Birth Defects Research Part A: Clinical and Molecular Teratology

Cover image for Vol. 100 Issue 10

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

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  • Limb-body wall defect: Experience of a reference service of fetal medicine from Southern Brazil

    Limb‐body wall defect: Experience of a reference service of fetal medicine from Southern Brazil

    (A–D) MRI of patient 6 showing anterior encephalocele (A,C,D) and amniotic band (A,B).

  • Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families

    Heterozygous DLX5 nonsense mutation associated with isolated split‐hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families

    A: Family tree of case 1. B: Pedigree of family 2. Patients affected by SHFM are represented by black symbols. Grey color highlights the patients referred to the genetic clinic due to psychomotor retardation. Horizontal bars above the symbols represent the availability for genetic testing. Electropherograms of the DLX5 nonsense mutation detected in both index cases have been shown next to the pedigree of the corresponding family (black arrows indicate the position of DLX5 mutation). [Color figure can be viewed in the online issue, which is available at wileyonlinelibrary.com.]

  • Epigenetic mechanism causes Wnt9b deficiency and nonsyndromic cleft lip and palate in the A/WySn mouse strain

    Epigenetic mechanism causes Wnt9b deficiency and nonsyndromic cleft lip and palate in the A/WySn mouse strain

    A diagram of the genomic region containing Wnt9b and C130046K22Rik in the normal C57BL/6J strain, the location of the IAP in the A/WySn strain and the locations of primers used to investigate an antisense cDNA originating in the 5′ LTR of the IAP. The locations of the 112 bp “IAP-antisense” product used to assay IAP transcription and of the 459 antisense product originating in the 5′ LTR are shown. Chevrons indicate the direction of transcription for each entity. The information is based on the December 2011 mouse assembly in the UCSC Genome Browser (UCSC Genome Browser, ). Tall vertical bars represent protein-coding exons; shorter bars represent untranslated UTRs; vertically shortest bars represent mRNA-coding exons that are not translated. Red arrowheads represent the LTRs of the IAP and direction of its sense transcription; the finer red arrow represents the initiation of an antisense transcript in the 5′ LTR. Labeled short blunt arrows around the cDNA represent the locations of primers. [Color figure can be viewed in the online issue, which is available at wileyonlinelibrary.com.]

  • Bladder exstrophy–epispadias complex and triple-X syndrome: Incidental finding or causality?

    Bladder exstrophy–epispadias complex and triple‐X syndrome: Incidental finding or causality?

    Transverse view of the fetal pelvis with paravesical course of the umbilical arteries and absent bladder. [Color figure can be viewed in the online issue, which is available at wileyonlinelibrary.com.]

  • Limb‐body wall defect: Experience of a reference service of fetal medicine from Southern Brazil
  • Heterozygous DLX5 nonsense mutation associated with isolated split‐hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families
  • Epigenetic mechanism causes Wnt9b deficiency and nonsyndromic cleft lip and palate in the A/WySn mouse strain
  • Bladder exstrophy–epispadias complex and triple‐X syndrome: Incidental finding or causality?

Recently Published Issues

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Special Issue: Abstracts from the 2nd International Joined OTIS - ENTIS Conference

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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

Announcements

5 Year Impact Factor announced: 2.666!

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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