L B Holmes
Affiliation: Harvard University
- Teratogen-induced limb defectsLewis B Holmes
Genetics and Teratology Unit, Pediatric Service, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
Am J Med Genet 112:297-303. 2002..The molecular basis for the limb defects produced by the recognized human teratogens remains unknown...
- Newer anticonvulsants: lamotrigine, topiramate and gabapentinLewis B Holmes
Genetics Unit, MassGeneral Hospital for Children, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02114, USA
Birth Defects Res A Clin Mol Teratol 94:599-606. 2012..Larger sample sizes are needed to clarify the questions that have been raised...
- Using ICD-9 codes to establish prevalence of malformations in newborn infantsLewis B Holmes
Active Malformations Surveillance Program, Department of Newborn Medicine, Brigham and Women s Hospital, Boston, Massachusetts, USA
Birth Defects Res A Clin Mol Teratol 94:208-14. 2012..These codes have been used to establish the prevalence of malformations and to assess potential teratogens. We have analyzed the accuracy of codes 740 to 759.9 to identify newborn infants with malformations...
- The teratogenicity of anticonvulsant drugs: a progress reportL B Holmes
Genetics and Teratology Unit, Pediatric Service, Massachusetts General Hospital, Warren 801, 55 Fruit Street, Boston, MA 02114-2696, USA
J Med Genet 39:245-7. 2002
- The correlation of deficits in IQ with midface and digit hypoplasia in children exposed in utero to anticonvulsant drugsLewis B Holmes
Genetics and Teratology Unit, Massachusetts General Hospital, Boston, MA 02115, USA
J Pediatr 146:118-22. 2005..Some children also have cognitive dysfunction. The hypothesis tested is that the anticonvulsant drug-exposed child with midface and digit hypoplasia is more likely to have cognitive dysfunction...
- Increased frequency of isolated cleft palate in infants exposed to lamotrigine during pregnancyL B Holmes
Genetics Unit, MassGeneral Hospital for Children, CPZS 504, 175 Cambridge Street, Boston, MA 02114, USA
Neurology 70:2152-8. 2008..A total of 722 drug-exposed pregnancies are needed to identify a sevenfold increase in the rate of occurrence of a specific abnormality, such as spina bifida, with a frequency of 1 in 1,000...
- Chorionic villus sampling and hemangiomasLewis B Holmes
Genetics Unit, MassGeneral Hospital for Children, Boston, Massachusetts 02114, USA
J Craniofac Surg 20:675-7. 2009..A question to be answered is whether the infantile hemangiomas in children exposed to CVS differ in immunohistologic characteristics from similar hemangiomas in children not exposed to CVS during pregnancy...
- Fetal effects of anticonvulsant polytherapies: different risks from different drug combinationsLewis B Holmes
North American AED Pregnancy Registry, Genetics Unit, MassGeneral Hospital for Children, Boston, MA 02114, USA
Arch Neurol 68:1275-81. 2011..To determine the frequency of malformations among infants born to women who had taken lamotrigine or carbamazepine as part of polytherapy during the first trimester of pregnancy...
- Inclusion and exclusion criteria for malformations in newborn infants exposed to potential teratogensLewis B Holmes
Active Malformations Surveillance Program, Department of Newborn Medicine, Brigham and Women s Hospital, Boston, Massachusetts 02114, USA
Birth Defects Res A Clin Mol Teratol 91:807-12. 2011..The purpose of this study was to develop criteria and definitions for identifying malformations and for identifying the more common and less severe physical features that would be excluded as not being malformations...
- Human teratogens: update 2010Lewis B Holmes
Genetics Unit, Massachusetts General Hospital for Children, and Department of Pediatrics, Harvard Medical School, Boston, MA, USA
Birth Defects Res A Clin Mol Teratol 91:1-7. 2011....
- The teratogenicity of anticonvulsant drugsL B Holmes
Pediatric Service, Massachusetts General Hospital, Boston 02114 2696, USA
N Engl J Med 344:1132-8. 2001..However, whether the abnormalities are caused by the maternal epilepsy itself or by exposure to anticonvulsant drugs is not known...
- Increased rate of major malformations in offspring exposed to valproate during pregnancyD F Wyszynski
Genetics Program, Department of Medicine, Boston University School of Medicine, 715 Albany St, L 320, Boston, MA 02118, USA
Neurology 64:961-5. 2005....
- Adams-Oliver syndrome associated with cardiovascular malformationsA E Lin
Department of Newborn Medicine, Brigham and Women s Hospital, Boston, MA, USA
Clin Dysmorphol 7:235-41. 1998..Cardiology consultation should be offered to most patients with AOS...
- Prenatal diagnosis and molecular cytogenetics in a case of partial trisomy 14 and monosomy 21C Lee
Department of Obstetrics, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA
Am J Med Genet 100:246-50. 2001..More precise definitions of chromosomal breakpoints in such clinical cases should provide more accurate prognosis for individuals with unbalanced karyotypes and assist in the identification of putative developmentally important genes...
- Comparative safety of antiepileptic drugs during pregnancyS Hernandez-Diaz
Department of Epidemiology, Harvard School of Public Health, Boston, MA, USA
Neurology 78:1692-9. 2012..To assess the safety of the newer antiepileptic drugs (AEDs) during pregnancy...
- Anticonvulsant teratogenesis 5: observer bias in a cohort studyElizabeth A Harvey
Genetics and Teratology Unit, Mass General Hospital for Children, Boston, Massachusetts 02114-2696, USA
Birth Defects Res A Clin Mol Teratol 67:452-6. 2003..CONCLUSIONS: The findings suggest the effect of observer bias. In addition, there was evidence of context bias, meaning that a study that focuses on determining the presence of specific features will identify them more often...
- Limb deficiencies in newborn infantsC K McGuirk
Genetics and Teratology Unit, Pediatric Service, Massachusetts General Hospital, Boston, Massachusetts, USA
Pediatrics 108:E64. 2001..The objective of this study was to determine this prevalence rate...
- Effects on toes from prenatal exposure to anticonvulsantsAqiba Bokhari
Genetics and Teratology Unit, Pediatric Service, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
Teratology 66:122-6. 2002..We conclude that the presence of either coned epiphyses or hypoplasia of the phalanges of the toes cannot be considered a distinctive feature of the teratogenicity of the anticonvulsant drugs phenytoin and phenobarbital...
- Effect of prenatal exposure to anticonvulsant drugs on dermal ridge patterns of fingersAqiba Bokhari
Genetics and Teratology Unit, Pediatric Service, Massachusetts General Hospital, Boston, Massachusetts 02114-2606, USA
Teratology 66:19-23. 2002..CONCLUSIONS: Subtle differences in several dermal ridge patterns, not just arch patterns, were present in anticonvulsant-exposed children, primarily in those exposed to polytherapy: phenytoin and phenobarbital...
- Craniofacial skeletal deviations following in utero exposure to the anticonvulsant phenytoin: monotherapy and polytherapyH I Orup
The Department of Growth and Development, Harvard School of Dental Medicine, Boston, MA, USA
Orthod Craniofac Res 6:2-19. 2003..To identify and quantify the craniofacial effects from prenatal exposure to phenytoin monotherapy and polytherapy using cephalometric, hand-wrist, and panoramic radiographs and to determine if such deviations persist with age...
- Cardiovascular malformations: changes in prevalence and birth status, 1972-1990A E Lin
Department of Newborn Medicine, Brigham and Women s Hospital, Boston, Massachusetts, USA
Am J Med Genet 84:102-10. 1999....
- Clonazepam use in pregnancy and the risk of malformationsAngela E Lin
Genetics and Teratology Unit, MassGeneral Hospital for Children, Boston, Massachusetts 02114, USA
Birth Defects Res A Clin Mol Teratol 70:534-6. 2004..However, the current findings about its use in pregnancy are derived from limited studies of small sample size. Because it is commonly prescribed during pregnancy, more information about its safety is needed...
- Infants with Bochdalek diaphragmatic hernia: sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance programBarbara R Pober
Genetics and Teratology, MassGeneral Hospital for Children, Boston, Massachusetts, USA
Am J Med Genet A 138:81-8. 2005..The twin data also raise the possibility that epigenetic abnormalities contribute to the development of CDH...
- Maternally inherited duplication of chromosome 7, dup(7)(p11.2p12), associated with mild cognitive deficit without features of Silver-Russell syndromeNatalia T Leach
Department of Obstetrics and Gynecology, Brigham and Women s Hospital, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, MA 02115, USA
Am J Med Genet A 143:1489-93. 2007..2, showed that it is not duplicated in our patients. Our study helps refine the SRS critical region on 7p and extends our understanding of the clinical manifestations associated with 7p duplications...
- Methodologic issues in epidemiologic studies of congenital microcephalyAlan Leviton
Department of Neurology, Harvard Medical School and Children s Hospital, Neuroepidemiology Unit, Boston, MA 02115 5724, USA
Early Hum Dev 69:91-105. 2002..We pay particular attention to three concerns: Who is a case? How should cases be classified? To whom should cases be compared?..
- Congenital microcephaly: phenotypic features in a consecutive sample of newborn infantsJ E Vargas
Division of Genetics and the Neuroepidemiology Unit, Children's Hospital, Boston, USA
J Pediatr 139:210-4. 2001..CONCLUSIONS: Congenital microcephaly is infrequently accompanied by major malformations and occurs rarely as part of a recognizable syndrome...
- Multiple congenital anomalies associated with in utero exposure of phenytoin: possible hypoxic ischemic mechanism?Helen M Lyon
Children s Hospital, Boston, Massachusetts, USA
Birth Defects Res A Clin Mol Teratol 67:993-6. 2003..The characteristics of the phenotype of the malformed phenytoin-exposed infant can help to clarify the mechanism of the drug's teratogenesis. One postulated mechanism is vascular disruption...
- Valproate teratogenicity and epilepsy syndromeEdward B Bromfield
Department of Neurology, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts, USA
Epilepsia 49:2122-4. 2008..There was a trend toward increased malformation risk with higher VPA doses (p = 0.07). VPA, and not the underlying genetic syndrome, seems to be associated with the elevated risk for malformations in the drug-exposed fetus...
- Bob was rightL B Holmes
Genetics and Teratology Unit, Pediatric Service, Massachusetts General Hospital, Boston 02114 2696, USA
Reprod Toxicol 11:613-6. 1997..Bob has recorded in several publications how he carried out these systematic analyses. This literature will be a very valuable legacy...
- Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndromeS Kantarci
Pediatric Surgical Research Laboratories, MassGeneral Hospital for Children, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA
Am J Med Genet A 140:17-23. 2006..12 that was confirmed by FISH. Given prior reports of CDH in association with cytogenetic abnormalities in this region, we propose that this represents a locus for Fryns syndrome, a Fryns syndrome phenocopy, or CDH...
- The AED (antiepileptic drug) pregnancy registry: a 6-year experienceLewis B Holmes
Genetics and Teratology Unit, Pediatric Service, Massachusetts General Hospital, Boston, USA
Arch Neurol 61:673-8. 2004..CONCLUSIONS: A hospital-based pregnancy registry can establish the fetal risk of major malformations for a commonly used drug. Prenatal exposure to phenobarbital is associated with a significantly increased risk of fetal abnormalities...
- Chorionic villus sampling: a distinctive teratogenic effect on fingers?Caroline M Golden
Genetics and Teratology Unit, MassGeneral Hospital for Children, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02114 2696, USA
Birth Defects Res A Clin Mol Teratol 67:557-62. 2003....
- Pattern of skeletal malformations produced by Dominant hemimelia (Dh)B J Morin
Harvard School of Dental Medicine, Boston, Massachusetts 02115 5898, USA
Teratology 60:348-55. 1999..The interrelationship of the hindlimb malformations and the reduction in the vertebral number suggests a relationship between the development of the axial skeleton and the abnormal limb...
- Autosomal dominant sensorineural hearing loss. Pedigrees, audiologic findings, and temporal bone findings in two kindredsU Khetarpal
Department of Otology and Laryngology, Harvard Medical School, Boston, Mass
Arch Otolaryngol Head Neck Surg 117:1032-42. 1991..The end result is strangulation and degeneration of dendrites followed by retrograde neuronal degeneration in association with varying degrees of atrophic change in the sense organs...
- Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndromeM Bamshad
Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City 84112, USA
Nat Genet 16:311-5. 1997..We suggest that during the evolution of TBX3 and TBX5 from a common ancestral gene, each has acquired specific yet complementary roles in patterning the mammalian upper limb...
- Is antenatal vitamin K prophylaxis needed for pregnant women taking anticonvulsants?Sophie Choulika
Genetics and Teratology Unit, MassGeneral Hospital for Children, Boston, USA
Am J Obstet Gynecol 190:882-3. 2004..No hemorrhagic disease was observed, and the incidence of bleeding tendencies was not higher in infants exposed to these drugs compared with control infants, despite no prenatal vitamin K supplementation in all but 1 epileptic woman...
- Case records of the Massachusetts General Hospital. Case 11-2005. A 32-year-old pregnant woman with an abnormal fetal karyotypeLewis B Holmes
Genetics and Teratology Unit, Mass General Hospital for Children, USA
N Engl J Med 352:1579-87. 2005
- Effects of retinoic acid on Dominant hemimelia expression in miceMary H Owen
Biology Department, Simmons College, Boston, Massachusetts 02115 5898, USA
Birth Defects Res A Clin Mol Teratol 85:36-41. 2009..This study was undertaken to determine whether retinoic acid (RA), which is involved in A-P patterning and coordination of bilaterally synchronized somitogenesis, affects phenotypic expression of the Dh gene...
- Putative new teratogensLewis B Holmes
Genetics and Teratology Unit, Mass General Hospital for Children, Boston, Massachusetts, USA
Teratology 65:204-5. 2002
- Four cases with hypoplastic thumbs and encephalocelesTaosheng Huang
Division of Genetics and Metabolism, Children s Hospital, Boston, Massachusetts, USA
Am J Med Genet 111:178-81. 2002..The literature and database were searched intensively. No similar cases were reported previously, suggesting that the constellations might represent a new genetic syndrome...
- Unilateral transverse arm defect with subterminal digital nubbinsRonny I Drapkin
Department of Pathology, Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA
Pediatr Dev Pathol 6:348-54. 2003..This fetus has the rare phenotype of terminal transverse limb defects with residual nubbins, but differs in that the nubbins are not at the tip of the terminal transverse limb defect...
- Trends in congenital malformations, 1974-1999: effect of prenatal diagnosis and elective terminationAllyson J Peller
Genetics and Teratology Unit, Pediatric Service, Massachusetts General Hospital, Boston, Massachusetts 02114 2696, USA
Obstet Gynecol 104:957-64. 2004..To examine trends in congenital malformations, elective terminations for malformations and correlates for the decision to terminate a pregnancy with a malformation...
- Mutations in SALL4 in malformed father and daughter postulated previously due to reflect mutagenesis by thalidomideJurgen Kohlhase
Institute for Human Genetics and Anthropology, University of Freiburg, Freiburg, Germany
Birth Defects Res A Clin Mol Teratol 70:550-1. 2004
- Ensuring the safe and effective use of medications during pregnancy: planning and prevention through preconception careJanet D Cragan
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, MS E-86, 1600 Clifton Road, N.E, Atlanta, Georgia 30333, USA
Matern Child Health J 10:S129-35. 2006
- North American antiepileptic drug pregnancy registryLewis B Holmes
Epilepsia 45:1465. 2004
- Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutationsJennifer J Johnston
National Institutes of Health, National Human Genome Research Institute, Bethesda, MD 20892 4472, USA
Am J Hum Genet 76:609-22. 2005..These results demonstrate a robust correlation of genotype and phenotype for GLI3 mutations and strongly support the hypothesis that these two allelic disorders have distinct modes of pathogenesis...
- Guidelines for case classification for the National Birth Defects Prevention StudySonja A Rasmussen
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA
Birth Defects Res A Clin Mol Teratol 67:193-201. 2003..Case classification uses knowledge of embryologic and pathogenetic mechanisms to make case groups more homogeneous and is important to the success of birth defects studies...