Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 39

1.

De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations.

Probst FJ, James RA, Burrage LC, Rosenfeld JA, Bohan TP, Ward Melver CH, Magoulas P, Austin E, Franklin AI, Azamian M, Xia F, Patel A, Bi W, Bacino C, Belmont JW, Ware SM, Shaw C, Cheung SW, Lalani SR.

Orphanet J Rare Dis. 2015 Jun 14;10:75. doi: 10.1186/s13023-015-0291-0.

2.

Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite.

Dharmadhikari AV, Gambin T, Szafranski P, Cao W, Probst FJ, Jin W, Fang P, Gogolewski K, Gambin A, George-Abraham JK, Golla S, Boidein F, Duban-Bedu B, Delobel B, Andrieux J, Becker K, Holinski-Feder E, Cheung SW, Stankiewicz P.

BMC Med Genet. 2014 Dec 4;15:128. doi: 10.1186/s12881-014-0128-z.

3.

Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome.

Posey JE, Dariya V, Edmonds JL, Lee EI, Probst FJ, Premkumar MH.

Eur J Pediatr. 2014 Dec;173(12):1741-4. doi: 10.1007/s00431-014-2453-9. Epub 2014 Nov 12.

4.

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.

Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, Kang PB, Klinge L, Kolski H, Lochmüller H, Magy L, Manel V, Mayer M, Mercuri E, North KN, Peudenier-Robert S, Pihko H, Probst FJ, Reisin R, Stewart W, Taratuto AL, de Visser M, Wilichowski E, Winer J, Nowak K, Laing NG, Winder TL, Monnier N, Clarke NF, Pelin K, Grönholm M, Wallgren-Pettersson C.

Hum Mutat. 2014 Jul;35(7):779-90. doi: 10.1002/humu.22554. Epub 2014 May 1.

5.

Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.

Wangler MF, Gonzaga-Jauregui C, Gambin T, Penney S, Moss T, Chopra A, Probst FJ, Xia F, Yang Y, Werlin S, Eglite I, Kornejeva L, Bacino CA, Baldridge D, Neul J, Lehman EL, Larson A, Beuten J, Muzny DM, Jhangiani S; Baylor-Hopkins Center for Mendelian Genomics, Gibbs RA, Lupski JR, Beaudet A.

PLoS Genet. 2014 Mar 27;10(3):e1004258. doi: 10.1371/journal.pgen.1004258. eCollection 2014 Mar.

6.

A point mutation in the gene for asparagine-linked glycosylation 10B (Alg10b) causes nonsyndromic hearing impairment in mice (Mus musculus).

Probst FJ, Corrigan RR, Del Gaudio D, Salinger AP, Lorenzo I, Gao SS, Chiu I, Xia A, Oghalai JS, Justice MJ.

PLoS One. 2013 Nov 26;8(11):e80408. doi: 10.1371/journal.pone.0080408. eCollection 2013.

7.

Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis.

Peddibhotla S, Khalifa M, Probst FJ, Stein J, Harris LL, Kearney DL, Vance GH, Bull MJ, Grange DK, Scharer GH, Kang SH, Stankiewicz P, Bacino CA, Cheung SW, Patel A.

Am J Med Genet A. 2013 Dec;161A(12):2953-63. doi: 10.1002/ajmg.a.35886. Epub 2013 Oct 2.

PMID:
24123848
8.

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.

Wiszniewska J, Bi W, Shaw C, Stankiewicz P, Kang SH, Pursley AN, Lalani S, Hixson P, Gambin T, Tsai CH, Bock HG, Descartes M, Probst FJ, Scaglia F, Beaudet AL, Lupski JR, Eng C, Cheung SW, Bacino C, Patel A.

Eur J Hum Genet. 2014 Jan;22(1):79-87. doi: 10.1038/ejhg.2013.77. Epub 2013 May 22.

9.

Currents in contemporary bioethics. Identifying consanguinity through routine genomic analysis: reporting requirements.

McGuire AL, Wang MJ, Probst FJ.

J Law Med Ethics. 2012 Winter;40(4):1040-6. doi: 10.1111/j.1748-720X.2012.00731.x. No abstract available.

10.

Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events.

Bi W, Probst FJ, Wiszniewska J, Plunkett K, Roney EK, Carter BS, Williams MD, Stankiewicz P, Patel A, Stevens CA, Lupski JR, Cheung SW.

J Med Genet. 2012 Nov;49(11):681-8. doi: 10.1136/jmedgenet-2012-101002. Epub 2012 Oct 5.

PMID:
23042811
11.

Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function.

Nagamani SC, Erez A, Probst FJ, Bader P, Evans P, Baker LA, Fang P, Bertin T, Hixson P, Stankiewicz P, Nelson D, Patel A, Cheung SW.

Neurogenetics. 2012 Nov;13(4):333-9. doi: 10.1007/s10048-012-0340-y. Epub 2012 Aug 14.

PMID:
22890812
12.

Strain background influences neurotoxicity and behavioral abnormalities in mice expressing the tetracycline transactivator.

Han HJ, Allen CC, Buchovecky CM, Yetman MJ, Born HA, Marin MA, Rodgers SP, Song BJ, Lu HC, Justice MJ, Probst FJ, Jankowsky JL.

J Neurosci. 2012 Aug 1;32(31):10574-86. doi: 10.1523/JNEUROSCI.0893-12.2012.

13.

Mutation discovery in mice by whole exome sequencing.

Fairfield H, Gilbert GJ, Barter M, Corrigan RR, Curtain M, Ding Y, D'Ascenzo M, Gerhardt DJ, He C, Huang W, Richmond T, Rowe L, Probst FJ, Bergstrom DE, Murray SA, Bult C, Richardson J, Kile BT, Gut I, Hager J, Sigurdsson S, Mauceli E, Di Palma F, Lindblad-Toh K, Cunningham ML, Cox TC, Justice MJ, Spector MS, Lowe SW, Albert T, Donahue LR, Jeddeloh J, Shendure J, Reinholdt LG.

Genome Biol. 2011 Sep 14;12(9):R86. doi: 10.1186/gb-2011-12-9-r86.

14.

Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q.

Breman AM, Probst FJ, Blazo MA, Schaaf CP, Roney EK, Craigen WJ, Bacino CA, Cheung SW.

Am J Med Genet A. 2011 Jun;155A(6):1465-8. doi: 10.1002/ajmg.a.33935. Epub 2011 May 12. No abstract available.

15.

Detection of clinically relevant exonic copy-number changes by array CGH.

Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y, Wiszniewska J, Nowakowska BA, del Gaudio D, Xia Z, Simpson-Patel G, Immken LL, Gibson JB, Tsai AC, Bowers JA, Reimschisel TE, Schaaf CP, Potocki L, Scaglia F, Gambin T, Sykulski M, Bartnik M, Derwinska K, Wisniowiecka-Kowalnik B, Lalani SR, Probst FJ, Bi W, Beaudet AL, Patel A, Lupski JR, Cheung SW, Stankiewicz P.

Hum Mutat. 2010 Dec;31(12):1326-42. doi: 10.1002/humu.21360. Epub 2010 Nov 2.

16.

Mouse mutagenesis with the chemical supermutagen ENU.

Probst FJ, Justice MJ.

Methods Enzymol. 2010;477:297-312. doi: 10.1016/S0076-6879(10)77015-4.

17.

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

Szafranski P, Schaaf CP, Person RE, Gibson IB, Xia Z, Mahadevan S, Wiszniewska J, Bacino CA, Lalani S, Potocki L, Kang SH, Patel A, Cheung SW, Probst FJ, Graham BH, Shinawi M, Beaudet AL, Stankiewicz P.

Hum Mutat. 2010 Jul;31(7):840-50. doi: 10.1002/humu.21284.

18.

Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin.

Boles MK, Wilkinson BM, Wilming LG, Liu B, Probst FJ, Harrow J, Grafham D, Hentges KE, Woodward LP, Maxwell A, Mitchell K, Risley MD, Johnson R, Hirschi K, Lupski JR, Funato Y, Miki H, Marin-Garcia P, Matthews L, Coffey AJ, Parker A, Hubbard TJ, Rogers J, Bradley A, Adams DJ, Justice MJ.

PLoS Genet. 2009 Dec;5(12):e1000759. doi: 10.1371/journal.pgen.1000759. Epub 2009 Dec 11.

19.

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.

Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR.

J Med Genet. 2010 May;47(5):332-41. doi: 10.1136/jmg.2009.073015. Epub 2009 Nov 12.

20.

Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.

Nagamani SC, Zhang F, Shchelochkov OA, Bi W, Ou Z, Scaglia F, Probst FJ, Shinawi M, Eng C, Hunter JV, Sparagana S, Lagoe E, Fong CT, Pearson M, Doco-Fenzy M, Landais E, Mozelle M, Chinault AC, Patel A, Bacino CA, Sahoo T, Kang SH, Cheung SW, Lupski JR, Stankiewicz P.

J Med Genet. 2009 Dec;46(12):825-33. doi: 10.1136/jmg.2009.067637. Epub 2009 Jul 6.

PMID:
19584063
21.

Index of suspicion.

Fanella S, Embree J, Arora B, Goel S, Probst FJ, Patel A, Beaudet AL.

Pediatr Rev. 2008 Aug;29(8):281-7. doi: 10.1542/pir.29-8-281. No abstract available. Erratum in: Pediatr Rev. 2009 Jan;30(1):21. Goel, Sauraby [corrected to Goel, Saurabh].

PMID:
18676580
22.

Genotype, phenotype, and karyotype correlation in the XO mouse model of Turner Syndrome.

Probst FJ, Cooper ML, Cheung SW, Justice MJ.

J Hered. 2008 Sep-Oct;99(5):512-7. doi: 10.1093/jhered/esn027. Epub 2008 May 21.

23.

Dietary thyroid hormone replacement ameliorates hearing deficits in hypothyroid mice.

Karolyi IJ, Dootz GA, Halsey K, Beyer L, Probst FJ, Johnson KR, Parlow AF, Raphael Y, Dolan DF, Camper SA.

Mamm Genome. 2007 Aug;18(8):596-608. Epub 2007 Sep 22.

PMID:
17899304
24.

Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation.

Probst FJ, Roeder ER, Enciso VB, Ou Z, Cooper ML, Eng P, Li J, Gu Y, Stratton RF, Chinault AC, Shaw CA, Sutton VR, Cheung SW, Nelson DL.

Am J Med Genet A. 2007 Jun 15;143A(12):1358-65.

PMID:
17506108
25.

Transgene correction maintains normal cochlear structure and function in 6-month-old Myo15a mutant mice.

Kanzaki S, Beyer L, Karolyi IJ, Dolan DF, Fang Q, Probst FJ, Camper SA, Raphael Y.

Hear Res. 2006 Apr;214(1-2):37-44. Epub 2006 Apr 3.

PMID:
16580798
26.

Skewed X-inactivation in carriers establishes linkage in an X-linked deafness-mental retardation syndrome.

Probst FJ, Hedera P, Sclafani AM, Pomponi MG, Neri G, Tyson J, Douglas JA, Petty EM, Martin DM.

Am J Med Genet A. 2004 Dec 1;131(2):209-12. No abstract available. Erratum in: Am J Med Genet A. 2005 Apr 30;134(3):347.

PMID:
15389700
27.

Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereocilia.

Karolyi IJ, Probst FJ, Beyer L, Odeh H, Dootz G, Cha KB, Martin DM, Avraham KB, Kohrman D, Dolan DF, Raphael Y, Camper SA.

Hum Mol Genet. 2003 Nov 1;12(21):2797-805. Epub 2003 Sep 9.

PMID:
12966030
28.

Exclusion of PITX2 mutations as a major cause of CHARGE association.

Martin DM, Probst FJ, Fox SE, Schimmenti LA, Semina EV, Hefner MA, Belmont JW, Camper SA.

Am J Med Genet. 2002 Jul 22;111(1):27-30.

29.

Evidence for coupling of membrane targeting and function of the signal recognition particle (SRP) receptor FtsY.

Herskovits AA, Seluanov A, Rajsbaum R, ten Hagen-Jongman CM, Henrichs T, Bochkareva ES, Phillips GJ, Probst FJ, Nakae T, Ehrmann M, Luirink J, Bibi E.

EMBO Rep. 2001 Nov;2(11):1040-6.

30.

Hair cells in the inner ear of the pirouette and shaker 2 mutant mice.

Beyer LA, Odeh H, Probst FJ, Lambert EH, Dolan DF, Camper SA, Kohrman DC, Raphael Y.

J Neurocytol. 2000 Apr;29(4):227-40.

31.

Characterisation and genetic mapping of a new X linked deafness syndrome.

Martin DM, Probst FJ, Camper SA, Petty EM.

J Med Genet. 2000 Nov;37(11):836-41.

32.

The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells.

Anderson DW, Probst FJ, Belyantseva IA, Fridell RA, Beyer L, Martin DM, Wu D, Kachar B, Friedman TB, Raphael Y, Camper SA.

Hum Mol Genet. 2000 Jul 22;9(12):1729-38.

PMID:
10915760
33.

Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2.

Liang Y, Wang A, Belyantseva IA, Anderson DW, Probst FJ, Barber TD, Miller W, Touchman JW, Jin L, Sullivan SL, Sellers JR, Camper SA, Lloyd RV, Kachar B, Friedman TB, Fridell RA.

Genomics. 1999 Nov 1;61(3):243-58.

PMID:
10552926
34.

The role of mouse mutants in the identification of human hereditary hearing loss genes.

Probst FJ, Camper SA.

Hear Res. 1999 Apr;130(1-2):1-6. Review.

PMID:
10320095
35.

A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2).

Probst FJ, Chen KS, Zhao Q, Wang A, Friedman TB, Lupski JR, Camper SA.

Genomics. 1999 Feb 1;55(3):348-52.

PMID:
10049592
36.

Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.

Wang A, Liang Y, Fridell RA, Probst FJ, Wilcox ER, Touchman JW, Morton CC, Morell RJ, Noben-Trauth K, Camper SA, Friedman TB.

Science. 1998 May 29;280(5368):1447-51.

37.

Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene.

Probst FJ, Fridell RA, Raphael Y, Saunders TL, Wang A, Liang Y, Morell RJ, Touchman JW, Lyons RH, Noben-Trauth K, Friedman TB, Camper SA.

Science. 1998 May 29;280(5368):1444-7.

38.

Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2.

Liang Y, Wang A, Probst FJ, Arhya IN, Barber TD, Chen KS, Deshmukh D, Dolan DF, Hinnant JT, Carter LE, Jain PK, Lalwani AK, Li XC, Lupski JR, Moeljopawiro S, Morell R, Negrini C, Wilcox ER, Winata S, Camper SA, Friedman TB.

Am J Hum Genet. 1998 Apr;62(4):904-15.

39.

Construction of a 3-Mb contig and partial transcript map of the central region of mouse chromosome 11.

Watkins-Chow DE, Douglas KR, Buckwalter MS, Probst FJ, Camper SA.

Genomics. 1997 Oct 1;45(1):147-57.

PMID:
9339371

Supplemental Content

Loading ...
Support Center