Birth Defects Research Part A: Clinical and Molecular Teratology

Cover image for Vol. 100 Issue 8

Edited By: Michel Vekemans

Impact Factor: 2.211

ISI Journal Citation Reports © Ranking: 2013: 27/41 (Developmental Biology); 48/87 (Toxicology)

Online ISSN: 1542-0760

Associated Title(s): Birth Defects Research Part B: Developmental and Reproductive Toxicology, Birth Defects Research Part C: Embryo Today: Reviews

Featured

  • Micro-computed tomography assessment of vertebral column defects in retinoic acid-Induced rat model of myelomeningocele

    Micro‐computed tomography assessment of vertebral column defects in retinoic acid‐Induced rat model of myelomeningocele

    Histological stained sections from MMC and normal control rats. A,B: Hematoxylin and eosin stained sagittal sections through the lumbosacral region of normal control and MMC rats. The sagittal view of hematoxylin and eosin stained sections shows complete vertebral column in a normal control animal (A). In contrast, the vertebral column in a MMC rat (B) demonstrates deformations, fusion and/or reduction of the vertebral arch elements in the low lumbar/sacral region. C,D: Alizarin red stained sagittal sections of normal control and MMC rats showing lumbosacral defect in the MMC rats, but not in the normal control rats. Compared with a normal control rat (C), Alizarin red stained sagittal section shows incomplete ossification in the bony elements at the MMC defect (D). E,F: Alcian blue stained sagittal sections of normal control and MMC rats showing cartilage staining differences in the MMC rats, compared with normal control rats. Compared with a normal control rat (E), Alcian blue stained sagittal section shows fusion of nonossified portions of the vertebral elements at the MMC defect (F). The arrows mark the cranial and caudal ends of MMC defect. VC, vertebral column; SC, spinal cord.

  • De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate

    De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate

    Array-CGH analysis of the patient. A: Partial Array-CGH profile of chromosome 2 q showing a 5.6 Mb deletion extending from 2q36.1 (position 221,835,372) to 2q36.3 (position 227,501,896). B: Gene content of the 2q36.1q36.3 deleted region based on UCSC Genome Browser, GRCh/h19 (http://genome.ucsc.edu). In red are reported the DECIPHER patients carrying a deletion, in green are reported the cases from Doco-Fenzy et al., 2008 and Freitas et al., 2012.

  • Preconceptional folic acid-containing supplement use in the national birth defects prevention study

    Preconceptional folic acid‐containing supplement use in the national birth defects prevention study

    Classification tree comparing women of reproductive age with compliant and non-compliant folic acid supplement intake, NBDPS controls (1997–2005). aEach node contains the percentage of women of reproductive age who were compliant folic acid user for that specific subset group along with the size of the subset in the overall sample

  • Corticosteroid use and risk of orofacial clefts

    Corticosteroid use and risk of orofacial clefts

    Association of risk of cleft lip and palate (CLP) among offspring born to women who used maternal corticosteroid medications from 4 weeks before through 12 weeks after conception, comparing NBDPS deliveries 1997 to 2002 versus 2003 to 2009. Results are presented in a logarithmic scale.

  • Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region

    Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region

    Results of molecular karyotyping. (Top) Chromosome 22q11.21 duplications observed in the present study (Patients 3–6) and those described in two earlier reports (Patient S1 and Patient S2 [Lundin et al., ], Patient 1 and Patient 2 [Draaken et al., ]); the figure is compiled from data derived from the results of microarray analysis and next generation sequencing. The maximum region of overlap (chromosome 22:21,050,613-21,464,371; hg19) is indicated in green. (Middle) Low-copy repeats A–D are represented by black rectangles (Edelmann et al., ; Shaikh et al., ). (Bottom) RefSeq genes (according to hg19) located in the duplicated region.

  • Micro‐computed tomography assessment of vertebral column defects in retinoic acid‐Induced rat model of myelomeningocele
  • De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate
  • Preconceptional folic acid‐containing supplement use in the national birth defects prevention study
  • Corticosteroid use and risk of orofacial clefts
  • Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region

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Open Access Articles in BDRA: Clinical and Molecular Teratology

Click below to read this OnlineOpen content in BDRA: Clinical and Molecular Teratology for FREE:

Corticosteroid use and risk of orofacial clefts
Hildur Skuladottir, Allen J. Wilcox, Chen Ma, Edward J. Lammer, Sonja A. Rasmussen, Martha M. Werler, Gary M. Shaw, Suzan L. Carmichael
Volume 100, Issue 6, June 2014

Nuclear factor-kappa-B signaling in lung development and disease: One pathway, numerous functions
Cristina M. Alvira
Volume 100, Issue 3, March 2014

Sex prevalence of major congentical anomalies in the United Kingdom: A national population-based study and international comparison meta-analysis
Rachel Sokal, Laila J. Tata, Kate M. Fleming
Volume 100, Issue 2, February 2014

Knowledge and periconceptual use of folic acid for the prevention of neural tube defects in ethnic communities in the United Kingdom: Systematic review and meta-analysis
Jordana N. Peake, Andrew J. Copp, Jill Shawe
Volume 97, Issue 7, July 2013

Birth Defects Research Distinguished Scholar Awards

Birth Defects Research Distinguished Scholar AwardsCongratulations to Dr. Bengt Källen, the winner of the Birth Defects Research Distinguished Scholar Award for his paper in Birth Defects Research: Part A: In vitro fertilization (IVF) in Sweden: Risk for congenital malformations after different IVF methods. Details of the Award can be read here.

Now in EarlyView

Now Available Online:

Prevention of orofacial clefts caused by smoking: Implications of the Surgeon General's report
Margaret A. Honein, Owen Devine, Scott D. Grosse and Jennita Reefhuis

Immortal time bias in observational studies of drug effects in pregnancy
Ilan Matok, Laurent Azoulay, Hui Yin and Samy Suissa

Mitochondrial one-carbon metabolism and neural tube defects
Jessica Momb and Dean R. Appling

Limb-body wall defect: Experience of a reference service of fetal medicine from Southern Brazil
Sibele Nascimento de Aquino, Ryuichi Hoshi, Elizabete Bagordakis, Maria Giulia Rezende Pucciarelli, Ana Camila Messetti, Helenara Moreira, Andreia Bufalino, Andréa Borges, Ana Lucia Rangel, Luciano Abreu Brito, Mario Sergio Oliveira Swerts, Hercilio Martelli-Junior, Sergio R. Line, Edgard Graner, Sílvia R.A. Reis, Maria Rita Passos-Bueno and Ricardo D. Coletta

Population-based study to determine mortality in spina bifida: New York State congenital malformations registry, 1983 to 2006
Vijaya Kancherla, Charlotte M. Druschel and Godfrey P. Oakley Jr.


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