Maureen EBocianMD

PubMed

• 26 citations
  Somatic stigmata of Turner's syndrome in a patient with 46,XXq-.
  Bocian M, E Krmpotic, K Szego, I M Rosenthal> ;Journal of Medical Genetics. 1971 Sep 1
• 8 citations
  Trisomy F(?20). Report of A 14q-F(?20) familial translocation.
  E Krmpotic, I M Rosenthal, K Szego, Bocian M> ;Annales De Genetique. 1971 Dec 1
• 5 citations
  A new autosomal dominant syndrome of hypohidrotic ectodermal dysplasia and unusual facies.
  Bocian M, Rimoin Dl> ;Birth Defects Original Article Series. 1979 Jan 1
• 103 citations
  De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
  Jessica X. Chong, Margaret J. McMillin, Kathryn M. Shively, Anita E. Beck, Colby T. Marvin, Jose R. Armenteros, Kati J. Buckingham, Naomi T. Nkinsi, Evan A. Boyle, Mar...> ;American Journal of Human Genetics. 2015 Mar 5
• 4 citations
  Impact of Cell-Free Fetal DNA Screening on Patients' Choice of Invasive Procedures after a Positive California Prenatal Screen Result.
  Forum T. Shah, Kathryn Steinhaus French, Kathryn Osann, Maureen Bocian, Marilyn C. Jones, Lauren Korty> ;Journal of Clinical Medicine. 2014 Jul 24
• 90 citations
  Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations
  Jennifer J. Johnston, Julie C. Sapp, Joyce T. Turner, David J. Amor, Salim Aftimos, Kyrieckos A. Aleck, Maureen Bocian, Joann Bodurtha, Gerald F. Cox, Cynthia J. Curry...> ;Human Mutation. 2010 Oct 1
• 2 citations
  Importance of accurate diagnosis in counseling for neural tube defects diagnosed prenatally.
  Kathryn A. Steinhaus, Renee Bernstein, Maureen Bocian> ;Clinical Genetics. 2008 Jun 28
• 28 citations
  Trisomy of the short arm of chromosome 8: Association with translocation between chromosomes 8 and 22 46,XY,22−,t(8p22q)+
  Ira M. Rosenthal, Eva Krmpotic, Maureen Bocian, Katarina Szego> ;Clinical Genetics. 2008 Apr 23
• 13 citations
  A syndrome of short stature, joint laxity and developmental delay
  Anderson Ce, Maureen Bocian, Walker Ap, Lachman R, David L. Rimoin> ;Clinical Genetics. 2008 Apr 23
• 10 citations
  Computed tomographic reconstruction of a fetus with the dysgnathia complex (agnathia-otocephaly)
  Priya V. Rajan, Deborah A. Wing, Maureen Bocian, Anna McKeown> ;Prenatal Diagnosis. 2007 Feb 1
• 254 citations
  Head circumference and height in autism: a study by the Collaborative Program of Excellence in Autism.
  Janet E. Lainhart, Erin D. Bigler, Maureen Bocian, Hilary Coon, Elena Dinh, Geraldine Dawson, Curtis K. Deutsch, Michelle Dunn, Annette Estes, Helen Tager-Flusberg, Su...> ;American Journal of Medical Genetics. Part A. 2006 Nov 1
• 12 citations
  Preconception and prenatal testing of biologic fathers for carrier status
  Beth A. Pletcher, Maureen Bocian> ;Genetics in Medicine. 2006 Feb 1
• 74 citations
  A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, ...
  Subhadra Ramanathan, Abigail Woodroffe, Pamela Flodman, Lee Z. Mays, Mona Hanouni, Charlotte Modahl, Robin Steinberg-Epstein, Maureen Bocian, M. Anne Spence, Moyra Smith> ;BMC Medical Genetics. 2004 Apr 16
• 87 citations
  Mitochondrial dysfunction in autistic patients with 15q inverted duplication
  Pauline A. Filipek, Jenifer Juranek, Moyra Smith, Lee Z. Mays, Erica Ramos, Maureen Bocian, Diane Masser-Frye, Tracy M. Laulhere, Charlotte Modahl, M. Anne Spence, J. ...> ;Annals of Neurology. 2003 Jun 1
• 10 citations
  Respiratory complex II defect in siblings associated with a symptomatic secondary block in fatty acid oxidation.
  J. Jay Gargus, K. Boyle, Maureen Bocian, Diane S. Roe, Christine Vianey-Saban, Charles R. Roe> ;Journal of Inherited Metabolic Disease. 2003 Jan 1
• 40 citations
  Molecular genetic delineation of a deletion of chromosome 13q12-->q13 in a patient with autism and auditory processing deficits.
  Moyra Smith, Abigail Woodroffe, R. Smith, S. Holguin, J. Martinez, Pauline A. Filipek, Charlotte Modahl, B. Moore, Maureen Bocian, Lee Z. Mays, Tracy M. Laulhere, Pame...> ;Cytogenetic and Genome Research. 2002 Jan 1
• 41 citations
  Molecular genetic delineation of 2q37.3 deletion in autism and osteodystrophy: report of a case and of new markers for deletion screening by PCR.
  Moyra Smith, J. R. Escamilla, Pauline A. Filipek, Maureen Bocian, Charlotte Modahl, Pamela Flodman, M.A. Spence> ;Cytogenetics and Cell Genetics. 2001 Jan 1
• 36 citations
  Analysis of a 1-megabase deletion in 15q22-q23 in an autistic patient: Identification of candidate genes for autism and of homologous DNA segments in 15q22-q23 and 15q...
  Moyra Smith, Pauline A. Filipek, Charles Wu, Maureen Bocian, Simin Hakim, Charlotte Modahl, M. Anne Spence> ;American Journal of Medical Genetics. 2000 Dec 4
• 269 citations
  The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly
  Luisa Nanni, Jeffrey E. Ming, Maureen Bocian, Kathryn A. Steinhaus, Diana W. Bianchi, Christine E. M. de Die-Smulders, Aldo Giannotti, Kiyoshi Imaizumi, Kenneth L. Jon...> ;Human Molecular Genetics. 1999 Dec 1
• 33 citations
  Child with mosaic variegated aneuploidy and embryonal rhabdomyosarcoma.
  Chanin Limwongse, Stuart Schwartz, Maureen Bocian, Nathaniel H. Robin> ;American Journal of Medical Genetics. 1999 Jan 1
• 39 citations
  A High-Resolution Physical and Transcript Map of the Cri du Chat Region of Human Chromosome 5p
  Deanna M. Church, Julie Yang, Maureen Bocian, Rita Shiang, John J. Wasmuth> ;Genome Research. 1997 Aug 1
• 85 citations
  Multiple vertebral segmentation defects: Analysis of 26 new patients and review of the literature
  Geert Mortier, Ralph S. Lachman, Maureen Bocian, David L. Rimoin> ;American Journal of Medical Genetics. 1996 Feb 2
• 920 citations
  Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia.
  Rita Shiang, Leslie M. Thompson, Ya-Zhen Zhu, Deanna M. Church, Thomas J. Fielder, Maureen Bocian, Sara T. Winokur, John J. Wasmuth> ;Cell. 1994 Jul 29
• 6 citations
  Identification of a cryptic t(5;7) reciprocal translocation by fluorescent in situ hybridization.
  Renee Bernstein, Maureen Bocian, Mary Jo Cain, Ulla Bengtsson, John J. Wasmuth> ;American Journal of Medical Genetics. 1993 Apr 1
• 27 citations
  Atelosteogenesis type III : a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II
  Harvey J. Stern, John M. Graham, Ralph S. Lachman, William Horton, Philip M. Bernini, Peter K. Spiegel, Joann Bodurtha, Elizabeth Ives, Maureen Bocian, David L. Rimoin> ;American Journal of Medical Genetics. 1990 Jun 1
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