Research Topics
Species | JEFFREY MILUNSKYSummaryAffiliation: Boston University Country: USA Publications
Research Grants
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Detail Information
Publications
Genotype-phenotype analysis of the branchio-oculo-facial syndromeJeff M Milunsky
Center for Human Genetics, Boston University School of Medicine, Massachusetts 02118, USA
Am J Med Genet A 155:22-32. 2011..Clinical testing for TFAP2A mutations is now available and will assist geneticists in confirming the typical cases or excluding the diagnosis in atypical cases...- LADD syndrome is caused by FGF10 mutationsJ M Milunsky
Center for Human Genetics, Boston University School of Medicine, Boston, MA, USA
Clin Genet 69:349-54. 2006..We conclude that ALSG and LADD syndrome may represent variable presentations of the same clinical spectrum caused by FGF10 mutations... - Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISHJ M Milunsky
Center for Human Genetics, Boston University School of Medicine, Boston, MA 02118, USA
Clin Genet 64:509-16. 2003..1. As the six patients with KS represent different races, this duplication may represent a common etiologic basis for this disorder... - Cerebro-oculo-facial-lymphatic syndromeJ M Milunsky
Center for Human Genetics, Department of Pediatrics, Boston University School of Medicine, Massachusetts 02118, USA
Clin Genet 63:291-6. 2003..We propose the syndromic appellation of cerebro-oculo-facial-lymphatic syndrome, suggest cardinal diagnostic features, and discuss several possible overlapping syndromic diagnoses... - Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBPJeff M Milunsky
Center for Human Genetics and Department of Pediatrics, Boston University School of Medicine, Boston, Massachusetts 02118, USA
Am J Med Genet A 116:249-54. 2003..The mild maternal phenotype has been described previously. However, this nonmosaic missense mutation has resulted in a severe phenotype in her surviving son... - 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... - Mutation analysis in Rett syndromeJ M Milunsky
Center for Human Genetics and the Department of Pediatrics, Boston University School of Medicine, Boston, MA 02118, USA
Genet Test 5:321-5. 2001..Analysis of common mutations before sequencing the entire gene is anticipated to be the most efficacious strategy to identify Rett syndrome gene mutations... - The value of MLPA in Waardenburg syndromeJ M Milunsky
Center for Human Genetics, Boston University School of Medicine, Boston, Massachusetts 02118 2526, USA
Genet Test 11:179-82. 2007.... - Prenatal diagnosis for Schmid metaphyseal chondrodysplasia in twinsJ Milunsky
Center for Human Genetics and Department of Pediatrics, Boston University School of Medicine, Mass 07118 7394, USA
Fetal Diagn Ther 13:167-8. 1998..This result was confirmed by postnatal DNA analysis. Prenatal diagnosis can be offered to all families with characterized COL10A1 gene mutations... - Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paragangliomaJ M Milunsky
Center for Human Genetics and Department of Pediatrics, Boston University School of Medicine, Boston, Massachusetts 02118, USA
Am J Med Genet 100:311-4. 2001..Molecular analysis is now available and recommended for presymptomatic diagnosis in those at-risk individuals and for confirmatory diagnosis in those having PGL... - Connexin-26 gene analysis in hearing-impaired newbornsJ M Milunsky
Center for Human Genetics, Boston University School of Medicine, MA 02118, USA
Genet Test 4:345-9. 2000..Molecular analysis of hearing-impaired newborns will be important for genetic counseling in these families. Failures with Guthrie cards may make use of other collection methods preferable... - Prenatal diagnosis of spinal muscular atrophy by direct molecular analysis: efficacy and potential pitfallsJ M Milunsky
Center for Human Genetics, Boston University School of Medicine, MA 02118, USA
Genet Test 3:255-8. 1999..However, maternal cell contamination of CVS samples can confound these analyses, and the possibility of contamination must be excluded routinely... - Schizophrenia susceptibility gene locus at Xp22.3J Milunsky
Center for Human Genetics, and Department of Pediatrics, Boston University School of Medicine, MA 02118, USA
Clin Genet 55:455-60. 1999..Hence, the deletion within Xp22.3 almost certainly contains a gene involved in the pathogenesis of paranoid schizophrenia... - Delineation of a supernumerary marker chromosome utilizing a multimodal approach of G-banding, fluorescent in situ hybridization, confirmatory P1 artificial chromosome fluorescent in situ hybridization, and high-resolution comparative genomic hybridizatioH F L Mark
Center for Human Genetics, Boston University School of Medicine, Boston, MA 02118, USA
Clin Genet 68:146-51. 2005..The paternal translocation is noted with prolonged infertility and oligospermia, which again highlights the utility and necessity of chromosome analysis in this setting... - XL PCR for the detection of large trinucleotide expansions in juvenile Huntington's diseaseJ M Milunsky
Center for Human Genetics, Boston University School of Medicine, Boston, MA 02118, USA
Clin Genet 64:70-3. 2003..Without this innovation we would not have been able to demonstrate the large CAG expansion. This assay could become part of a standard protocol for HD testing in molecular diagnostic laboratories... - Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot regionR V Lebo
Center for Human Genetics, Boston University School of Medicine, 715 Albany St, Boston, MA 02118 2526, USA
Clin Genet 59:406-17. 2001..Although prone to disease-causing deletion, this region is unique in humans and highly conserved among mammals for the last 75 000 000 years to maintain the MECP2 gene's critical function... - Highly polymorphic short tandem repeat analyses clarify complex molecular test resultsR V Lebo
Center for Human Genetics, Department of Pediatric, Boston University School of Medicine, MA 02118 2526, USA
Diagn Mol Pathol 10:179-89. 2001.... - An unstable dicentric Robertsonian translocation in a markedly discordant twinR V Lebo
Center for Human Genetics and Department of Pediatrics, Boston University School of Medicine, Boston, MA, USA
Clin Genet 62:383-9. 2002..Selection against unbalanced mitotic products of the unstable, functionally dicentric chromosome in early fetal development is proposed to result in Twin B's highly discordant small birth size... - A new transthyretin variant from a patient with familial amyloidotic polyneuropathy has asparagine substituted for histidine at position 90J C Skare
Center for Human Genetics, Department of Pediatrics, Boston University School of Medicine, MA
Clin Genet 39:6-12. 1991..The discovery of this mutation suggests that intermolecular binding between hydrophobic polypeptide loops on the surface of transthyretin can lead to familial amyloidotic polyneuropathy...
Research Grants
- Identify Waardenburg syndrome type 2 loci in manJEFFREY MILUNSKY; Fiscal Year: 2005..We will perform a high-density genome scan coupled with linkage disequilibrium analyses on 3 large multigenerational families and multiple smaller families with WS2 to identify candidate gene(s) with mutations causing WS2. ..
- Identify genes causing Kabuki SyndromeJEFFREY MILUNSKY; Fiscal Year: 2006..Further investigation into the etiology of KS and related phenotypes with identification of specific responsible genes will increase our understanding of human growth, mental development, and hearing loss. ..