Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 50

1.

Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites.

Bruels CC, Li C, Mendoza T, Khan J, Reddy HM, Estrella EA, Ghosh PS, Darras BT, Lidov HGW, Pacak CA, Kunkel LM, Modave F, Draper I, Kang PB.

Mol Genet Genomic Med. 2019 Mar;7(3):e552. doi: 10.1002/mgg3.552. Epub 2019 Jan 28.

2.

Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.

Saha M, Reddy HM, Salih MA, Estrella E, Jones MD, Mitsuhashi S, Cho KA, Suzuki-Hatano S, Rizzo SA, Hamad MH, Mukhtar MM, Hamed AA, Elseed MA, Lek M, Valkanas E, MacArthur DG, Kunkel LM, Pacak CA, Draper I, Kang PB.

Physiol Genomics. 2018 Nov 1;50(11):929-939. doi: 10.1152/physiolgenomics.00036.2018. Epub 2018 Aug 31.

PMID:
30345904
3.

Report on the 11th Asian Pacific Federation of Societies for Surgery of the Hand (APFSSH).

Estrella EP, Orillaza NS Jr.

J Hand Surg Asian Pac Vol. 2018 Jun;23(2):306-312. doi: 10.1142/S2424835518400015. No abstract available.

PMID:
29734914
4.

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A; Genotype-Tissue Expression Consortium, Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG.

Sci Transl Med. 2017 Apr 19;9(386). pii: eaal5209. doi: 10.1126/scitranslmed.aal5209.

5.

A Comparison of Vascularized Free Fibular Flaps and Nonvascularized Fibular Grafts for Reconstruction of Long Bone Defects after Tumor Resection.

Estrella EP, Wang EH.

J Reconstr Microsurg. 2017 Mar;33(3):194-205. doi: 10.1055/s-0036-1594299. Epub 2016 Dec 15.

PMID:
27978582
6.

Functioning free muscle transfer for the restoration of elbow flexion in brachial plexus injury patients.

Estrella EP, Montales TD.

Injury. 2016 Nov;47(11):2525-2533. doi: 10.1016/j.injury.2016.08.011. Epub 2016 Aug 24.

PMID:
27594169
7.

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.

Reddy HM, Cho KA, Lek M, Estrella E, Valkanas E, Jones MD, Mitsuhashi S, Darras BT, Amato AA, Lidov HG, Brownstein CA, Margulies DM, Yu TW, Salih MA, Kunkel LM, MacArthur DG, Kang PB.

J Hum Genet. 2017 Feb;62(2):243-252. doi: 10.1038/jhg.2016.116. Epub 2016 Oct 6.

8.

CD82 Is a Marker for Prospective Isolation of Human Muscle Satellite Cells and Is Linked to Muscular Dystrophies.

Alexander MS, Rozkalne A, Colletta A, Spinazzola JM, Johnson S, Rahimov F, Meng H, Lawlor MW, Estrella E, Kunkel LM, Gussoni E.

Cell Stem Cell. 2016 Dec 1;19(6):800-807. doi: 10.1016/j.stem.2016.08.006. Epub 2016 Sep 15.

9.

Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.

Reddy HM, Hamed SA, Lek M, Mitsuhashi S, Estrella E, Jones MD, Mahoney LJ, Duncan AR, Cho KA, Macarthur DG, Kunkel LM, Kang PB.

Muscle Nerve. 2016 Oct;54(4):690-5. doi: 10.1002/mus.25094. Epub 2016 Aug 24.

10.

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.

White J, Mazzeu JF, Hoischen A, Jhangiani SN, Gambin T, Alcino MC, Penney S, Saraiva JM, Hove H, Skovby F, Kayserili H, Estrella E, Vulto-van Silfhout AT, Steehouwer M, Muzny DM, Sutton VR, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics, Lupski JR, Brunner HG, van Bon BW, Carvalho CM.

Am J Hum Genet. 2015 Apr 2;96(4):612-22. doi: 10.1016/j.ajhg.2015.02.015. Epub 2015 Mar 26.

11.

"Is it going to hurt?": the impact of the diagnostic odyssey on children and their families.

Carmichael N, Tsipis J, Windmueller G, Mandel L, Estrella E.

J Genet Couns. 2015 Apr;24(2):325-35. doi: 10.1007/s10897-014-9773-9. Epub 2014 Oct 4.

PMID:
25277096
12.

MicroRNA-486-dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy-associated symptoms.

Alexander MS, Casar JC, Motohashi N, Vieira NM, Eisenberg I, Marshall JL, Gasperini MJ, Lek A, Myers JA, Estrella EA, Kang PB, Shapiro F, Rahimov F, Kawahara G, Widrick JJ, Kunkel LM.

J Clin Invest. 2014 Jun;124(6):2651-67. doi: 10.1172/JCI73579. Epub 2014 May 1.

13.

Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.

Mitsuhashi S, Boyden SE, Estrella EA, Jones TI, Rahimov F, Yu TW, Darras BT, Amato AA, Folkerth RD, Jones PL, Kunkel LM, Kang PB.

Neuromuscul Disord. 2013 Dec;23(12):975-80. doi: 10.1016/j.nmd.2013.08.009. Epub 2013 Aug 31.

14.

Nerve transfers for shoulder function for traumatic brachial plexus injuries.

Estrella EP, Favila AS Jr.

J Reconstr Microsurg. 2014 Jan;30(1):59-64. doi: 10.1055/s-0033-1354737. Epub 2013 Sep 9.

PMID:
24019176
15.

MicroRNA-199a is induced in dystrophic muscle and affects WNT signaling, cell proliferation, and myogenic differentiation.

Alexander MS, Kawahara G, Motohashi N, Casar JC, Eisenberg I, Myers JA, Gasperini MJ, Estrella EA, Kho AT, Mitsuhashi S, Shapiro F, Kang PB, Kunkel LM.

Cell Death Differ. 2013 Sep;20(9):1194-208. doi: 10.1038/cdd.2013.62. Epub 2013 Jun 14.

16.

Doxycycline suppresses Chlamydia pneumoniae-mediated increases in ongoing immunoglobulin E and interleukin-4 responses by peripheral blood mononuclear cells of patients with allergic asthma.

Dzhindzhikhashvili MS, Joks R, Smith-Norowitz T, Durkin HG, Chotikanatis K, Estrella E, Hammerschlag MR, Kohlhoff SA.

J Antimicrob Chemother. 2013 Oct;68(10):2363-8. doi: 10.1093/jac/dkt179. Epub 2013 Jun 7.

PMID:
23749949
17.

The centers for medicare & medicaid services diabetes health disparities reduction program.

King T, Fleck SB, Estrella E, Reitz SM.

Fam Community Health. 2013 Apr-Jun;36(2):119-24. doi: 10.1097/FCH.0b013e3182834740.

PMID:
23455682
18.

Multiple cutaneous reticulohistiocytomas along the lines of Blaschko associated with lichen striatus.

Dos Santos BS, Guedes Vilar EA, Freitas PM, Barbosa Durães SM, Estrella E.

Indian J Dermatol Venereol Leprol. 2013 Mar-Apr;79(2):251-2. doi: 10.4103/0378-6323.107654. No abstract available.

19.

Distal radius fractures: does a radiologically acceptable reduction really change the result?

Ranjeet N, Estrella EP.

J Clin Diagn Res. 2012 Oct;6(8):1388-92. doi: 10.7860/JCDR/2012/4567.2366.

20.

Double nerve transfer for elbow flexion in obstetric brachial plexus injury: a case report.

Estrella EP, Mella PM.

J Plast Reconstr Aesthet Surg. 2013 Mar;66(3):423-6. doi: 10.1016/j.bjps.2012.06.012. Epub 2012 Aug 4.

PMID:
22867983
21.

Understanding the mechanisms of chilling injury in bell pepper fruits using the proteomic approach.

Sánchez-Bel P, Egea I, Sánchez-Ballesta MT, Martinez-Madrid C, Fernandez-Garcia N, Romojaro F, Olmos E, Estrella E, Bolarín MC, Flores FB.

J Proteomics. 2012 Sep 18;75(17):5463-78. doi: 10.1016/j.jprot.2012.06.029. Epub 2012 Jul 13.

PMID:
22796354
23.

Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.

Boyden SE, Mahoney LJ, Kawahara G, Myers JA, Mitsuhashi S, Estrella EA, Duncan AR, Dey F, DeChene ET, Blasko-Goehringer JM, Bönnemann CG, Darras BT, Mendell JR, Lidov HG, Nishino I, Beggs AH, Kunkel LM, Kang PB.

Neurogenetics. 2012 May;13(2):115-24. doi: 10.1007/s10048-012-0315-z. Epub 2012 Feb 28.

24.

The "local dorsal adipofascial flap" for volar digital defects: a case report.

Estrella EP, Padua RA.

Hand Surg. 2011;16(3):379-81.

PMID:
22072480
25.

Regulation of DMD pathology by an ankyrin-encoded miRNA.

Alexander MS, Casar JC, Motohashi N, Myers JA, Eisenberg I, Gonzalez RT, Estrella EA, Kang PB, Kawahara G, Kunkel LM.

Skelet Muscle. 2011 Aug 8;1:27. doi: 10.1186/2044-5040-1-27.

26.

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.

Boyden SE, Duncan AR, Estrella EA, Lidov HG, Mahoney LJ, Katz JS, Kunkel LM, Kang PB.

BMC Med Genet. 2011 Jun 28;12:87. doi: 10.1186/1471-2350-12-87.

27.

Functional outcome of nerve transfers for upper-type brachial plexus injuries.

Estrella EP.

J Plast Reconstr Aesthet Surg. 2011 Aug;64(8):1007-13. doi: 10.1016/j.bjps.2011.02.002. Epub 2011 Mar 4.

PMID:
21377436
28.

Efficient identification of novel mutations in patients with limb girdle muscular dystrophy.

Boyden SE, Salih MA, Duncan AR, White AJ, Estrella EA, Burgess SL, Seidahmed MZ, Al-Jarallah AS, Alkhalidi HM, Al-Maneea WM, Bennett RR, Alshemmari SH, Kunkel LM, Kang PB.

Neurogenetics. 2010 Oct;11(4):449-55. doi: 10.1007/s10048-010-0250-9. Epub 2010 Jul 13.

29.

Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy.

Kang PB, Lidov HG, White AJ, Mitchell M, Balasubramanian A, Estrella E, Bennett RR, Darras BT, Shapiro FD, Bambach BJ, Kurtzberg J, Gussoni E, Kunkel LM.

Muscle Nerve. 2010 Jun;41(6):746-50. doi: 10.1002/mus.21702.

30.
31.

Familial dilated cardiomyopathy secondary to dystrophin splice site mutation.

Obler D, Wu BL, Lip V, Estrella E, Keck S, Haggan C, Semigran M, Smoot LB.

J Card Fail. 2010 Mar;16(3):194-9. doi: 10.1016/j.cardfail.2009.11.009.

PMID:
20206892
32.

Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes.

Bennett RR, Schneider HE, Estrella E, Burgess S, Cheng AS, Barrett C, Lip V, Lai PS, Shen Y, Wu BL, Darras BT, Beggs AH, Kunkel LM.

BMC Genet. 2009 Oct 18;10:66. doi: 10.1186/1471-2156-10-66.

33.

Congenital myasthenic syndrome with episodic apnea.

Mallory LA, Shaw JG, Burgess SL, Estrella E, Nurko S, Burpee TM, Agus MS, Darras BT, Kunkel LM, Kang PB.

Pediatr Neurol. 2009 Jul;41(1):42-5. doi: 10.1016/j.pediatrneurol.2009.02.017.

34.

An infrared forehead thermometer for flap monitoring.

Estrella EP.

J Plast Reconstr Aesthet Surg. 2009 Jun;62(6):736. doi: 10.1016/j.bjps.2009.03.002. Epub 2009 Mar 31. No abstract available.

PMID:
19345653
35.
36.

Evaluation of C5 nerve root repairability in traumatic brachial plexus injuries: proposal of an evaluation scoring system.

Addosooki A, Doi K, Hattori Y, Moriya A, Estrella E.

J Reconstr Microsurg. 2008 Jan;24(1):3-10. doi: 10.1055/s-2007-1022693. Epub 2008 Jan 11.

PMID:
18189214
37.

Aneurysm of the superficial palmar arch: a case report.

Estrella EP, Lee EY.

Hand Surg. 2008;13(3):179-82.

PMID:
19378363
38.

LGMD2I in a North American population.

Kang PB, Feener CA, Estrella E, Thorne M, White AJ, Darras BT, Amato AA, Kunkel LM.

BMC Musculoskelet Disord. 2007 Nov 24;8:115.

39.

Arthroscopic repair of triangular fibrocartilage complex tears.

Estrella EP, Hung LK, Ho PC, Tse WL.

Arthroscopy. 2007 Jul;23(7):729-37, 737.e1.

PMID:
17637408
41.

Evaluation of quality of life in brachial plexus injury patients after reconstructive surgery.

Kitajima I, Doi K, Hattori Y, Takka S, Estrella E.

Hand Surg. 2006;11(3):103-7.

PMID:
17405192
42.
43.

Recurrent third-trimester fetal loss and maternal mosaicism for long-QT syndrome.

Miller TE, Estrella E, Myerburg RJ, Garcia de Viera J, Moreno N, Rusconi P, Ahearn ME, Baumbach L, Kurlansky P, Wolff G, Bishopric NH.

Circulation. 2004 Jun 22;109(24):3029-34. Epub 2004 Jun 7. Review.

PMID:
15184283
44.

Obturator nerve injury associated with femur fracture fixation detected during gracilis muscle harvesting for functioning free muscle transfer.

Hattori Y, Doi K, Saeki Y, Estrella EP, Ikeda K.

J Reconstr Microsurg. 2004 Jan;20(1):21-3.

PMID:
14973771
45.

Prader-Willi syndrome associated with fetal goiter: a case report.

Insoft RM, Hurvitz J, Estrella E, Krishnamoorthy KS.

Am J Perinatol. 1999;16(1):29-31.

PMID:
10362079
46.

A study of the association between epistaxis and the severity of hypertension.

Lubianca-Neto JF, Bredemeier M, Carvalhal EF, Arruda CA, Estrella E, Pletsch A, Gus M, Lu L, Fuchs FD.

Am J Rhinol. 1998 Jul-Aug;12(4):269-72.

PMID:
9740920
47.

Effects on school children of prophylaxis of mothers with iodized oil in an area of iodine deficiency.

Fierro-Benitez R, Cazar R, Stanbury JB, Rodriguez P, Garces F, Fierro-Renoy F, Estrella E.

J Endocrinol Invest. 1988 May;11(5):327-35.

PMID:
2846675
48.

[Contribution to the study of the work on quinine by José Pavón].

Estrella E.

Asclepio. 1988;39:27-52. Spanish. No abstract available.

PMID:
11637589
49.

The results of prophylaxis of endemic cretinism with iodized oil in rural Andean Ecuador.

Ramírez I, Fierro-Benítez R, Estrella E, Gómez A, Jaramillo C, Hermida C, Moncayo F.

Adv Exp Med Biol. 1972;30:223-37. No abstract available.

PMID:
4354737
50.

Endemic goiter with hypothyroidism in three generations.

Stanbury JB, Fierro-Benitez R, Estrella E, Milutinovic PS, Tellez MU, Refetoff S.

J Clin Endocrinol Metab. 1969 Dec;29(12):1596-600. No abstract available.

PMID:
5347689

Supplemental Content

Loading ...
Support Center