Genetic studies in neural tube defects

Elizabeth C. Melvin; Timothy M. George; Gordon Worley; Amy Franklin; Joanne Mackey; Kristi Viles; Nishu Shah; Courtney R. Drake; David S. Enterline; David McLone; Jeffrey Nye; W. Jerry Oakes; Colleen McLaughlin; Marion L. Walker; Paula Peterson; Timothy Brei; Connie Buran; Joanna Aben; Bonnie Ohm; Iskandar Bermans; Mazin Qumsiyeh; Jeffrey Vance; Margaret A. Pericak-Vance; Marcy C. Speer

doi:10.1159/000028889

Genetic studies in neural tube defects

Elizabeth C. Melvin, Timothy M. George, Gordon Worley, Amy Franklin, Joanne Mackey, Kristi Viles, Nishu Shah, Courtney R. Drake, David S. Enterline, David McLone, Jeffrey Nye, W. Jerry Oakes, Colleen McLaughlin, Marion L. Walker, Paula Peterson, Timothy Brei, Connie Buran, Joanna Aben, Bonnie Ohm, Iskandar BermansMazin Qumsiyeh, Jeffrey Vance, Margaret A. Pericak-Vance, Marcy C. Speer^*

^*Corresponding author for this work

Neurological Surgery

Research output: Contribution to journal › Article › peer-review

56 Scopus citations

Abstract

Neural tube defects (NTD) are one of the most common birth defects and are caused by both environmental and genetic factors. The approach to identifying the genes predisposing to NTD, through linkage analysis and candidate gene analysis, is reviewed along with characteristics of a large, nationally ascertained cohort of families. Results from specific assessments of p53, PAX3 and MTHFR failed to suggest that these genes play a major role in NTD development in these families. Advances in genetic laboratory and statistical techniques have made this a prime opportunity for investigation into the causes of complex disorders, such as NTD. However, traditional approaches may prove to be challenging due to the difficulty of ascertaining samplable multiplex families. Copyright (C) 2000 S. Karger AG, Basel.

Original language	English (US)
Pages (from-to)	1-9
Number of pages	9
Journal	Pediatric neurosurgery
Volume	32
Issue number	1
DOIs	https://doi.org/10.1159/000028889
State	Published - Jan 2000

Keywords

Genetic studies
Spina bifida

ASJC Scopus subject areas

Clinical Neurology
Pediatrics, Perinatology, and Child Health
Surgery

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10.1159/000028889

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Melvin, E. C., George, T. M., Worley, G., Franklin, A., Mackey, J., Viles, K., Shah, N., Drake, C. R., Enterline, D. S., McLone, D., Nye, J., Oakes, W. J., McLaughlin, C., Walker, M. L., Peterson, P., Brei, T., Buran, C., Aben, J., Ohm, B., ... Speer, M. C. (2000). Genetic studies in neural tube defects. Pediatric neurosurgery, 32(1), 1-9. https://doi.org/10.1159/000028889

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title = "Genetic studies in neural tube defects",

abstract = "Neural tube defects (NTD) are one of the most common birth defects and are caused by both environmental and genetic factors. The approach to identifying the genes predisposing to NTD, through linkage analysis and candidate gene analysis, is reviewed along with characteristics of a large, nationally ascertained cohort of families. Results from specific assessments of p53, PAX3 and MTHFR failed to suggest that these genes play a major role in NTD development in these families. Advances in genetic laboratory and statistical techniques have made this a prime opportunity for investigation into the causes of complex disorders, such as NTD. However, traditional approaches may prove to be challenging due to the difficulty of ascertaining samplable multiplex families. Copyright (C) 2000 S. Karger AG, Basel.",

keywords = "Genetic studies, Spina bifida",

author = "Melvin, {Elizabeth C.} and George, {Timothy M.} and Gordon Worley and Amy Franklin and Joanne Mackey and Kristi Viles and Nishu Shah and Drake, {Courtney R.} and Enterline, {David S.} and David McLone and Jeffrey Nye and Oakes, {W. Jerry} and Colleen McLaughlin and Walker, {Marion L.} and Paula Peterson and Timothy Brei and Connie Buran and Joanna Aben and Bonnie Ohm and Iskandar Bermans and Mazin Qumsiyeh and Jeffrey Vance and Pericak-Vance, {Margaret A.} and Speer, {Marcy C.}",

year = "2000",

month = jan,

doi = "10.1159/000028889",

language = "English (US)",

volume = "32",

pages = "1--9",

journal = "Pediatric neurosurgery",

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Melvin, EC, George, TM, Worley, G, Franklin, A, Mackey, J, Viles, K, Shah, N, Drake, CR, Enterline, DS, McLone, D, Nye, J, Oakes, WJ, McLaughlin, C, Walker, ML, Peterson, P, Brei, T, Buran, C, Aben, J, Ohm, B, Bermans, I, Qumsiyeh, M, Vance, J, Pericak-Vance, MA & Speer, MC 2000, 'Genetic studies in neural tube defects', Pediatric neurosurgery, vol. 32, no. 1, pp. 1-9. https://doi.org/10.1159/000028889

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AU - Melvin, Elizabeth C.

AU - George, Timothy M.

AU - Worley, Gordon

AU - Franklin, Amy

AU - Mackey, Joanne

AU - Viles, Kristi

AU - Shah, Nishu

AU - Drake, Courtney R.

AU - Enterline, David S.

AU - McLone, David

AU - Nye, Jeffrey

AU - Oakes, W. Jerry

AU - McLaughlin, Colleen

AU - Walker, Marion L.

AU - Peterson, Paula

AU - Brei, Timothy

AU - Buran, Connie

AU - Aben, Joanna

AU - Ohm, Bonnie

AU - Bermans, Iskandar

AU - Qumsiyeh, Mazin

AU - Vance, Jeffrey

AU - Pericak-Vance, Margaret A.

AU - Speer, Marcy C.

PY - 2000/1

Y1 - 2000/1

N2 - Neural tube defects (NTD) are one of the most common birth defects and are caused by both environmental and genetic factors. The approach to identifying the genes predisposing to NTD, through linkage analysis and candidate gene analysis, is reviewed along with characteristics of a large, nationally ascertained cohort of families. Results from specific assessments of p53, PAX3 and MTHFR failed to suggest that these genes play a major role in NTD development in these families. Advances in genetic laboratory and statistical techniques have made this a prime opportunity for investigation into the causes of complex disorders, such as NTD. However, traditional approaches may prove to be challenging due to the difficulty of ascertaining samplable multiplex families. Copyright (C) 2000 S. Karger AG, Basel.

AB - Neural tube defects (NTD) are one of the most common birth defects and are caused by both environmental and genetic factors. The approach to identifying the genes predisposing to NTD, through linkage analysis and candidate gene analysis, is reviewed along with characteristics of a large, nationally ascertained cohort of families. Results from specific assessments of p53, PAX3 and MTHFR failed to suggest that these genes play a major role in NTD development in these families. Advances in genetic laboratory and statistical techniques have made this a prime opportunity for investigation into the causes of complex disorders, such as NTD. However, traditional approaches may prove to be challenging due to the difficulty of ascertaining samplable multiplex families. Copyright (C) 2000 S. Karger AG, Basel.

KW - Genetic studies

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Genetic studies in neural tube defects

Abstract

Keywords

ASJC Scopus subject areas

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