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Results: 1 to 20 of 56

1.

Sebelipase alfa over 52weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency.

Valayannopoulos V, Malinova V, Honzík T, Balwani M, Breen C, Deegan PB, Enns GM, Jones SA, Kane JP, Stock EO, Tripuraneni R, Eckert S, Schneider E, Hamilton G, Middleton MS, Sirlin C, Kessler B, Bourdon C, Boyadjiev SA, Sharma R, Twelves C, Whitley CB, Quinn AG.

J Hepatol. 2014 Jun 30. pii: S0168-8278(14)00452-8. doi: 10.1016/j.jhep.2014.06.022. [Epub ahead of print]

PMID:
24993530
[PubMed - as supplied by publisher]
Free Article
2.

Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.

Reutter H, Draaken M, Pennimpede T, Wittler L, Brockschmidt FF, Ebert AK, Bartels E, Rösch W, Boemers TM, Hirsch K, Schmiedeke E, Meesters C, Becker T, Stein R, Utsch B, Mangold E, Nordenskjöld A, Barker G, Kockum CC, Zwink N, Holmdahl G, Läckgren G, Jenetzky E, Feitz WF, Marcelis C, Wijers CH, Van Rooij IA, Gearhart JP, Herrmann BG, Ludwig M, Boyadjiev SA, Nöthen MM, Mattheisen M.

Hum Mol Genet. 2014 May 22. pii: ddu259. [Epub ahead of print]

PMID:
24852367
[PubMed - as supplied by publisher]
3.

Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region.

Draaken M, Baudisch F, Timmermann B, Kuhl H, Kerick M, Proske J, Wittler L, Pennimpede T, Ebert AK, Rösch W, Stein R, Bartels E, von Lowtzow C, Boemers TM, Herms S, Gearhart JP, Lakshmanan Y, Kockum CC, Holmdahl G, Läckgren G, Nordenskjöld A, Boyadjiev SA, Herrmann BG, Nöthen MM, Ludwig M, Reutter H.

Birth Defects Res A Clin Mol Teratol. 2014 Jun;100(6):512-7. doi: 10.1002/bdra.23249. Epub 2014 Apr 25.

PMID:
24764164
[PubMed - in process]
4.

Quantification of facial skeletal shape variation in fibroblast growth factor receptor-related craniosynostosis syndromes.

Heuzé Y, Martínez-Abadías N, Stella JM, Arnaud E, Collet C, García Fructuoso G, Alamar M, Lo LJ, Boyadjiev SA, Di Rocco F, Richtsmeier JT.

Birth Defects Res A Clin Mol Teratol. 2014 Apr;100(4):250-9. doi: 10.1002/bdra.23228. Epub 2014 Feb 27.

PMID:
24578066
[PubMed - in process]
Free PMC Article
5.

Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.

Weaver KN, El Hallek M, Hopkin RJ, Sund KL, Henrickson M, Del Gaudio D, Yuksel A, Acar GO, Bober MB, Kim J, Boyadjiev SA.

Am J Med Genet A. 2014 Apr;164A(4):1062-8. doi: 10.1002/ajmg.a.36390. Epub 2014 Jan 23.

PMID:
24458983
[PubMed - in process]
6.

Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis.

Greenwood J, Flodman P, Osann K, Boyadjiev SA, Kimonis V.

Genet Med. 2014 Apr;16(4):302-10. doi: 10.1038/gim.2013.134. Epub 2013 Sep 26.

PMID:
24071792
[PubMed - in process]
Free PMC Article
7.

Candidate gene association study implicates p63 in the etiology of nonsyndromic bladder-exstrophy-epispadias complex.

Qi L, Wang M, Yagnik G, Mattheisen M, Gearhart JP, Lakshmanan Y, Ebert AK, Rösch W, Ludwig M, Draaken M, Reutter H, Boyadjiev SA.

Birth Defects Res A Clin Mol Teratol. 2013 Dec;97(12):759-63. doi: 10.1002/bdra.23161. Epub 2013 Aug 2.

PMID:
23913486
[PubMed - indexed for MEDLINE]
8.

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
9.

MAPK/ERK Signaling Pathway Analysis in Primary Osteoblasts From Patients With Nonsyndromic Sagittal Craniosynostosis.

Kim SD, Yagnik G, Cunningham ML, Kim J, Boyadjiev SA.

Cleft Palate Craniofac J. 2014 Jan;51(1):115-9. doi: 10.1597/12-136. Epub 2013 Apr 8.

PMID:
23566293
[PubMed - in process]
Free PMC Article
10.

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.

Justice CM, Yagnik G, Kim Y, Peter I, Jabs EW, Erazo M, Ye X, Ainehsazan E, Shi L, Cunningham ML, Kimonis V, Roscioli T, Wall SA, Wilkie AO, Stoler J, Richtsmeier JT, Heuzé Y, Sanchez-Lara PA, Buckley MF, Druschel CM, Mills JL, Caggana M, Romitti PA, Kay DM, Senders C, Taub PJ, Klein OD, Boggan J, Zwienenberg-Lee M, Naydenov C, Kim J, Wilson AF, Boyadjiev SA.

Nat Genet. 2012 Dec;44(12):1360-4. doi: 10.1038/ng.2463. Epub 2012 Nov 18.

PMID:
23160099
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

ALX4 gain-of-function mutations in nonsyndromic craniosynostosis.

Yagnik G, Ghuman A, Kim S, Stevens CG, Kimonis V, Stoler J, Sanchez-Lara PA, Bernstein JA, Naydenov C, Drissi H, Cunningham ML, Kim J, Boyadjiev SA.

Hum Mutat. 2012 Dec;33(12):1626-9. doi: 10.1002/humu.22166. Epub 2012 Aug 13.

PMID:
22829454
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1.

Kim SD, Liu JL, Roscioli T, Buckley MF, Yagnik G, Boyadjiev SA, Kim J.

FEBS Lett. 2012 May 21;586(10):1516-21. doi: 10.1016/j.febslet.2012.04.010. Epub 2012 Apr 20.

PMID:
22673519
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

OTX2 mutations contribute to the otocephaly-dysgnathia complex.

Chassaing N, Sorrentino S, Davis EE, Martin-Coignard D, Iacovelli A, Paznekas W, Webb BD, Faye-Petersen O, Encha-Razavi F, Lequeux L, Vigouroux A, Yesilyurt A, Boyadjiev SA, Kayserili H, Loget P, Carles D, Sergi C, Puvabanditsin S, Chen CP, Etchevers HC, Katsanis N, Mercer CL, Calvas P, Jabs EW.

J Med Genet. 2012 Jun;49(6):373-9. doi: 10.1136/jmedgenet-2012-100892. Epub 2012 May 10.

PMID:
22577225
[PubMed - indexed for MEDLINE]
14.

Unilateral and bilateral expression of a quantitative trait: asymmetry and symmetry in coronal craniosynostosis.

Heuzé Y, Martínez-Abadías N, Stella JM, Senders CW, Boyadjiev SA, Lo LJ, Richtsmeier JT.

J Exp Zool B Mol Dev Evol. 2012 Mar;318(2):109-22. doi: 10.1002/jezb.21449.

PMID:
22532473
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

The [corrected] SEC23-SEC31 [corrected] interface plays critical role for export of procollagen from the endoplasmic reticulum.

Kim SD, Pahuja KB, Ravazzola M, Yoon J, Boyadjiev SA, Hammamoto S, Schekman R, Orci L, Kim J.

J Biol Chem. 2012 Mar 23;287(13):10134-44. doi: 10.1074/jbc.M111.283382. Epub 2012 Feb 1. Erratum in: J Biol Chem. 2012 Sep 21;287(39):32860.

PMID:
22298774
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Clinical and genetic characterization of frontorhiny: report of 3 novel cases and discussion of the surgical management.

Pham NS, Rafii A, Liu J, Boyadjiev SA, Tollefson TT.

Arch Facial Plast Surg. 2011 Nov-Dec;13(6):415-20. doi: 10.1001/archfacial.2011.684.

PMID:
22106187
[PubMed - indexed for MEDLINE]
17.

Differential growth factor adsorption to calvarial osteoblast-secreted extracellular matrices instructs osteoblastic behavior.

Bhat A, Boyadjiev SA, Senders CW, Leach JK.

PLoS One. 2011;6(10):e25990. doi: 10.1371/journal.pone.0025990. Epub 2011 Oct 5.

PMID:
21998741
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.

Vissers LE, Cox TC, Maga AM, Short KM, Wiradjaja F, Janssen IM, Jehee F, Bertola D, Liu J, Yagnik G, Sekiguchi K, Kiyozumi D, van Bokhoven H, Marcelis C, Cunningham ML, Anderson PJ, Boyadjiev SA, Passos-Bueno MR, Veltman JA, Smyth I, Buckley MF, Roscioli T.

PLoS Genet. 2011 Sep;7(9):e1002278. doi: 10.1371/journal.pgen.1002278. Epub 2011 Sep 8.

PMID:
21931569
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe.

Reutter H, Boyadjiev SA, Gambhir L, Ebert AK, Rösch WH, Stein R, Schröder A, Boemers TM, Bartels E, Vogt H, Utsch B, Müller M, Detlefsen B, Zwink N, Rogenhofer S, Gobet R, Beckers GM, Bökenkamp A, Kajbafzadeh AM, Jaureguizar E, Draaken M, Lakshmanan Y, Gearhart JP, Ludwig M, Nöthen MM, Jenetzky E.

J Pediatr. 2011 Nov;159(5):825-831.e1. doi: 10.1016/j.jpeds.2011.04.042. Epub 2011 Jun 16.

PMID:
21679965
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Genome-wide expression profiling of urinary bladder implicates desmosomal and cytoskeletal dysregulation in the bladder exstrophy-epispadias complex.

Qi L, Chen K, Hur DJ, Yagnik G, Lakshmanan Y, Kotch LE, Ashrafi GH, Martinez-Murillo F, Kowalski J, Naydenov C, Wittler L, Gearhart JP, Draaken M, Reutter H, Ludwig M, Boyadjiev SA.

Int J Mol Med. 2011 Jun;27(6):755-65. doi: 10.3892/ijmm.2011.654. Epub 2011 Mar 22.

PMID:
21431277
[PubMed - indexed for MEDLINE]

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