Duplication 16q12. 1–q22. 1 characterized by array CGH in a girl with spina bifida
We report a 7-year-old girl with spina bifida carrying a complex chromosome abnormality
resulting in duplication 16q12. 1–q22. 1. An abnormal karyotype was identified involving the …
resulting in duplication 16q12. 1–q22. 1. An abnormal karyotype was identified involving the …
Abnormal level of CUL4B-mediated histone H2A ubiquitination causes disruptive HOX gene expression
Y Lin, J Yu, J Wu, S Wang, T Zhang - Epigenetics & Chromatin, 2019 - Springer
Abstract Background Neural tube defects (NTDs) are common birth defects involving the
central nervous system. Recent studies on the etiology of human NTDs have raised the …
central nervous system. Recent studies on the etiology of human NTDs have raised the …
Refinement of 2q and 7p loci in a large multiplex NTD family
DS Stamm, DG Siegel, L Mehltretter… - … Research Part A …, 2008 - Wiley Online Library
BACKGROUND: NTDs are considered complex disorders that arise from an interaction
between genetic and environmental factors. NTD family 8776 is a large multigenerational …
between genetic and environmental factors. NTD family 8776 is a large multigenerational …
Clinical geneticists in birth defects surveillance and epidemiology research programs: past, present and future roles
Clinical geneticists have contributed to the creation and operation of birth defects
surveillance systems and epidemiology research programs. Over the years, many continue …
surveillance systems and epidemiology research programs. Over the years, many continue …
High‐density single nucleotide polymorphism screen in a large multiplex neural tube defect family refines linkage to loci at 7p21. 1–pter and 2q33. 1–q35
DS Stamm, E Rampersaud, SH Slifer… - … Research Part A …, 2006 - Wiley Online Library
BACKGROUND: Neural tube defects (NTDs) are considered complex, with both genetic and
environmental factors implicated. To date, no major causative genes have been identified in …
environmental factors implicated. To date, no major causative genes have been identified in …
An increase in spina bifida cases in Tunisia, 2008–2011
K Nasri, MKB Fradj, M Aloui, NB Jemaa… - … -Research and Practice, 2015 - Elsevier
Background The term spina bifida refers to a group of neural tube defects that result in
malformations of the spinal cord and the surrounding vertebrae. Though the etiologies of …
malformations of the spinal cord and the surrounding vertebrae. Though the etiologies of …
Nonneural congenital abnormalities concurring with myelomeningocele: report of 17 cases and review of current theories
N Baradaran, H Ahmadi, F Nejat, M El Khashab… - Pediatric …, 2008 - karger.com
Objective: Meningomyelocele (MMC) is a common central nervous system birth defect.
Various congenital and acquired abnormalities have been reported with MMC, some of …
Various congenital and acquired abnormalities have been reported with MMC, some of …
Neural tube defect family with recessive trait linked to chromosome 9q21. 12-21.31
Y Bayri, B Soylemez, A Seker, S Yuksel… - Child's Nervous …, 2015 - Springer
Purpose Meningomyelocele is one of the most common and socioeconomically,
psychologically, and physically debilitating neurodevelopmental diseases. A few …
psychologically, and physically debilitating neurodevelopmental diseases. A few …
Potential for expanded power in linkage studies using the ALLEGRO and MERLIN software programs
Multipoint linkage analysis in complex diseases requires the use of fast algorithms that can
handle many markers and a large number of moderately sized pedigrees with unknown …
handle many markers and a large number of moderately sized pedigrees with unknown …
神经管缺陷一级预防措施研究与实施现状
宫蕊, 王志萍, 赵仲堂 - Chinese journal of Epidemiology, 2008 - chinaepi.icdc.cn
神经管缺陷一级预防措施研究与实施现状-Current situation on primary prevention measures to
neural tube defects Chinese|English|Set Home|Join the collection Home Online Submission About …
neural tube defects Chinese|English|Set Home|Join the collection Home Online Submission About …