Duplication 16q12. 1–q22. 1 characterized by array CGH in a girl with spina bifida

P Gustavsson, J Schoumans, J Staaf, Å Borg… - European journal of …, 2007 - Elsevier
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 …

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 …

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 …

Clinical geneticists in birth defects surveillance and epidemiology research programs: past, present and future roles

AE Lin, SA Rasmussen, A Scheuerle… - … Research Part A …, 2009 - Wiley Online Library
Clinical geneticists have contributed to the creation and operation of birth defects
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 …

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 …

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 …

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 …

Potential for expanded power in linkage studies using the ALLEGRO and MERLIN software programs

E Rampersaud, WK Scott, ER Hauser… - Journal of medical …, 2005 - jmg.bmj.com
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 …

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
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