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Genomes and Genes | A M SlavotinekSummaryAffiliation: University of California Country: USA Publications
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A female infant with duplication of chromosome 2q33 to 2q37.3Anne M Slavotinek
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
Clin Dysmorphol 12:251-6. 2003..3. Other clinical features found with duplication for chromosome 2q3 have been variable and we provide a summary of the findings in previously reported cases...
Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypesRavinesh A Kumar
Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, 950 West 28th Ave, Vancouver, V5Z 4H4, Canada
BMC Med Genet 8:48. 2007..In this work, SNX3 was sequenced in three patients not previously studied for this gene. In addition, we test the hypothesis that mutations in the neighbouring gene NR2E1 may underlie MMEP and related phenotypes...- Fryns syndrome: a review of the phenotype and diagnostic guidelinesAnne M Slavotinek
Division of Genetics, Department of Pediatrics, University of California San Francisco, 533 Parnassus Street, San Francisco, CA 94143 0748, USA
Am J Med Genet A 124:427-33. 2004.... - Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63Anne M Slavotinek
Department of Pediatrics, University of California, San Francisco 94143 0748, USA
Am J Med Genet A 138:146-9. 2005..Mutation analysis of TP63 showed a single nucleotide substitution, c.G518A, predicting a novel missense mutation, p.V114M in exon 4. This is the third mutation to be reported in TP63 in ADULT syndrome... - A family with X-linked anophthalmia: exclusion of SOX3 as a candidate geneAnne Slavotinek
Department of Pediatrics, Division of Clinical Genetics, University of California, San Francisco, California 94143 0748, USA
Am J Med Genet A 138:89-94. 2005..We have improved the definition of the phenotype in males with anophthalmia linked to the ANOP1 locus, as microcephaly, ocular colobomas, and severe renal malformations have not been described in families linked to ANOP1... - The genetics of congenital diaphragmatic herniaAnne M Slavotinek
Department of Pediatrics, University of California, San Francisco, CA 94143 0748, USA
Semin Perinatol 29:77-85. 2005.... - Craniofacial defects of blastogenesis: duplication of pituitary with cleft palate and orophgaryngeal tumorsAnne Slavotinek
Department of Pediatrics, Division of Genetics, University of California San Francisco, 553 Parnassus Street, Rm U 585P, San Francisco, CA 94143, USA
Am J Med Genet A 135:13-20. 2005..However, the precise inductive mechanism resulting in DPG remains unknown... - Single gene disorders associated with congenital diaphragmatic herniaAnne M Slavotinek
Department of Pediatrics, University of California, San Francisco, CA 94143 0748, USA
Am J Med Genet C Semin Med Genet 145:172-83. 2007.... - Marinesco-Sjögren syndrome in a male with mild dysmorphismAnne Slavotinek
Department of Pediatrics, Division of Medical Genetics, University of California San Francisco, 533 Parnassus Street, San Francisco, CA 94143 0748, USA
Am J Med Genet A 133:197-201. 2005.... - 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... 
Novel microdeletion syndromes detected by chromosome microarraysAnne M Slavotinek
Department of Pediatrics, Division of Genetics, University of California, San Francisco, Box 0748, 533 Parnassus St, Room U585P, San Francisco, CA, 94143 0748, USA
Hum Genet 124:1-17. 2008..Although the full extent of the phenotypes is still evolving for many of these novel microdeletions, it is clear that array CGH has heralded an unparalleled era of discovery for clinical cytogenetics...
VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humansAnne M Slavotinek
Department of Pediatrics, Division of Genetics, University of California, San Francisco, California 94143 0748, USA
Hum Mutat 33:364-8. 2012..We did not identify any mutations in VAX2. This is the first description of a phenotype associated with a VAX1 mutation in humans and establishes VAX1 as a new causative gene for A/M...- Eye development genes and known syndromesAnne M Slavotinek
Department of Pediatrics, Division of Genetics, University of California, San Francisco, San Francisco, CA 94143 0748, USA
Mol Genet Metab 104:448-56. 2011..In addition, we briefly discuss the ocular and extraocular phenotypes associated with several other important eye developmental genes, including GDF6, VSX2, RAX, SHH, SIX6 and PAX6... - Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1Anne M Slavotinek
Department of Pediatrics, Division of Genetics, University of California, 533 Parnassus Street, Room U585P, San Francisco, CA 94143 0748, USA
J Med Genet 48:375-82. 2011..Autosomal recessive inheritance had been assumed because of consanguinity in the Oji-Cre population of Manitoba and reports of affected siblings, but no locus or cytogenetic aberration had previously been described... - Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutationsNelson Lopez Jimenez
Department of Pediatrics, Division of Genetics, University of California, San Francisco, 533 Parnassus St, Room U585P, San Francisco, CA 94143 0748 USA
BMC Med Genet 12:172. 2011..We used next-generation sequencing to screen 15 A/M patients for mutations in 9 pathogenic genes to evaluate this technology for screening in A/M... - Genetic modifiers in human development and malformation syndromes, including chaperone proteinsAnne Slavotinek
Department of Pediatrics, Division of Genetics, Room U585P, UCSF, 533 Parnassus St, San Francisco, CA, USA
Hum Mol Genet 12:R45-50. 2003.... - Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic herniaA M Slavotinek
Department of Pediatrics, Division of Genetics, University of California, San Francisco, 533 Parnassus Street, Room U585P, San Francisco, CA 94143 0748, USA
Clin Genet 75:429-39. 2009.... - Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRalpha reveals rare variants in diaphragmatic hernia patientsS B Bleyl
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA
Eur J Hum Genet 15:950-8. 2007..Although our study identified sequence variants in FOG2 and PDGFRalpha, we have not definitively established the variants as mutations and we found no evidence that CDH commonly results from mutations in these genes... - Phenotypic overlap of McKusick-Kaufman syndrome with bardet-biedl syndrome: a literature reviewA M Slavotinek
National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland 20892, USA
Am J Med Genet 95:208-15. 2000..We conclude that sporadic female infants with HMC and PAP cannot be diagnosed with MKS until at least age 5 years and that monitoring for the complications of BBS should be performed in these patients... - Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomaliesE H Sherr
Department of Neurology, University of California, San Francisco, CA 94143 0748, USA
Neurology 65:1496-8. 2005..Chromosomal deletions and duplications may be a relatively common cause of cerebral malformations... - Mutations in MKKS cause Bardet-Biedl syndromeA M Slavotinek
Genetic Diseases Research Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA
Nat Genet 26:15-6. 2000..Both parents and the maternal grandfather were heterozygous for the deletions. Genotyping with markers from the MKKS region confirmed homozygosity at 20p12 in both affected individuals... - Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patientsA M Slavotinek
National Human Genome Research Institute, National Institutes of Health, Bldg 49 Room 4B75, 49 Convent Drive, Bethesda, MD 20895, USA
Hum Genet 110:561-7. 2002..The frequency of detected mutations in MKKS in Group II patients was 24%, i.e., six times higher than the published rate for unselected BBS patients, suggesting that small-scale linkage analyses may be useful in suitable families... - Subtypes of frontonasal dysplasia are useful in determining clinical prognosisE Wu
Department of Pediatrics, Division of Genetics, University of California, San Francisco, California, USA
Am J Med Genet A 143:3069-78. 2007..The results suggest that cases with FND should be evaluated for additional anomalies, as these may help to determine prognosis... - Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromesA M Slavotinek
National Human Genome Research Institute, National Institutes of Health, Bldg 49, Room 4B75, 49 Convent Drive, Bethesda, MD 20892 4472, USA
J Med Genet 39:623-33. 2002.... - A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome?Anne M Slavotinek
Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Am J Med Genet A 129:69-72. 2004..The dual midline fusion defects of tetralogy of Fallot and MA suggests that either this patient has a unique syndrome with a distinct genetic etiology or that she has a genetically heterogeneous or variant form of MKS... - Case reports of oculofaciocardiodental syndrome with unusual dental findingsSnehlata Oberoi
University of California, San Francisco, Center for Craniofacial Anomalies, San Francisco, California 94122, USA
Am J Med Genet A 136:275-7. 2005..4. Mutational analysis in one of our patients showed a deletion of a single nucleotide, c.2613delC, predicting a novel frameshift mutation with a premature stop codon, p.F871Lfs8X... - A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia-evaluation of DSEL as a candidate gene for the diaphragmatic defectHatem Zayed
Department of Pediatrics, Division of Genetics, University of California, San Francisco, California 94143 0748, USA
Am J Med Genet A 152:916-23. 2010.... - Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutationElena W Y Hsieh
Department of Pediatrics, Division of Genetics, UCSF School of Medicine, San Francisco, California 94143 0748, USA
Am J Med Genet A 146:2337-45. 2008..This mutation affects the PRY domain of the C-terminus of the MID1 protein... - Segregation of a t(1;3) translocation in multiple affected family members with both types of adjacent-1 segregantsChahira Kozma
Department of Pediatrics, Georgetown University Medical Center, Washington, DC, USA
Am J Med Genet A 124:118-28. 2004..In this kindred, the ratio of normal to abnormal individuals born to balanced carriers is believed to be about 1:1.5. This suggests that the recurrence risk for carriers is 50%... - Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2Anne M Slavotinek
Department of Pediatrics, Division of Genetics, University of California, San Francisco, Room U585P, 533 Parnassus St, San Francisco, CA 94143 0748, USA
Eur J Hum Genet 14:999-1008. 2006..In addition, there is evidence for substantial genetic heterogeneity in CDH and diaphragmatic hernias can be non-penetrant in patients who have deletions involving CDH-critical regions... - Unfolding the role of chaperones and chaperonins in human diseaseA M Slavotinek
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 4472, USA
Trends Genet 17:528-35. 2001.... - KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteriaK L Skjei
Department of Pediatrics, Division of Genetics, University of California, San Francisco, California 94143 0748, USA
Am J Med Genet A 143:292-300. 2007..These diagnostic criteria were obtained from 50 publications and appeared to support the diagnosis in 43 cases. They will be helpful to pediatricians, geneticists, and neurologists in evaluating patients for this condition... - Hypodontia in Beare-Stevenson syndrome: an example of dental anomalies in FGFR-related craniosynostosis syndromesYou Chen Tao
UCSF School of Dentistry, San Francisco, California, USA
Cleft Palate Craniofac J 47:253-8. 2010..The authors review the current literature to investigate the relationship between dental anomalies and fibroblast growth factor receptor-related mutations in BSS and other craniosynostosis syndromes such as Apert, Crouzon, and Pfeiffer... - Congenital diaphragmatic hernia and microtia in a newborn with mycophenolate mofetil (MMF) exposure: phenocopy for Fryns syndrome or broad spectrum of teratogenic effects?Melissa A Parisi
Department of Pediatrics, Seattle Children s Hospital, University of Washington, Seattle, Washington 98105, USA
Am J Med Genet A 149:1237-40. 2009..Thus, a teratogenic exposure can mimic a known Mendelian genetic syndrome, and caution is urged in presuming a genetic etiology for infants with potential teratogenic exposure to relatively new drugs with limited published animal data... - Oculo-ectodermal syndrome: is arachnoid cyst a common finding?Madelena M Martin
Division of Genetics, Department of Pediatrics, University of California, San Francisco, CA 94143 0748, USA
Clin Dysmorphol 16:35-8. 2007..This is the third case of oculo-ectodermal syndrome with arachnoid cyst reported in the literature, and suggests that arachnoid cyst may be a phenotypic feature of oculo-ectodermal syndrome... - Report of a child with aortic aneurysm, orofacial clefting, hemangioma, upper sternal defect, and marfanoid features: possible PHACE syndromeAnne M Slavotinek
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
Am J Med Genet 110:283-8. 2002..We would also like to emphasize the minor nature of the cutaneous findings in our patient despite her severe vascular complications. This is in contrast to previous reports of large or multiple hemangiomas in PHACE syndrome... - Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragmNelson LopezJimenez
Division of Genetics, Department of Pediatrics, University of California, 533 Parnassus St, Room U585P, San Francisco, CA 94143 0748, USA
Hum Genet 127:325-36. 2010..Further studies to determine if Lrtm1 has a similar function to Slit3 and if reduced Fgfrl1 expression can cause diaphragm hypoplasia through a mechanism involving decreased myoblast motility and/or myoblast fusion, seem indicated... - 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.... - Fryns syndrome with osteochondrodysplasiaAnne M Slavotinek
Am J Med Genet A 134:454-6. 2005 - Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determinationEmma N Hilton
Academic Unit of Medical Genetics and Regional Genetic Service, St Mary s Hospital, Manchester, UK
Hum Mol Genet 16:1773-82. 2007..Expression of xtPitx2c was shown to be downregulated when xtBcor was depleted. This identifies a pathway in which xtBcor is required for lateral specification, a process intrinsically linked to correct cardiac septal development... - Fryns syndrome: report of eight new casesAnne M Slavotinek
Genet Med 7:74-6. 2005 - Large interstitial deletion of chromosome 13q and severe short stature: clinical report and review of the literatureAnne M Slavotinek
Clin Dysmorphol 12:195-6. 2003..12q31.2)]. We believe that this case is interesting because of the large size of the chromosome deletion, the severe growth retardation seen in the proband and her prolonged survival...
Research Grants
- Genetic analysis of congenital diaphragmatic herniaAnne Slavotinek; Fiscal Year: 2006..abstract_text> ..
- Molecular Genetic Analysis of Congenital Diaphragmatic HerniaAnne Slavotinek; Fiscal Year: 2007....