Alan L Shanske

Summary

Publications

  1. doi request reprint Bilateral oblique facial clefts and extremity anomaly in an infant after intrauterine efavirenz exposure and review of its teratogenic risk
    Alan L Shanske
    Center for Craniofacial Disorders, Children s Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York, USA
    AIDS 26:1775-9. 2012
  2. doi request reprint Germline mosacism in Shprintzen-Goldberg syndrome
    Alan L Shanske
    Center for Craniofacial Disorders, Children s Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York 10804, USA
    Am J Med Genet A 158:1574-8. 2012
  3. ncbi request reprint An adult with 49,XYYYY karyotype: case report and endocrine studies
    A Shanske
    Department of Pediatrics, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York 10467, USA
    Am J Med Genet 80:103-6. 1998
  4. doi request reprint Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13)
    Alan L Shanske
    The Center for Craniofacial Disorders, Children s Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York 10467, USA
    Am J Med Genet A 146:3211-6. 2008
  5. ncbi request reprint Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13
    A Shanske
    Children s Hospital at Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York 10467, USA
    Am J Med Genet 102:231-6. 2001
  6. doi request reprint Introductory comments on special section-new developments in craniofacial biology: putting on a happy face
    Alan L Shanske
    Center for Craniofacial Disorders, Children s Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York 10467, USA
    Am J Med Genet A 152:2943-6. 2010
  7. ncbi request reprint Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) in triplet pregnancy after IVF and CVS
    Alan L Shanske
    Center for Congenital Disorders, Children s Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York 10467, USA
    Birth Defects Res A Clin Mol Teratol 67:467-71. 2003
  8. doi request reprint The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature
    Edina Torgyekes
    College of Physicians and Surgeons of Columbia University, New York, New York, USA
    Am J Med Genet A 155:1884-96. 2011
  9. ncbi request reprint A syndrome of holoprosencephaly, recurrent infections, and monocytosis
    Paul T Jubinsky
    Pediatric Hematology Oncology, Albert Einstein College of Medicine and Children s Hospital at Montefiore, Bronx, New York, USA
    Am J Med Genet A 140:2742-8. 2006
  10. ncbi request reprint Joubert syndrome: monozygotic twins with discordant phenotypes
    H R Raynes
    Department of Neurology, Jacobi and Montefiore Medical Centers, Albert Einstein College of Medicine of Yeshiva University, Bronx, NY 10467, USA
    J Child Neurol 14:649-54; discussion 669-72 discussio. 1999

Collaborators

Detail Information

Publications23

  1. doi request reprint Bilateral oblique facial clefts and extremity anomaly in an infant after intrauterine efavirenz exposure and review of its teratogenic risk
    Alan L Shanske
    Center for Craniofacial Disorders, Children s Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York, USA
    AIDS 26:1775-9. 2012
    ..Our objective was to report a case of this very event, which also followed an unusual intrauterine exposure and review the literature on the teratogenic risk of efavirenz...
  2. doi request reprint Germline mosacism in Shprintzen-Goldberg syndrome
    Alan L Shanske
    Center for Craniofacial Disorders, Children s Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York 10804, USA
    Am J Med Genet A 158:1574-8. 2012
    ..This suggests there may be multiple other genetic factors that result in a common clinical phenotype and a number of investigators have implicated a fourth region (15q25-qter) in the etiology of SGS...
  3. ncbi request reprint An adult with 49,XYYYY karyotype: case report and endocrine studies
    A Shanske
    Department of Pediatrics, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York 10467, USA
    Am J Med Genet 80:103-6. 1998
    ....
  4. doi request reprint Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13)
    Alan L Shanske
    The Center for Craniofacial Disorders, Children s Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York 10467, USA
    Am J Med Genet A 146:3211-6. 2008
    ..3-q24.13. The deletion is one of the largest ever found in TRPS II, and spans 19.79 Mb and 50 genes or loci including TRPS1 and EXT1. The degree of mosaicism is 7% in lymphocytes from peripheral blood and 97% in skin fibroblasts...
  5. ncbi request reprint Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13
    A Shanske
    Children s Hospital at Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York 10467, USA
    Am J Med Genet 102:231-6. 2001
    ..We report on an additional patient with a deletion in 13q and Hirschsprung disease. Congenital anomalies associated with deletions of the distal long arm of chromosome 13 are sufficiently consistent to suggest a clinical syndrome...
  6. doi request reprint Introductory comments on special section-new developments in craniofacial biology: putting on a happy face
    Alan L Shanske
    Center for Craniofacial Disorders, Children s Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York 10467, USA
    Am J Med Genet A 152:2943-6. 2010
    ....
  7. ncbi request reprint Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) in triplet pregnancy after IVF and CVS
    Alan L Shanske
    Center for Congenital Disorders, Children s Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York 10467, USA
    Birth Defects Res A Clin Mol Teratol 67:467-71. 2003
    ..Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is a rare sporadic condition...
  8. doi request reprint The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature
    Edina Torgyekes
    College of Physicians and Surgeons of Columbia University, New York, New York, USA
    Am J Med Genet A 155:1884-96. 2011
    ..Our review found a patient with a mirror duplication of our first patient's deletion, confirming the existence of an underlying genomic structural instability in the region. © 2011 Wiley-Liss, Inc...
  9. ncbi request reprint A syndrome of holoprosencephaly, recurrent infections, and monocytosis
    Paul T Jubinsky
    Pediatric Hematology Oncology, Albert Einstein College of Medicine and Children s Hospital at Montefiore, Bronx, New York, USA
    Am J Med Genet A 140:2742-8. 2006
    ..This is the first report demonstrating an association between abnormal mononuclear phagocytes and holoprosencephaly...
  10. ncbi request reprint Joubert syndrome: monozygotic twins with discordant phenotypes
    H R Raynes
    Department of Neurology, Jacobi and Montefiore Medical Centers, Albert Einstein College of Medicine of Yeshiva University, Bronx, NY 10467, USA
    J Child Neurol 14:649-54; discussion 669-72 discussio. 1999
    ..Phenotypic differences between the twins could be attributable to postzygotic unequal division of the inner cell mass, unequal sharing of the venous return from a monochorionic placenta, mosaicism, or a mutation of a modifying gene...
  11. pmc Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients
    Sean B Herman
    Department of Genetics, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    Am J Med Genet A 158:2781-7. 2012
    ..This raises the possibility that genes elsewhere on the remaining allele of 22q11.2 or in the genome could be relevant...
  12. doi request reprint Sacral appendage in a child with an FGFR2 mutation: a report and review
    Alan L Shanske
    Center for Craniofacial Disorders, Children s Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York 10467, USA
    Am J Med Genet A 146:2172-5. 2008
  13. ncbi request reprint Chondrodysplasia punctata and maternal autoimmune disease: a new case and review of the literature
    Alan L Shanske
    Center for Craniofacial Disorders, Children s Hospital at Montefiore, 3415 Bainbridge Ave, Bronx, NY 10467, USA
    Pediatrics 120:e436-41. 2007
    ..This case is compared with the previously reported 9 cases from the literature and is instructive in demonstrating a lesser known effect of maternal autoantibodies on the fetus...
  14. ncbi request reprint TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome
    Deborah A McDermott
    Department of Medicine, Weill Medical College of Cornell University, New York, New York 10021, USA
    Pediatr Res 58:981-6. 2005
    ..Accordingly, TBX5 genotyping has high sensitivity and specificity for HOS if stringent diagnostic criteria are used in assigning the clinical diagnosis...
  15. doi request reprint Interparietal bone (Os Incae) in craniosynostosis
    June K Wu
    Department of Plastic and Reconstructive Surgery, Albert Einstein College of Medicine, Bronx, New York, USA
    Am J Med Genet A 155:287-94. 2011
    ..Hypotheses regarding mechanisms that may contribute to the formation of an interparietal bone are discussed...
  16. pmc Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome
    Nicholas K Rorick
    Department of Pediatrics, University of Iowa, Iowa City, USA
    Am J Med Genet A 155:1314-21. 2011
    ..The expression and mutation data were consistent with the hypothesis that WDR65 was a novel gene involved in oral clefting...
  17. doi request reprint Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtia
    Dennis C Monks
    Division of Translational Genetics, Department of Genetics, Albert Einstein College of Medicine, 1301 Morris Park Avenue, Price Center 402, Bronx, NY 10461, USA
    Int J Pediatr Otorhinolaryngol 74:878-82. 2010
    ..Mutations in the homeobox gene HOXA2 caused microtia in a single Iranian family. Another homeobox gene, SIX2, acts downstream of HOXA2 during development and provides another possible candidate for mutational analysis...
  18. ncbi request reprint First-trimester diagnosis of Bartsocas-Papas syndrome (BPS) by transvaginal ultrasound: case report and review of the literature
    Siobhan M Dolan
    Division of Reproductive Genetics, Department of Obstetrics and Gynecology and Women s Health, Albert Einstein College of Medicine and Montefiore Medical Center, 1635 Poplar Street, 2nd Floor, Bronx, NY 10461, USA
    Prenat Diagn 23:138-42. 2003
    ..We describe a fourth surviving patient and what we believe to be the first prenatal diagnosis of BPS in the first trimester...
  19. pmc AT-rich palindromes mediate the constitutional t(11;22) translocation
    L Edelmann
    Department of Molecular Genetics, Albert Einstein College of Medicine, New York, NY, USA
    Am J Hum Genet 68:1-13. 2001
    ....
  20. ncbi request reprint Possible new syndrome of microcephaly with cortical migration defects, Peters anomaly and multiple intestinal atresias: a multiple vascular disruption syndrome
    Alan L Shanske
    Clin Dysmorphol 11:67-9. 2002
    ..A possible new multiple vascular disruption symdrome is described. The male patient had microcephaly with cortical migration defects, Peters anomaly and multiple inestinal atresias...
  21. ncbi request reprint Trisomy 18 in a second 20-year-old woman
    Alan L Shanske
    Am J Med Genet A 140:966-7. 2006
  22. ncbi request reprint Prenatal diagnosis of marshall syndrome by targeted sonography
    Daniela Iacoboni
    Department of Obstetrics and Gynecology, North Central Bronx Hospital, Room 7M 06, 3424 Kossuth Ave, Bronx, NY 10467 USA
    J Ultrasound Med 24:1735-7. 2005
  23. pmc NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects
    Weining Lu
    Genetics Division, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America
    PLoS Genet 3:e80. 2007
    ....