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Results: 18

1.

Neural tube defects and atypical deletion on 22q11.2.

Leoni C, Stevenson DA, Geiersbach KB, Paxton CN, Krock BL, Mao R, Rope AF.

Am J Med Genet A. 2014 Nov;164A(11):2701-6. doi: 10.1002/ajmg.a.36701. Epub 2014 Aug 13.

PMID:
25123577
[PubMed - in process]
2.

Clinical utility of chromosomal microarray analysis of DNA from buccal cells: detection of mosaicism in three patients.

Sdano MR, Vanzo RJ, Martin MM, Baldwin EE, South ST, Rope AF, Allen WP, Kearney H.

J Genet Couns. 2014 Dec;23(6):922-7. doi: 10.1007/s10897-014-9751-2. Epub 2014 Aug 15.

PMID:
25120037
[PubMed - in process]
3.

Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.

Longoni M, Lage K, Russell MK, Loscertales M, Abdul-Rahman OA, Baynam G, Bleyl SB, Brady PD, Breckpot J, Chen CP, Devriendt K, Gillessen-Kaesbach G, Grix AW, Rope AF, Shimokawa O, Strauss B, Wieczorek D, Zackai EH, Coletti CM, Maalouf FI, Noonan KM, Park JH, Tracy AA, Lee C, Donahoe PK, Pober BR.

Am J Med Genet A. 2012 Dec;158A(12):3148-58. doi: 10.1002/ajmg.a.35665. Epub 2012 Nov 19.

PMID:
23165946
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective.

Wooderchak-Donahue WL, O'Fallon B, Furtado LV, Durtschi JD, Plant P, Ridge PG, Rope AF, Yetman AT, Bayrak-Toydemir P.

BMC Med Genomics. 2012 Nov 14;5:50. doi: 10.1186/1755-8794-5-50.

PMID:
23148498
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification.

Furtado LV, Wooderchak-Donahue W, Rope AF, Yetman AT, Lewis T, Plant P, Bayrak-Toydemir P.

BMC Med Genet. 2011 Sep 21;12:119. doi: 10.1186/1471-2350-12-119.

PMID:
21936929
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.

Rope AF, Wang K, Evjenth R, Xing J, Johnston JJ, Swensen JJ, Johnson WE, Moore B, Huff CD, Bird LM, Carey JC, Opitz JM, Stevens CA, Jiang T, Schank C, Fain HD, Robison R, Dalley B, Chin S, South ST, Pysher TJ, Jorde LB, Hakonarson H, Lillehaug JR, Biesecker LG, Yandell M, Arnesen T, Lyon GJ.

Am J Hum Genet. 2011 Jul 15;89(1):28-43. doi: 10.1016/j.ajhg.2011.05.017. Epub 2011 Jun 23. Erratum in: Am J Hum Genet. 2011 Aug 12;89(2):345.

PMID:
21700266
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation.

Furtado LV, Bayrak-Toydemir P, Hulinsky B, Damjanovich K, Carey JC, Rope AF.

Am J Med Genet A. 2010 Nov;152A(11):2838-44. doi: 10.1002/ajmg.a.33674.

PMID:
20949533
[PubMed - indexed for MEDLINE]
8.

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

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.

Hum Mutat. 2010 Oct;31(10):1142-54. doi: 10.1002/humu.21328.

PMID:
20672375
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

DiGeorge anomaly in the absence of chromosome 22q11.2 deletion.

Rope AF, Cragun DL, Saal HM, Hopkin RJ.

J Pediatr. 2009 Oct;155(4):560-5. doi: 10.1016/j.jpeds.2009.04.010.

PMID:
19595366
[PubMed - indexed for MEDLINE]
10.

Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.

Lin AE, Basson CT, Goldmuntz E, Magoulas PL, McDermott DA, McDonald-McGinn DM, McPherson E, Morris CA, Noonan J, Nowak C, Pierpont ME, Pyeritz RE, Rope AF, Zackai E, Pober BR.

Genet Med. 2008 Jul;10(7):469-94. doi: 10.1097GIM.0b013e3181772111. Review.

PMID:
18580689
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Expansion in size of a terminal deletion: a paradigm shift for parental follow-up studies.

South ST, Rope AF, Lamb AN, Aston E, Glaus N, Whitby H, Maxwell T, Zhu XL, Brothman AR.

J Med Genet. 2008 Jun;45(6):391-5. doi: 10.1136/jmg.2008.057315. Epub 2008 Apr 15.

PMID:
18413369
[PubMed - indexed for MEDLINE]
12.

Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes.

Bleyl SB, Byrne JL, South ST, Dries DC, Stevenson DA, Rope AF, Vianna-Morgante AM, Schoenwolf GC, Kivlin JD, Brothman A, Carey JC.

Am J Med Genet A. 2007 Dec 1;143A(23):2785-95.

PMID:
17994562
[PubMed - indexed for MEDLINE]
13.

Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.

Stevenson DA, Viskochil DH, Rope AF, Carey JC.

Clin Genet. 2006 Mar;69(3):246-53.

PMID:
16542390
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Genetic analyses in two extended families with deletion 22q11 syndrome: importance of extracardiac manifestations.

Shooner KA, Rope AF, Hopkin RJ, Andelfinger GU, Benson DW.

J Pediatr. 2005 Mar;146(3):382-7.

PMID:
15756225
[PubMed - indexed for MEDLINE]
15.

Dilated ascending aorta in a child with ring chromosome 21 syndrome.

Rope AF, Hinton RB, Spicer RL, Blough-Pfau R, Saal HM.

Am J Med Genet A. 2004 Oct 1;130A(2):191-5.

PMID:
15372526
[PubMed - indexed for MEDLINE]
16.

Association of anterior glottic webs with velocardiofacial syndrome (chromosome 22q11.2 deletion).

Miyamoto RC, Cotton RT, Rope AF, Hopkin RJ, Cohen AP, Shott SR, Rutter MJ.

Otolaryngol Head Neck Surg. 2004 Apr;130(4):415-7.

PMID:
15100636
[PubMed - indexed for MEDLINE]
17.

Upper airway malformation associated with partial trisomy 11q.

Zhao HQ, Rope AF, Saal HM, Blough-Pfau RI, Hopkin RJ.

Am J Med Genet A. 2003 Jul 30;120A(3):331-7.

PMID:
12838551
[PubMed - indexed for MEDLINE]
18.

Application of DNA amplification fingerprinting (DAF) to mixed culture bioreactors.

Breen A, Rope AF, Taylor D, Loper JC, Sferra PR.

J Ind Microbiol. 1995 Jan;14(1):10-6.

PMID:
7766062
[PubMed - indexed for MEDLINE]

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