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Your search keyword '"Meiner, Vardiella"' showing total 8 results
Start Over Author "Meiner, Vardiella" Journal american journal of medical genetics part a
8 results on '"Meiner, Vardiella"'

7. The clinical spectrum of fetal Niemann–Pick type C

Author

Spiegel, Ronen, primary, Raas‐Rothschild, Annick, additional, Reish, Orit, additional, Regev, Miriam, additional, Meiner, Vardiella, additional, Bargal, Ruth, additional, Sury, Vivi, additional, Meir, Karen, additional, Nadjari, Michel, additional, Hermann, Gratiana, additional, Iancu, Theodor C., additional, Shalev, Stavit A., additional, and Zeigler, Marsha, additional

Published
2009
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8. Bi-allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families.

Author

Daum H, Ganapathi M, Hirsch Y, Griffin EL, LeDuc CA, Hagen J, Yagel S, Meiner V, Chung WK, and Mor-Shaked H

Subjects
Alleles, Animals, Exome genetics, Humans, Mice, Pedigree, Cell Cycle Proteins genetics, DNA-Binding Proteins genetics, Microcephaly genetics, Nervous System Malformations genetics, Neurodevelopmental Disorders genetics
Abstract

Exome and genome sequencing were used to identify the genetic etiology of a severe neurodevelopmental disorder in two unrelated Ashkenazi Jewish families with three affected individuals. The clinical findings included a prenatal presentation of microcephaly, polyhydramnios and clenched hands while postnatal findings included microcephaly, severe developmental delay, dysmorphism, neurologic deficits, and death in infancy. A shared rare homozygous, missense variant (c.274A > G; p.Ser92Gly, NM_024516.4) was identified in PAGR1, a gene currently not associated with a Mendelian disease. PAGR1 encodes a component of the histone methyltransferase MLL2/MLL3 complex and may function in the DNA damage response pathway. Complete knockout of the murine Pagr1a is embryonic-lethal. Given the available evidence, PAGR1 is a strong candidate gene for a novel autosomal recessive severe syndromic neurodevelopmental disorder., (© 2021 Wiley Periodicals LLC.)

Published
2022
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