JacquelineSiegel-BarteltMD

PubMed

• 24 citations
  Additional EFNB1 mutations in craniofrontonasal syndrome
  Deeann Wallis, Felicitas Lacbawan, Mahim Jain, Vazken M. Der Kaloustian, Carlos Eduardo Steiner, John B. Moeschler, H. Wolfgang Losken, Ilkka Kaitila, Stephen Cantrell...> ;American Journal of Medical Genetics. Part A. 2008 Aug 1
• 87 citations
  Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly
  Erich Roessler, Deeann E. Ward, Karin Gaudenz, Elena Belloni, Steven W. Scherer, Dian Donnai, J. Siegel-Bartelt, Lap-Chee Tsui, Maximilian Muenke> ;Human Genetics. 1997 Jul 9
• 9 citations
  Velocardiofacial syndrome presenting as hypocalcemia in early adolescence.
  Karen Salvesen Sykes, Laura K. Bachrach, Jacqueline Siegel-Bartelt, Moshe Ipp, Sang Whay Kooh, Cheryl Cytrynbaum> ;Archives of Pediatrics & Adolescent Medicine. 1997 Jul 1
• 708 citations
  Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome
  Elena V. Semina, Rebecca S. Reiter, Nancy J. Leysens, Wallace L.M. Alward, K. W. Small, Nicole A. Datson, J. Siegel-Bartelt, D. Bierke-Nelson, Pierre Bitoun, B. U. Zab...> ;Nature Genetics. 1996 Dec 1
• 498 citations
  Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly
  Elena Belloni, Maximilian Muenke, E. Roessler, Giovanni Traverso, J. Siegel-Bartelt, A. Frumkin, H. F. Mitchell, Helen Donis-Keller, C. Helms, A. V. Hing, Henry H.Q. H...> ;Nature Genetics. 1996 Nov 1
• 33 citations
  A gene for cleidocranial dysplasia maps to the short arm of chromosome 6.
  George J. Feldman, Nathaniel H. Robin, Louise Brueton, E Robertson, Elizabeth Thompson, J. Siegel-Bartelt, David L. Gasser, L C Bailey, Elaine H. Zackai, Maximilian Mu...> ;American Journal of Human Genetics. 1995 Apr 1
• Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature.
  Fernandez, B. A., Siegel-Bartelt, J., Herbrick, J. A., Teshima, I., Scherer, S. W.> ;Clin Genet. 2005 Oct
• Velo-cardio-facial syndrome: Implications of microdeletion 22q11 for schizophrenia and mood disorders.
  Arnold, P. D., Siegel-Bartelt, J., Cytrynbaum, C., Teshima, I., Schachar, R.> ;Am J Med Genet. 2001 May 8
• Microdeletion 22q11.2: clinical data and deletion size.
  Kerstjens-Frederikse, W. S., Kurahashi, H., Driscoll, D. A., Budarf, M. L., Emanuel, B. S., Beatty, B., Scheidl, T., Siegel-Bartelt, J., Henderson, K., Cytrynbaum, C.,...> ;J Med Genet. 1999 Sep
• Cutaneous telangiectasias, sparse hair, and type I membranoproliferative glomerulonephritis.
  Gupta, I. R., Tsai, C. H., Siegel-Bartelt, J., Thorner, P., Balfe, J. W.> ;Pediatr Nephrol. 1999 Feb
• Congenital cytoplasmic body myopathy with survival motor neuron gene deletion or Werdnig-Hoffmann disease.
  Vajsar, J., Balslev, T., Ray, P. N., Siegel-Bartelt, J., Jay, V.> ;Neurology. 1998 Sep
• FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome.
  Chun, K., Siegel-Bartelt, J., Chitayat, D., Phillips, J., Ray, P. N.> ;Am J Med Genet. 1998 May 18
• MRI findings in macrocephaly-cutis marmorata telangiectatica congenita.
  Carcao, M., Blaser, S. I., Grant, R. M., Weksberg, R., Siegel-Bartelt, J.> ;Am J Med Genet. 1998 Mar 5
• Familial ileal perforation: prenatal diagnosis and postnatal follow-up.
  Chitayat, D., Grisaru-Granovsky, S., Ryan, G., Toi, A., Filler, R., Seaward, G. R., Siegel-Bartelt, J., Cytrynbaum, C.> ;Prenat Diagn. 1998 Jan
• Computerized videokeratography of keratoconus kindreds.
  Morrow, G. L., Stein, R. M., Racine, J. S., Siegel-Bartelt, J.> ;Can J Ophthalmol. 1997 Jun
• Deletion 4q21/4q22 syndrome: two patients with de novo 4q21.3q23 and 4q13.2q23 deletions.
  Nowaczyk, M. J., Teshima, I. E., Siegel-Bartelt, J., Clarke, J. T.> ;Am J Med Genet. 1997 Apr 14
• Hirschsprung disease, postaxial polydactyly, and atrial septal defect.
  Nowaczyk, M. J., James, A. G., Superina, R., Siegel-Bartelt, J.> ;Am J Med Genet. 1997 Jan 10
• FISH detection of chromosome 15 deletions in Prader-Willi and Angelman syndromes.
  Teshima, I., Chadwick, D., Chitayat, D., Kobayashi, J., Ray, P., Shuman, C., Siegel-Bartelt, J., Strasberg, P., Weksberg, R.> ;Am J Med Genet. 1996 Mar 29
• Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis.
  Terespolsky, D., Farrell, S. A., Siegel-Bartelt, J., Weksberg, R.> ;Am J Med Genet. 1995 Nov 20
• A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome an...
  Hou, J., Parrish, J., Lüdecke, H. J., Sapru, M., Wang, Y., Chen, W., Hill, A., Siegel-Bartelt, J., Northrup, H., Elder, F. F.> ;Genomics. 1995 Sep 1
• Clinical variability within Brachmann-de Lange syndrome: a proposed classification system.
  Van Allen, M. I., Filippi, G., Siegel-Bartelt, J., Yong, S. L., McGillivray, B., Zuker, R. M., Smith, C. R., Magee, J. F., Ritchie, S., Toi, A.> ;Am J Med Genet. 1993 Nov 15
• Ocular manifestations of frontonasal dysplasia.
  Roarty, J. D., Pron, G. E., Siegel-Bartelt, J., Posnick, J. C., Buncic, J. R.> ;Plast Reconstr Surg. 1994 Jan
• Prenatal diagnosis of neonatal alloimmune thrombocytopenia using an allele-specific oligonucleotide probe.
  Johnson, J. M., McFarland, J. G., Blanchette, V. S., Freedman, J., Siegel-Bartelt, J.> ;Prenat Diagn. 1993 Nov
• Molecular characterization of the marker chromosome associated with cat eye syndrome.
  Mears, A. J., Duncan, A. M., Budarf, M. L., Emanuel, B. S., Sellinger, B., Siegel-Bartelt, J., Greenberg, C. R., McDermid, H. E.> ;Am J Hum Genet. 1994 Jul
• Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3.
  Nesslinger, N. J., Gorski, J. L., Kurczynski, T. W., Shapira, S. K., Siegel-Bartelt, J., Dumanski, J. P., Cullen, R. F., French, B. N., McDermid, H. E.> ;Am J Hum Genet. 1994 Mar
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