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Quoted phrase not found in phrase index: "Microcephaly 17, 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. ...Prospective biomarker data were collected for 21 living MoCD patie …
Molybdenum cofactor deficiency (MoCD) includes three ultrarare autosomal recessive inborn errors of metabolism (MoCD type A [M …
A truncating Aspm allele leads to a complex cognitive phenotype and region-specific reductions in parvalbuminergic neurons.
Garrett L, Chang YJ, Niedermeier KM, Heermann T, Enard W, Fuchs H, Gailus-Durner V, Angelis MH, Huttner WB, Wurst W, Hölter SM. Garrett L, et al. Transl Psychiatry. 2020 Feb 13;10(1):66. doi: 10.1038/s41398-020-0686-0. Transl Psychiatry. 2020. PMID: 32066665 Free PMC article.
Neurodevelopmental disorders are heterogeneous and identifying shared genetic aetiologies and converging signalling pathways affected could improve disease diagnosis and treatment. Truncating mutations of the abnormal spindle-like microcephaly associated (ASPM) gene cause …
Neurodevelopmental disorders are heterogeneous and identifying shared genetic aetiologies and converging signalling pathways affected could …
Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly.
Marchal JA, Ghani M, Schindler D, Gavvovidis I, Winkler T, Esquitino V, Sternberg N, Busche A, Krawitz P, Hecht J, Robinson P, Mundlos S, Graul-Neumann L, Sperling K, Trimborn M, Neitzel H. Marchal JA, et al. Cell Cycle. 2011 Sep 1;10(17):2967-77. doi: 10.4161/cc.10.17.16871. Epub 2011 Sep 1. Cell Cycle. 2011. PMID: 21857152
Primary autosomal recessive microcephaly (MCPH) is a congenital disorder characterized by a pronounced reduction of brain size and mental retardation. ...
Primary autosomal recessive microcephaly (MCPH) is a congenital disorder characterized by a pronounced reduction …
Novel compound heterozygous variants in the STIL gene identified in a Chinese family with presentation of foetal microcephaly.
Cheng C, Yang Y, Zhu X, Yu X, Zhang T, Yang F, Chen F, Chen X, Zhao S, Guo J. Cheng C, et al. Eur J Med Genet. 2020 Dec;63(12):104091. doi: 10.1016/j.ejmg.2020.104091. Epub 2020 Oct 24. Eur J Med Genet. 2020. PMID: 33132204
Primary microcephaly 7 (MCPH7) is an autosomal recessive human neurodevelopmental disorder characterized by microcephaly, sloping forehead, and prominent midface. ...Ultrasound examination showed that the two foetuses suffered primary …
Primary microcephaly 7 (MCPH7) is an autosomal recessive human neurodevelopmental disorder characterized by m …
Immortalization and characterization of Nijmegen Breakage syndrome fibroblasts.
Kraakman-van der Zwet M, Overkamp WJ, Friedl AA, Klein B, Verhaegh GW, Jaspers NG, Midro AT, Eckardt-Schupp F, Lohman PH, Zdzienicka MZ. Kraakman-van der Zwet M, et al. Mutat Res. 1999 May 14;434(1):17-27. doi: 10.1016/s0921-8777(99)00009-9. Mutat Res. 1999. PMID: 10377945
Nijmegen Breakage Syndrome (NBS) is a very rare autosomal recessive chromosomal instability disorder characterized by microcephaly, growth retardation, immunodeficiency and a high incidence of malignancies. ...Immortalized NBS cells, like primary cells …
Nijmegen Breakage Syndrome (NBS) is a very rare autosomal recessive chromosomal instability disorder characterized by micro …