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Quoted phrase not found in phrase index: "Microcephaly 3, primary, autosomal recessive"
Page 1
Molybdenum cofactor deficiency: A natural history.
Spiegel R, Schwahn BC, Squires L, Confer N. Spiegel R, et al. J Inherit Metab Dis. 2022 May;45(3):456-469. doi: 10.1002/jimd.12488. Epub 2022 Mar 3. J Inherit Metab Dis. 2022. PMID: 35192225 Free PMC article.
Molybdenum cofactor deficiency (MoCD) includes three ultrarare autosomal recessive inborn errors of metabolism (MoCD type A [MoCD-A], MoCD-B, and MoCD-C) that cause sulfite intoxication disorders. ...The most common presenting symptoms in the overall population were …
Molybdenum cofactor deficiency (MoCD) includes three ultrarare autosomal recessive inborn errors of metabolism (MoCD type A [M …
Clinical course and therapeutic implications for lymphoid malignancies in Nijmegen breakage syndrome.
Pastorczak A, Szczepanski T, Mlynarski W; International Berlin-Frankfurt-Munster (I-BFM) ALL host genetic variation working group. Pastorczak A, et al. Eur J Med Genet. 2016 Mar;59(3):126-32. doi: 10.1016/j.ejmg.2016.01.007. Epub 2016 Jan 27. Eur J Med Genet. 2016. PMID: 26826318 Review.
Nijmegen breakage syndrome (NBS, MIM #251260) is an autosomal recessive chromosomal instability disorder. Majority of patients affected are of Slavic origin and share the same founder mutation of 657del5 within the NBN gene encoding protein involved in DNA double-st …
Nijmegen breakage syndrome (NBS, MIM #251260) is an autosomal recessive chromosomal instability disorder. Majority of patients …
Novel variant in BRAT1 with the lethal neonatal rigidity and multifocal seizure syndrome.
Li W, Wu S, Xu H, Zhao X, Pan Y, Huang H, Lv H, Zhu X, Liu Y. Li W, et al. Pediatr Res. 2022 Feb;91(3):565-571. doi: 10.1038/s41390-021-01468-9. Epub 2021 Mar 31. Pediatr Res. 2022. PMID: 33790413
Meanwhile, R78P BRAT1 was positively correlated with temporal lobe epilepsy, autosomal recessive primary microcephaly, defective/absent horizontal voluntary eye movements, and neuron apoptotic process as indicated by gene set enrichment analysis (GSEA) …
Meanwhile, R78P BRAT1 was positively correlated with temporal lobe epilepsy, autosomal recessive primary microcephal …
Novel Pathogenic Mutation Mapping of ASPM Gene in Consanguineous Pakistani Families with Primary Microcephaly.
Batool T, Irshad S, Mahmood K. Batool T, et al. Braz J Biol. 2021 Aug 6;83:e246040. doi: 10.1590/1519-6984.246040. eCollection 2021. Braz J Biol. 2021. PMID: 34378666 Free article.
Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder characterized by a congenitally reduced head circumference (-3 to -5 SD) and non-progressive intellectual disability. The objective of the study was to evaluate pat …
Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder characterized by a congenitally …
Novel protein-truncating mutations in the ASPM gene in families with autosomal recessive primary microcephaly.
Gul A, Tariq M, Khan MN, Hassan MJ, Ali G, Ahmad W. Gul A, et al. J Neurogenet. 2007 Jul-Sep;21(3):153-63. doi: 10.1080/01677060701508594. J Neurogenet. 2007. PMID: 17849285
Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder that causes reduction in brain size. ...In the present study, we have ascertained ten Pakistani and one Kashmiri family with primary microcephaly. We screene …
Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder that causes reduction in brain …
A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability.
Nardello R, Fontana A, Antona V, Beninati A, Mangano GD, Stallone MC, Mangano S. Nardello R, et al. Brain Dev. 2018 Jan;40(1):58-64. doi: 10.1016/j.braindev.2017.07.003. Epub 2017 Jul 26. Brain Dev. 2018. PMID: 28756000
The autosomal recessive form of primary microcephaly (MCPH) is a rare disorder characterized by head circumference of at least 3 standard deviation below the mean. ...It has been reported that WDR62 is the second causative gene of autosomal …
The autosomal recessive form of primary microcephaly (MCPH) is a rare disorder characterized by head circumferen …
Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly.
Kumar A, Girimaji SC, Duvvari MR, Blanton SH. Kumar A, et al. Am J Hum Genet. 2009 Feb;84(2):286-90. doi: 10.1016/j.ajhg.2009.01.017. Am J Hum Genet. 2009. PMID: 19215732 Free PMC article.
Primary microcephaly (MCPH) is an autosomal-recessive congenital disorder characterized by smaller-than-normal brain size and mental retardation. ...We report mapping of a novel locus, MCPH7, to chromosome 1p32.3-p33 between markers D1S2797 and …
Primary microcephaly (MCPH) is an autosomal-recessive congenital disorder characterized by smaller-than-normal b …
Primary hypogonadism, partial alopecia, and Mullerian hypoplasia: report of a third family and review.
Tatar A, Ocak Z, Tatar A, Yesilyurt A, Borekci B, Oztas S. Tatar A, et al. Am J Med Genet A. 2009 Mar;149A(3):501-4. doi: 10.1002/ajmg.a.32645. Am J Med Genet A. 2009. PMID: 19213036 Review.
Two sisters presented with partial alopecia, primary hypergonadotropic hypogonadism and Mullerian hypoplasia associated with mild mental retardation, microcephaly, flat occiput, sparse eyebrows, absence of breast tissue, absent ovaries, mild-moderate dorsal kyphosis …
Two sisters presented with partial alopecia, primary hypergonadotropic hypogonadism and Mullerian hypoplasia associated with mild men …
Human brain evolution and the "Neuroevolutionary Time-depth Principle:" Implications for the Reclassification of fear-circuitry-related traits in DSM-V and for studying resilience to warzone-related posttraumatic stress disorder.
Bracha HS. Bracha HS. Prog Neuropsychopharmacol Biol Psychiatry. 2006 Jul;30(5):827-53. doi: 10.1016/j.pnpbp.2006.01.008. Epub 2006 Mar 23. Prog Neuropsychopharmacol Biol Psychiatry. 2006. PMID: 16563589 Free PMC article. Review.
The author critically reviews the neuroevolutionary literature on stress-induced and fear circuitry disorders and related amygdala-driven, species-atypical fear behaviors of clinical severity in adult humans. Over 30 empirically testable/falsifiable predictions are present …
The author critically reviews the neuroevolutionary literature on stress-induced and fear circuitry disorders and related amygdala-driven, s …
Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly.
Seeman P, Gebertová K, Paderová K, Sperling K, Seemanová E. Seeman P, et al. Pediatr Neurol. 2004 Mar;30(3):195-200. doi: 10.1016/j.pediatrneurol.2003.07.003. Pediatr Neurol. 2004. PMID: 15033202
The Nijmegen breakage syndrome is a rare autosomal recessive chromosomal instability disorder characterized by early growth retardation, congenital microcephaly, immunodeficiency, borderline mental development, and a high tendency to lymphoreticular malignanc …
The Nijmegen breakage syndrome is a rare autosomal recessive chromosomal instability disorder characterized by early growth re …
12 results