Maureen Bocian • UCI Profiles

Maureen E Bocian

Title(s)	Recall Faculty, Pediatrics
School	School of Medicine
Address	1001 Health Sciences Road Irvine CA 92697-3950
Phone	(714) 456-5791, 6880
vCard	Download vCard

Bibliographic

Publications

Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.

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De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. Am J Hum Genet. 2015 Mar 05; 96(3):462-73. Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN, Bocian M, Foulds N, Uzielli ML, Haldeman-Englert C, Hennekam RC, Kaplan P, Kline AD, Mercer CL, Nowaczyk MJ, Klein Wassink-Ruiter JS, McPherson EW, Moreno RA, Scheuerle AE, Shashi V, Stevens CA, Carey JC, Monteil A, Lory P, Tabor HK, Smith JD, Shendure J, Nickerson DA, University of Washington Center for Mendelian Genomics, Bamshad MJ. PMID: 25683120; PMCID: PMC4375444.

View in: PubMed Mentions: 73 Fields:
Gen Genetics
Translation:Humans
Impact of Cell-Free Fetal DNA Screening on Patients' Choice of Invasive Procedures after a Positive California Prenatal Screen Result. J Clin Med. 2014 Jul 24; 3(3):849-64. Shah FT, French KS, Osann KE, Bocian M, Jones MC, Korty L. PMID: 26237481; PMCID: PMC4449655.

View in: PubMed Mentions: 1
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat. 2010 Oct; 31(10):1142-54. Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA, Bocian M, Bodurtha JN, Cox GF, Curry CJ, Day R, Donnai D, Field M, Fujiwara I, Gabbett M, Gal M, Graham JM, Hedera P, Hennekam RC, Hersh JH, Hopkin RJ, Kayserili H, Kidd AM, Kimonis V, Lin AE, Lynch SA, Maisenbacher M, Mansour S, McGaughran J, Mehta L, Murphy H, Raygada M, Robin NH, Rope AF, Rosenbaum KN, Schaefer GB, Shealy A, Smith W, Soller M, Sommer A, Stalker HJ, Steiner B, Stephan MJ, Tilstra D, Tomkins S, Trapane P, Tsai AC, Van Allen MI, Vasudevan PC, Zabel B, Zunich J, Black GC, Biesecker LG. PMID: 20672375; PMCID: PMC2947617.

View in: PubMed Mentions: 48 Fields:
Gen Genetics
Translation:Humans
Development and validation of a measure of dysmorphology: useful for autism subgroup classification. Am J Med Genet A. 2008 May 01; 146A(9):1101-16. Miles JH, Takahashi TN, Hong J, Munden N, Flournoy N, Braddock SR, Martin RA, Bocian ME, Spence MA, Hillman RE, Farmer JE. PMID: 18383511.

View in: PubMed Mentions: 29 Fields:
Gen Genetics
Translation:Humans
Computed tomographic reconstruction of a fetus with the dysgnathia complex (agnathia-otocephaly). Prenat Diagn. 2007 Feb; 27(2):130-2. Rajan PV, Wing DA, Bocian M, McKeown A. PMID: 17152114.

View in: PubMed Mentions: 1 Fields:
Obs Obstetrics
Translation:Humans
Head circumference and height in autism: a study by the Collaborative Program of Excellence in Autism. Am J Med Genet A. 2006 Nov 01; 140(21):2257-74. Lainhart JE, Bigler ED, Bocian M, Coon H, Dinh E, Dawson G, Deutsch CK, Dunn M, Estes A, Tager-Flusberg H, Folstein S, Hepburn S, Hyman S, McMahon W, Minshew N, Munson J, Osann K, Ozonoff S, Rodier P, Rogers S, Sigman M, Spence MA, Stodgell CJ, Volkmar F. PMID: 17022081; PMCID: PMC4899843.

View in: PubMed Mentions: 177 Fields:
Gen Genetics
Translation:Humans
Preconception and prenatal testing of biologic fathers for carrier status. American College of Medical Genetics. Genet Med. 2006 Feb; 8(2):134-5. Pletcher BA, Bocian M, American College of Medical Genetics. PMID: 16481898; PMCID: PMC3110958.

View in: PubMed Mentions: 3 Fields:
Gen Genetics
Translation:Humans
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, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5R. BMC Med Genet. 2004 Apr 16; 5:10. Ramanathan S, Woodroffe A, Flodman PL, Mays LZ, Hanouni M, Modahl CB, Steinberg-Epstein R, Bocian ME, Spence MA, Smith M. PMID: 15090072; PMCID: PMC411038.

View in: PubMed Mentions: 33 Fields:
Gen Genetics
Translation:Humans Cells
Mitochondrial dysfunction in autistic patients with 15q inverted duplication. Ann Neurol. 2003 Jun; 53(6):801-4. Filipek PA, Juranek J, Smith M, Mays LZ, Ramos ER, Bocian M, Masser-Frye D, Laulhere TM, Modahl C, Spence MA, Gargus JJ. PMID: 12783428.

View in: PubMed Mentions: 51 Fields:
Neu Neurology
Translation:Humans Cells