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Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.
Woods CG, Bond J, Enard W. Woods CG, et al. Am J Hum Genet. 2005 May;76(5):717-28. doi: 10.1086/429930. Epub 2005 Mar 31. Am J Hum Genet. 2005. PMID: 15806441 Free PMC article. Review.
Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder. It is characterized by two principal features, microcephaly present at birth and nonprogressive mental retardation. ...
Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder. It is characterized by two pri …
Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum.
Mahmood S, Ahmad W, Hassan MJ. Mahmood S, et al. Orphanet J Rare Dis. 2011 Jun 13;6:39. doi: 10.1186/1750-1172-6-39. Orphanet J Rare Dis. 2011. PMID: 21668957 Free PMC article. Review.
Autosomal Recessive Primary Microcephaly (MCPH) is a rare disorder of neurogenic mitosis characterized by reduced head circumference at birth with variable degree of mental retardation. ...Genetic counseling and clinical management through carrier dete …
Autosomal Recessive Primary Microcephaly (MCPH) is a rare disorder of neurogenic mitosis characterized by reduce …
The Yin and Yang of Autosomal Recessive Primary Microcephaly Genes: Insights from Neurogenesis and Carcinogenesis.
Zhou X, Zhi Y, Yu J, Xu D. Zhou X, et al. Int J Mol Sci. 2020 Mar 1;21(5):1691. doi: 10.3390/ijms21051691. Int J Mol Sci. 2020. PMID: 32121580 Free PMC article. Review.
This is also evidenced by the common molecular principles regulating key processes associated with cell division and apoptosis. Autosomal recessive primary microcephaly (MCPH) is a neurogenic mitotic disorder that is characterized by decreased brain si …
This is also evidenced by the common molecular principles regulating key processes associated with cell division and apoptosis. Autosomal …
Many roads lead to primary autosomal recessive microcephaly.
Kaindl AM, Passemard S, Kumar P, Kraemer N, Issa L, Zwirner A, Gerard B, Verloes A, Mani S, Gressens P. Kaindl AM, et al. Prog Neurobiol. 2010 Mar;90(3):363-83. doi: 10.1016/j.pneurobio.2009.11.002. Epub 2009 Dec 2. Prog Neurobiol. 2010. PMID: 19931588 Review.
Autosomal recessive primary microcephaly (MCPH), historically referred to as Microcephalia vera, is a genetically and clinically heterogeneous disease. ...Genetic causes of MCPH subtypes 1-7 include mutations in genes encoding microcephalin, cyclin-dep …
Autosomal recessive primary microcephaly (MCPH), historically referred to as Microcephalia vera, is a geneticall …
What primary microcephaly can tell us about brain growth.
Cox J, Jackson AP, Bond J, Woods CG. Cox J, et al. Trends Mol Med. 2006 Aug;12(8):358-66. doi: 10.1016/j.molmed.2006.06.006. Epub 2006 Jul 10. Trends Mol Med. 2006. PMID: 16829198 Review.
Autosomal recessive primary microcephaly (MCPH) is a neuro-developmental disorder that causes a great reduction in brain growth in utero. ...At least six genes can cause this disorder and four of these have recently been identified: autosomal …
Autosomal recessive primary microcephaly (MCPH) is a neuro-developmental disorder that causes a great reduction …
What's the hype about CDK5RAP2?
Kraemer N, Issa L, Hauck SC, Mani S, Ninnemann O, Kaindl AM. Kraemer N, et al. Cell Mol Life Sci. 2011 May;68(10):1719-36. doi: 10.1007/s00018-011-0635-4. Epub 2011 Feb 17. Cell Mol Life Sci. 2011. PMID: 21327915 Review.
Cyclin dependent kinase 5 regulatory subunit-associated protein 2 (CDK5RAP2) has gained attention in the last years following the discovery, in 2005, that recessive mutations cause primary autosomal recessive microcephaly. ...
Cyclin dependent kinase 5 regulatory subunit-associated protein 2 (CDK5RAP2) has gained attention in the last years following the dis …
What next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH).
Morris-Rosendahl DJ, Kaindl AM. Morris-Rosendahl DJ, et al. Mol Cell Probes. 2015 Oct;29(5):271-81. doi: 10.1016/j.mcp.2015.05.015. Epub 2015 Jun 4. Mol Cell Probes. 2015. PMID: 26050940 Free article. Review.
One of the most noticeable outcomes of the new technology in human genetics, has been the accelerated rate of identification of disease-causing genes. Especially for rare, heterogeneous disorders, such as autosomal recessive primary microcephaly (MCPH) …
One of the most noticeable outcomes of the new technology in human genetics, has been the accelerated rate of identification of disease-caus …
Dual Molecular Diagnoses of Recessive Disorders in a Child from Consanguineous Parents: Case Report and Literature Review.
Correia-Costa GR, Dos Santos AM, de Leeuw N, Rigatto SZP, Belangero VMS, Steiner CE, Gil-da-Silva-Lopes VL, Vieira TP. Correia-Costa GR, et al. Genes (Basel). 2022 Dec 16;13(12):2377. doi: 10.3390/genes13122377. Genes (Basel). 2022. PMID: 36553645 Free PMC article. Review.
The widespread use of whole exome sequencing (WES) resulted in the discovery of multilocus pathogenic variations (MPV), defined as two or more distinct or overlapping Mendelian disorders occurring in a patient, leading to a blended phenotype. In this study, we report on a child w …
The widespread use of whole exome sequencing (WES) resulted in the discovery of multilocus pathogenic variations (MPV), defined as two or mo …
A novel variant in ASNS gene responsible for syndromic intellectual disability and microcephaly: Case report and literature review.
Jahanpanah M, Mokhtari D, Mokaber H, Arish S, Ahmadabadi F, Davarnia B. Jahanpanah M, et al. Mol Genet Genomic Med. 2024 Apr;12(4):e2424. doi: 10.1002/mgg3.2424. Mol Genet Genomic Med. 2024. PMID: 38546112 Free PMC article. Review.
BACKGROUND: The ASNS (ASNS, MIM 108370) gene variations are responsible for asparagine synthetase deficiency (ASNSD, MIM 615574), a very rare autosomal recessive disease characterized by cerebral anomalies. These patients have congenital microcephaly, progres …
BACKGROUND: The ASNS (ASNS, MIM 108370) gene variations are responsible for asparagine synthetase deficiency (ASNSD, MIM 615574), a very rar …
Cockayne's syndrome: a case report. Literature review.
Arenas-Sordo Mde L, Hernández-Zamora E, Montoya-Pérez LA, Aldape-Barrios BC. Arenas-Sordo Mde L, et al. Med Oral Patol Oral Cir Bucal. 2006 May 1;11(3):E236-8. Med Oral Patol Oral Cir Bucal. 2006. PMID: 16648759 Free article. Review.
Cockayne s syndrome is a genetic disorder with a recessive autosomal inheritance, described first by Cockayne in 1936. Patients with this syndrome present failure to thrive, short stature, premature aging, neurological alterations, photosensitivity, delayed eruption …
Cockayne s syndrome is a genetic disorder with a recessive autosomal inheritance, described first by Cockayne in 1936. Patient …
12 results