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Results: 1 to 20 of 329

1.

Accurate, fast and cost-effective diagnostic test for monosomy 1p36 using real-time quantitative PCR.

Cunha Pda S, Pena HB, D'Angelo CS, Koiffmann CP, Rosenfeld JA, Shaffer LG, Stofanko M, Gonçalves-Dornelas H, Pena SD.

Dis Markers. 2014;2014:836082. doi: 10.1155/2014/836082. Epub 2014 Apr 15.

PMID:
24839341
[PubMed - in process]
Free PMC Article
2.

6q22.1 microdeletion and susceptibility to pediatric epilepsy.

Szafranski P, Von Allmen GK, Graham BH, Wilfong AA, Kang SH, Ferreira JA, Upton SJ, Moeschler JB, Bi W, Rosenfeld JA, Shaffer LG, Wai Cheung S, Stankiewicz P, Lalani SR.

Eur J Hum Genet. 2014 May 14. doi: 10.1038/ejhg.2014.75. [Epub ahead of print]

PMID:
24824130
[PubMed - as supplied by publisher]
3.

Large inverted duplications in the human genome form via a fold-back mechanism.

Hermetz KE, Newman S, Conneely KN, Martin CL, Ballif BC, Shaffer LG, Cody JD, Rudd MK.

PLoS Genet. 2014 Jan 30;10(1):e1004139. doi: 10.1371/journal.pgen.1004139. eCollection 2014 Jan.

PMID:
24497845
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

In case you missed it: the Prenatal Diagnosis section editors bring you the most significant advances of 2013.

Bianchi DW, Van Mieghem T, Shaffer LG, Faas BH, Chitty LS, Ghidini A, Deprest J.

Prenat Diagn. 2014 Jan;34(1):1-5. doi: 10.1002/pd.4288. No abstract available.

PMID:
24382791
[PubMed - in process]
5.

Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome.

Overhoff J, Rabideau MM, Bird LM, Schweitzer DN, Haynes K, Schultz RA, Shaffer LG, Rosenfeld JA, Ellison JW.

Am J Med Genet A. 2014 Jan;164A(1):259-63. doi: 10.1002/ajmg.a.36163. Epub 2013 Nov 20. No abstract available.

PMID:
24259484
[PubMed - in process]
6.

Neuropathology of brain and spinal malformations in a case of monosomy 1p36.

Shiba N, Daza RA, Shaffer LG, Barkovich AJ, Dobyns WB, Hevner RF.

Acta Neuropathol Commun. 2013 Aug 2;1(1):45. doi: 10.1186/2051-5960-1-45.

PMID:
24252393
[PubMed]
Free PMC Article
7.

Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patients.

Chowdhury S, Bandholz AM, Parkash S, Dyack S, Rideout AL, Leppig KA, Thiese H, Wheeler PG, Tsang M, Ballif BC, Shaffer LG, Torchia BS, Ellison JW, Rosenfeld JA.

Am J Med Genet A. 2014 Jan;164A(1):62-9. doi: 10.1002/ajmg.a.36201. Epub 2013 Nov 15.

PMID:
24243649
[PubMed - in process]
8.

Effect of copy number variants on outcomes for infants with single ventricle heart defects.

Carey AS, Liang L, Edwards J, Brandt T, Mei H, Sharp AJ, Hsu DT, Newburger JW, Ohye RG, Chung WK, Russell MW, Rosenfeld JA, Shaffer LG, Parides MK, Edelmann L, Gelb BD.

Circ Cardiovasc Genet. 2013 Oct;6(5):444-51. doi: 10.1161/CIRCGENETICS.113.000189. Epub 2013 Sep 10.

PMID:
24021551
[PubMed - indexed for MEDLINE]
9.

The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature.

Callaway JL, Shaffer LG, Chitty LS, Rosenfeld JA, Crolla JA.

Prenat Diagn. 2013 Dec;33(12):1119-23. doi: 10.1002/pd.4209. Epub 2013 Sep 8.

PMID:
23983223
[PubMed - in process]
10.

Mouse model implicates GNB3 duplication in a childhood obesity syndrome.

Goldlust IS, Hermetz KE, Catalano LM, Barfield RT, Cozad R, Wynn G, Ozdemir AC, Conneely KN, Mulle JG, Dharamrup S, Hegde MR, Kim KH, Angle B, Colley A, Webb AE, Thorland EC, Ellison JW, Rosenfeld JA, Ballif BC, Shaffer LG, Demmer LA; Unique Rare Chromosome Disorder Support Group, Rudd MK.

Proc Natl Acad Sci U S A. 2013 Sep 10;110(37):14990-4. doi: 10.1073/pnas.1305999110. Epub 2013 Aug 26.

PMID:
23980137
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization.

Repnikova EA, Rosenfeld JA, Bailes A, Weber C, Erdman L, McKinney A, Ramsey S, Hashimoto S, Lamb Thrush D, Astbury C, Reshmi SC, Shaffer LG, Gastier-Foster JM, Pyatt RE.

Forensic Sci Int Genet. 2013 Sep;7(5):475-81. doi: 10.1016/j.fsigen.2013.05.008. Epub 2013 Jun 28.

PMID:
23948316
[PubMed - indexed for MEDLINE]
12.

Microarray-based prenatal diagnosis for the identification of fetal chromosome abnormalities.

Shaffer LG, Rosenfeld JA.

Expert Rev Mol Diagn. 2013 Jul;13(6):601-11. doi: 10.1586/14737159.2013.811912. Review.

PMID:
23895129
[PubMed - indexed for MEDLINE]
13.

Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.

Shuvarikov A, Campbell IM, Dittwald P, Neill NJ, Bialer MG, Moore C, Wheeler PG, Wallace SE, Hannibal MC, Murray MF, Giovanni MA, Terespolsky D, Sodhi S, Cassina M, Viskochil D, Moghaddam B, Herman K, Brown CW, Beck CR, Gambin A, Cheung SW, Patel A, Lamb AN, Shaffer LG, Ellison JW, Ravnan JB, Stankiewicz P, Rosenfeld JA.

Hum Mutat. 2013 Oct;34(10):1415-23. doi: 10.1002/humu.22384. Epub 2013 Aug 13.

PMID:
23878096
[PubMed - indexed for MEDLINE]
14.

The 2012 Malcolm Ferguson-Smith Young Investigator Award.

Bianchi DW, Chitty LS, Deprest J, Ghidini A, Shaffer LG, Cousens RK.

Prenat Diagn. 2013 Jul;33(7):619-20. doi: 10.1002/pd.4169. No abstract available.

PMID:
23824976
[PubMed - indexed for MEDLINE]
15.

Cytogenetic Nomenclature: Changes in the ISCN 2013 Compared to the 2009 Edition.

Simons A, Shaffer LG, Hastings RJ.

Cytogenet Genome Res. 2013 Jun 28. [Epub ahead of print]

PMID:
23817294
[PubMed - as supplied by publisher]
Free Article
16.

The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.

Curry CJ, Rosenfeld JA, Grant E, Gripp KW, Anderson C, Aylsworth AS, Saad TB, Chizhikov VV, Dybose G, Fagerberg C, Falco M, Fels C, Fichera M, Graakjaer J, Greco D, Hair J, Hopkins E, Huggins M, Ladda R, Li C, Moeschler J, Nowaczyk MJ, Ozmore JR, Reitano S, Romano C, Roos L, Schnur RE, Sell S, Suwannarat P, Svaneby D, Szybowska M, Tarnopolsky M, Tervo R, Tsai AC, Tucker M, Vallee S, Wheeler FC, Zand DJ, Barkovich AJ, Aradhya S, Shaffer LG, Dobyns WB.

Am J Med Genet A. 2013 Aug;161A(8):1833-52. doi: 10.1002/ajmg.a.35996. Epub 2013 Jun 27.

PMID:
23813913
[PubMed - indexed for MEDLINE]
17.

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.

Wiszniewski W, Hunter JV, Hanchard NA, Willer JR, Shaw C, Tian Q, Illner A, Wang X, Cheung SW, Patel A, Campbell IM, Gelowani V, Hixson P, Ester AR, Azamian MS, Potocki L, Zapata G, Hernandez PP, Ramocki MB, Santos-Cortez RL, Wang G, York MK, Justice MJ, Chu ZD, Bader PI, Omo-Griffith L, Madduri NS, Scharer G, Crawford HP, Yanatatsaneejit P, Eifert A, Kerr J, Bacino CA, Franklin AI, Goin-Kochel RP, Simpson G, Immken L, Haque ME, Stosic M, Williams MD, Morgan TM, Pruthi S, Omary R, Boyadjiev SA, Win KK, Thida A, Hurles M, Hibberd ML, Khor CC, Van Vinh Chau N, Gallagher TE, Mutirangura A, Stankiewicz P, Beaudet AL, Maletic-Savatic M, Rosenfeld JA, Shaffer LG, Davis EE, Belmont JW, Dunstan S, Simmons CP, Bonnen PE, Leal SM, Katsanis N, Lupski JR, Lalani SR.

Am J Hum Genet. 2013 Aug 8;93(2):197-210. doi: 10.1016/j.ajhg.2013.05.027. Epub 2013 Jun 27. Erratum in: Am J Hum Genet. 2013 Aug 8;93(2):405.

PMID:
23810381
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

Mullegama SV, Rosenfeld JA, Orellana C, van Bon BW, Halbach S, Repnikova EA, Brick L, Li C, Dupuis L, Rosello M, Aradhya S, Stavropoulos DJ, Manickam K, Mitchell E, Hodge JC, Talkowski ME, Gusella JF, Keller K, Zonana J, Schwartz S, Pyatt RE, Waggoner DJ, Shaffer LG, Lin AE, de Vries BB, Mendoza-Londono R, Elsea SH.

Eur J Hum Genet. 2014 Jan;22(1):57-63. doi: 10.1038/ejhg.2013.67. Epub 2013 May 1.

PMID:
23632792
[PubMed - in process]
19.

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

Hirata H, Nanda I, van Riesen A, McMichael G, Hu H, Hambrock M, Papon MA, Fischer U, Marouillat S, Ding C, Alirol S, Bienek M, Preisler-Adams S, Grimme A, Seelow D, Webster R, Haan E, MacLennan A, Stenzel W, Yap TY, Gardner A, Nguyen LS, Shaw M, Lebrun N, Haas SA, Kress W, Haaf T, Schellenberger E, Chelly J, Viot G, Shaffer LG, Rosenfeld JA, Kramer N, Falk R, El-Khechen D, Escobar LF, Hennekam R, Wieacker P, Hübner C, Ropers HH, Gecz J, Schuelke M, Laumonnier F, Kalscheuer VM.

Am J Hum Genet. 2013 May 2;92(5):681-95. doi: 10.1016/j.ajhg.2013.03.021. Epub 2013 Apr 25.

PMID:
23623388
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly.

Rosenfeld JA, Kim KH, Angle B, Troxell R, Gorski JL, Westemeyer M, Frydman M, Senturias Y, Earl D, Torchia B, Schultz RA, Ellison JW, Tsuchiya K, Zimmerman S, Smolarek TA, Ballif BC, Shaffer LG.

Mol Syndromol. 2013 Jan;3(6):247-54. doi: 10.1159/000345578. Epub 2013 Jan 5.

PMID:
23599694
[PubMed]
Free PMC Article

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