Research Topics
| Angela LinSummaryAffiliation: Harvard University Country: USA Publications
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Detail Information
Publications
Further delineation of Kabuki syndrome in 48 well-defined new individualsLinlea Armstrong
Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
Am J Med Genet A 132:265-72. 2005..Very recently, a microduplication of 8p has been described in multiple affected individuals, the proportion of individuals with the duplication is yet to be determined...
Adults with genetic syndromes and cardiovascular abnormalities: clinical history and managementAngela E Lin
Genetics Unit, Department of Pediatrics, MassGeneral Hospital for Children, Boston, Massachusetts 02114, USA
Genet Med 10:469-94. 2008..New data are also provided about the cardiac status of adults with a 22q11.2 deletion and with Down syndrome...
Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndromeAngela E Lin
Genetics Unit, MassGeneral Hospital for Children, Boston, Massachusetts, USA
Am J Med Genet A 155:486-507. 2011..Physicians should be aware of the potential for rapid development of severe HCM in infants with Costello syndrome, and the need for cardiovascular surveillance into adulthood as the natural history continues to be delineated...- 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... - Total is more than the sum of the parts: phenotyping the heart in cardiovascular genetics clinicsAngela E Lin
Genetics and Teratology Unit, MassGeneral Hospital for Children, Boston, Massachusetts 02114, USA
Am J Med Genet A 131:111-4. 2004 - Clinician reviewers in birth defects surveillance programs: survey of the National Birth Defects Prevention NetworkAngela E Lin
Genetics and Teratology Unit, MassGeneral Hospital for Children, Boston, Massachusetts, USA
Birth Defects Res A Clin Mol Teratol 76:781-6. 2006..The untested assumption is that expertise in the evaluation of individuals with birth defects and genetic syndromes in clinical practice, usually clinical genetics, is useful in reviewing medical records... - Cardiovascular malformations in Fryns syndrome: is there a pathogenic role for neural crest cells?Angela E Lin
Teratology Unit, Pediatric Service, MassGeneral Hospital for Children, Boston, Massachusetts 02115, USA
Am J Med Genet A 139:186-93. 2005.... - Congenital diaphragmatic hernia and associated cardiovascular malformations: type, frequency, and impact on managementAngela E Lin
Genetics Unit, MassGeneral Hospital for Children, Boston, MA 02114, USA
Am J Med Genet C Semin Med Genet 145:201-16. 2007..Irrespective of the type of severity of CVMs in patients with CDH, the degree of pulmonary hypoplasia and pulmonary vascular disease predicts outcome... - An additional patient with mycophenolate mofetil embryopathy: cardiac and facial analysesAngela E Lin
Genetics Unit, MassGeneral Hospital for Children, Boston, Massachusetts, USA
Am J Med Genet A 155:748-56. 2011..This awareness may influence clinical management of apparently normal MMF-exposed individuals... - Clinical geneticists in birth defects surveillance and epidemiology research programs: past, present and future rolesAngela E Lin
Genetics Unit, MassGeneral Hospital for Children, Boston, Massachusetts, USA
Birth Defects Res A Clin Mol Teratol 85:69-75. 2009..Looking to the future, we discuss the education of other clinical geneticists, the need to evaluate performance, and the geneticist's participation with other public health colleagues in the shared goal of birth defects prevention... - Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardiaAngela E Lin
Genetics Unit, Department of Pediatrics, MassGeneral Hospital for Children, 185 Cambridge Street, Simches 2222, Boston, MA, USA
Prenat Diagn 29:682-90. 2009..Delineate prenatal features of Costello syndrome (caused by HRAS mutations), which consists of mental retardation, facial, cardiovascular, skin, and musculoskeletal anomalies, and tumor predisposition... - Lesser forms of cleft lip associated with the branchio-oculo-facial syndromeAngela E Lin
Genetics Unit, MassGeneral Hospital for Children, USA
J Craniofac Surg 20:608-11. 2009..Another possible pathogenic explanation is that failure of labial closure occurs earlier than in a major cleft when the primitive cells of ectoderm and mesoderm retain the capacity to "heal" the defect... - Hand it to the skin in Costello syndromeAngela Lin
Genetics and Teratology Unit, Pediatric Service, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
J Pediatr 144:135. 2004 - Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1A E Lin
Genetics and Teratology Unit, Pediatric Service, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
Am J Med Genet 95:108-17. 2000..There were 16 patients who had a peripheral vascular abnormality without an intracardiac CVM, plus an additional 4 patients among those with a CVM who also had a peripheral vascular abnormality... - 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... - Exclusion of growth factor gene mutations as a common cause of Sotos syndromeA E Lin
Genetics and Teratology Unit, Massachusetts General Hospital, Boston 02114, USA
Am J Med Genet 98:101-2. 2001..It is possible that these three genes are not involved in the cause of Sotos syndrome, or alternatively, mutations could not be identified in the small number of patients studied... - Cardiac anomalies in the Simpson-Golabi-Behmel syndromeA E Lin
Genetics and Teratology Unit, Massachusetts General Hospital, Boston 02114, USA
Am J Med Genet 83:378-81. 1999..There are sufficient data to recommend a baseline echocardiogram and ECG in SGBS patients. Data are insufficient to define a cardiac phenotype/molecular correlation... - Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndromeA E Lin
Genetics and Teratology Unit, Pediatric Service, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
Am J Med Genet 91:387-90. 2000..In light of these issues, we selected the BOR locus (EYA1) as a possible gene mutation for the BOF syndrome. In five BOF patients, there were no mutations detected in the EYA1 gene, suggesting that it is not allelic to the BOR syndrome... - Circumferential abdominal skin defect possibly due to umbilical cord encirclementA E Lin
Department of Newborn Medicine, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
Teratology 60:258-9. 1999..There were no other malformations, and amniotic disruption was not present. Although it cannot be proven, we believe that this skin defect may have been caused by in utero encirclement of the abdomen by an umbilical cord... - 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.... - 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... - Population-based analysis of left- and right-sided diaphragmatic hernias demonstrates different frequencies of selected additional anomaliesAnne M Slavotinek
Department of Pediatrics, Division of Genetics, University of California, San Francisco, California, USA
Am J Med Genet A 143:3127-36. 2007..Birth defects monitoring programs can provide the interface for epidemiology and clinical genetics, which in this case, may generate hypotheses to establish the pathogenesis of CDH laterality. (c) 2007 Wiley-Liss, Inc... - Fryns syndrome with Hirschsprung disease: support for possible neural crest involvementFowzan S Alkuraya
Division of Genetics and Metabolism, Children s Hospital, Harvard Medical School, Boston, MA 02130, USA
Am J Med Genet A 132:226-30. 2005..We suspect that the clinical observation about Hirschsprung disease and Fryns syndrome may provide insight into its molecular mechanisms and candidate genes... - Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007Katherine A Rauen
Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, California, USA
Am J Med Genet A 146:1205-17. 2008 - Further delineation of cardiac abnormalities in Costello syndromeAngela E Lin
Teratology Unit, Pediatric Service, Massachusetts General Hospital, Boston, Massachusetts, USA
Am J Med Genet 111:115-29. 2002..Additional prospective evaluations, even in patients without apparent cardiac abnormalities, would be prudent, although data are insufficient to propose a specific schedule... - First-trimester use of selective serotonin-reuptake inhibitors and the risk of birth defectsCarol Louik
Slone Epidemiology Center at Boston University, Boston, MA 02215, USA
N Engl J Med 356:2675-83. 2007..The risk of birth defects after antenatal exposure to selective serotonin-reuptake inhibitors (SSRIs) remains controversial... - TFAP2A mutations result in branchio-oculo-facial syndromeJeff M Milunsky
Center for Human Genetics, Boston University School of Medicine, Boston, MA 02118 2526, USA
Am J Hum Genet 82:1171-7. 2008..We conclude BOFS is caused by mutations involving TFAP2A. More patients need to be studied to determine possible genetic heterogeneity and to establish whether there are genotype-phenotype correlations... - Reviewing the evidence for mycophenolate mofetil as a new teratogen: case report and review of the literatureMarlene T Anderka
Massachusetts Department of Public Health, Massachusetts Center for Birth Defects Research and Prevention, Boston, MA 02108, USA
Am J Med Genet A 149:1241-8. 2009..While case reports have limited value in identifying human teratogens, the unusual distribution of malformations among the 14 reported exposed offspring identifies a phenotype suggesting that MMF is likely a human teratogen... - Cardiac phenotypes in chromosome 4q- syndrome with and without a deletion of the dHAND geneTaosheng Huang
Division of Genetics, Department of Pediatrics, University California, Irvine, California 92697, USA
Genet Med 4:464-7. 2002..The correct cytogenetic interpretation of terminal chromosome deletions might be augmented by FISH... - Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndromeKaren W Gripp
Division of Medical Genetics, A I duPont Hospital for Children Nemours Childrens Clinic, Wilmington, DE 19899, USA
Am J Med Genet A 143:1472-80. 2007..Based on these clinical differences we suggest that patients with BRAF and MEK mutations should be diagnosed with CFC syndrome, and the diagnosis of Costello syndrome be reserved for patients with HRAS mutations... - The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disordersBronwyn Kerr
Regional Genetic Service and Medical Genetics Research Group, Central Manchester and Manchester Children's Hospitals University NHS Trust, Manchester, UK
Am J Med Genet A 146:1218-20. 2008 - 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... - 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... - Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlationSeema R Lalani
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Am J Hum Genet 78:303-14. 2006..We conclude that cardiovascular malformations, coloboma, and facial asymmetry are common findings in CHARGE syndrome caused by CHD7 mutation... - HRAS mutation analysis in Costello syndrome: genotype and phenotype correlationKaren W Gripp
Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, DE 19899, USA
Am J Med Genet A 140:1-7. 2006..Five different HRAS mutations have now been reported in Costello syndrome, however genotype-phenotype correlation remains incomplete... - Myocardial storage of chondroitin sulfate-containing moieties in Costello syndrome patients with severe hypertrophic cardiomyopathyAleksander Hinek
Division of Cardiovascular Research, The Hospital for Sick Children, Toronto, Canada
Am J Med Genet A 133:1-12. 2005..We propose that an imbalance in sulfation of chondroitin sulfate molecules and subsequent accumulation of chondroitin-6-sulfate in cardiomyocytes contribute to the development of the hypertrophic cardiomyopathy of Costello syndrome... - Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletionsSeema R Lalani
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Am J Med Genet A 118:260-6. 2003..This screen sets upper limits on the length of a CHARGE-related microdeletion, should that be the genetic mechanism underlying the phenotype... - Seeking causes: Classifying and evaluating congenital heart defects in etiologic studiesLorenzo D Botto
Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84132, USA
Birth Defects Res A Clin Mol Teratol 79:714-27. 2007..We describe an approach to classification for risk assessment of CHD based on developmental and epidemiologic considerations, and apply it to data from the National Birth Defect Prevention Study (NBDPS)... - Participation by clinical geneticists in genetic advocacy groupsAngela E Lin
Am J Med Genet A 119:89-92. 2003 - A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13John M Graham
Medical Genetics Birth Defects Center, Ahmanson Department of Pediatrics, Cedars Sinai Medical Center, UCLA School of Medicine, Los Angeles, California 90048, USA
Am J Med Genet A 123:37-44. 2003..Altered expression of Alpha 4, through either a change in translational efficiency, mRNA stability or splicing, could explain the clinical phenotype in these boys and the phenotypic overlap with Opitz GBBB syndrome... - 47,XXX associated with malformationsCarrie E Haverty
Am J Med Genet A 125:108-11; author reply 112. 2004 - The heart of Turner syndrome: small mattersAngela E Lin
Teratology 66:63-4. 2002 - Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task ForceJ M Friedman
Department of Medical Genetics, University of British Columbia, 6174 University Boulevard, Vancouver, BC V6T 1Z3, Canada
Genet Med 4:105-11. 2002..CONCLUSION: Our understanding of the natural history and pathogenesis of cardiovascular disease in NF1 has improved substantially in the past few years, but many clinically important questions remain unanswered... - Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocolKaren W Gripp
Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware 19899, USA
Am J Med Genet 108:80-7. 2002..The diagnosis of Costello syndrome should also be considered in individuals with RMS and physical findings suggestive of Costello syndrome... - Maternal caffeine consumption and risk of cardiovascular malformationsMarilyn L Browne
Bureau of Environmental and Occupational Epidemiology, New York State Department of Health, Troy, New York, USA
Birth Defects Res A Clin Mol Teratol 79:533-43. 2007..Epidemiologic studies have yielded mixed results, but such studies have grouped etiologically different defects and have not evaluated effect modification... - Focus on the heart and aorta in Turner syndromeAngela E Lin
J Pediatr 150:572-4. 2007 - Clarification of previously reported Costello syndrome patientsAngela E Lin
Am J Med Genet A 146:940-3. 2008