anomalies/dysmorphic syndrome"
Page 1
Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature.
Siccha SM, Cueto AM, Parrón-Pajares M, González-Morán G, Pacio-Miguez M, Del Pozo Á, Solís M, Rodriguez-Jimenez C, Caino S, Fano V, Heath KE, García-Miñaúr S, Palomares-Bralo M, Santos-Simarro F. Siccha SM, et al. Am J Med Genet A. 2021 Mar;185(3):856-865. doi: 10.1002/ajmg.a.62010. Epub 2020 Dec 11. Am J Med Genet A. 2021. PMID: 33305909 Review.
Stuve-Wiedemann syndrome (SWS; MIM 601559) is a rare autosomal recessive disease caused by mutations in the leukemia inhibitor factor receptor gene (LIFR). ...We contribute to the definition of the childhood survival phenotype of SWS, emphasizing the evolving phenotype, ch …
Stuve-Wiedemann syndrome (SWS; MIM 601559) is a rare autosomal recessive disease caused by mutations in the leukemia inhibitor factor …
Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases.
Erger F, Brüchle NO, Gembruch U, Zerres K. Erger F, et al. Arch Gynecol Obstet. 2017 Apr;295(4):897-906. doi: 10.1007/s00404-017-4336-6. Epub 2017 Mar 10. Arch Gynecol Obstet. 2017. PMID: 28283827
Cases with confirmed hereditary CKD (n = 130) were analyzed as to their prenatal ultrasound findings, genotype, and possible predictors of clinical outcome. ...Renal abnormalities in Meckel syndrome (MKS) appeared earlier than in ADPKD (19.6 3.7 vs. 29 …
Cases with confirmed hereditary CKD (n = 130) were analyzed as to their prenatal ultrasound findings, genotype, and possible predi …
Genetic and physiological regulation of non-homologous end-joining in mammalian cells.
Tachibana A. Tachibana A. Adv Biophys. 2004;38:21-44. Adv Biophys. 2004. PMID: 15493326 Review.
To investigate the process in NHEJ, we have established an in vitro system to clarify the measurement and analysis of the efficiency and the fidelity of rejoining of DSBs, and applied the method to investigate NHEJ in human cells derived from patients suffering from cancer-prone …
To investigate the process in NHEJ, we have established an in vitro system to clarify the measurement and analysis of the efficiency and the …
Sudden death due to a novel nonsense mutation in Marfan syndrome.
Zhao S, Duan Y, Ma L, Shi Q, Wang K, Zhou Y. Zhao S, et al. Leg Med (Tokyo). 2021 Nov;53:101967. doi: 10.1016/j.legalmed.2021.101967. Epub 2021 Sep 24. Leg Med (Tokyo). 2021. PMID: 34598112
BACKGROUND: Marfan syndrome is a hereditary connective tissue disease accompanied by autosomal dominant inheritance; that mainly arises from a mutation in the fibrillin-1 gene (FBN1). Aortic dissection and rupture are the common and lethal complications of MF …
BACKGROUND: Marfan syndrome is a hereditary connective tissue disease accompanied by autosomal dominant inheritance; that main …
Epigenetic silencing of beta-spectrin, a TGF-beta signaling/scaffolding protein in a human cancer stem cell disorder: Beckwith-Wiedemann syndrome.
Yao ZX, Jogunoori W, Choufani S, Rashid A, Blake T, Yao W, Kreishman P, Amin R, Sidawy AA, Evans SR, Finegold M, Reddy EP, Mishra B, Weksberg R, Kumar R, Mishra L. Yao ZX, et al. J Biol Chem. 2010 Nov 12;285(46):36112-20. doi: 10.1074/jbc.M110.162347. Epub 2010 Aug 25. J Biol Chem. 2010. PMID: 20739274 Free PMC article.
Hereditary cancer syndromes provide powerful insights into dysfunctional signaling pathways that lead to sporadic cancers. Beckwith-Wiedemann syndrome (BWS) is a hereditary human cancer stem cell syndrome currently linked to deregulated imprinti …
Hereditary cancer syndromes provide powerful insights into dysfunctional signaling pathways that lead to sporadic cancers. Bec …
Differing responses of Nijmegen breakage syndrome and ataxia telangiectasia cells to ionizing radiation.
Little JB, Nagasawa H, Dahlberg WK, Zdzienicka MZ, Burma S, Chen DJ. Little JB, et al. Radiat Res. 2002 Sep;158(3):319-26. doi: 10.1667/0033-7587(2002)158[0319:dronbs]2.0.co;2. Radiat Res. 2002. PMID: 12175309
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder. Originally thought to be a variant of ataxia telangiectasia (AT), the cellular phenotype of NBS has been described as almost indistinguishable from that of AT. ...NBS cells, however, were proficient i …
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder. Originally thought to be a variant of ataxia telangiectasia …
Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome).
Heymans HS, Schutgens RB, Tan R, van den Bosch H, Borst P. Heymans HS, et al. Nature. 1983 Nov 3-9;306(5938):69-70. doi: 10.1038/306069a0. Nature. 1983. PMID: 6633659
The Zellweger syndrome is a lethal hereditary disease characterized by the absence of peroxisomes (microbodies) in liver and kidney, and variable abnormalities in mitochondria. ...We suggest that the defect in plasmalogen synthesis and possibly as yet …
The Zellweger syndrome is a lethal hereditary disease characterized by the absence of peroxisomes (microbodies) in live …
Effect of dose rate on the survival of irradiated human skin fibroblasts.
Nagasawa H, Little JB, Tsang NM, Saunders E, Tesmer J, Strniste GF. Nagasawa H, et al. Radiat Res. 1992 Dec;132(3):375-9. Radiat Res. 1992. PMID: 1475361
Cells from an ataxia telangiectasia (AT) homozygote showed no dose-rate effect, whereas a three- to fivefold increase in D0 was observed for all other cell strains exposed at low dose rates. The magnitude of the dose-rate effect did not differ significantly among cells fro …
Cells from an ataxia telangiectasia (AT) homozygote showed no dose-rate effect, whereas a three- to fivefold increase in D0 was observed …