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Items: 1 to 50 of 92

1.

Hand-Foot-Genital Syndrome.

Innis JW.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2006 Jul 11 [updated 2019 Aug 8].

2.

Natural history of ROHHAD syndrome: development of severe insulin resistance and fatty liver disease over time.

Jalal Eldin AW, Tombayoglu D, Butz L, Affinati A, Meral R, Ontan MS, Walkovich K, Westerhoff M, Innis JW, Parikh ND, Oral EA.

Clin Diabetes Endocrinol. 2019 Jul 9;5:9. doi: 10.1186/s40842-019-0082-y. eCollection 2019.

3.

Expanding the phenotypic spectrum of MBOAT7-related intellectual disability.

Jacher JE, Roy N, Ghaziuddin M, Innis JW.

Am J Med Genet B Neuropsychiatr Genet. 2019 Jul 8. doi: 10.1002/ajmg.b.32749. [Epub ahead of print]

PMID:
31282596
4.

Interstitial microdeletion of the 1p34.3p34.2 region.

Jacher JE, Innis JW.

Mol Genet Genomic Med. 2018 May 3. doi: 10.1002/mgg3.409. [Epub ahead of print]

5.

Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis.

Sahinoz M, Khairi S, Cuttitta A, Brady GF, Rupani A, Meral R, Tayeh MK, Thomas P, Riebschleger M, Camelo-Piragua S, Innis JW, Bishr Omary M, Michele DE, Oral EA.

Clin Diabetes Endocrinol. 2018 Mar 27;4:6. doi: 10.1186/s40842-018-0058-3. eCollection 2018.

6.

Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease.

Antonellis A, Oprescu SN, Griffin LB, Heider A, Amalfitano A, Innis JW.

Hum Mutat. 2018 Jun;39(6):834-840. doi: 10.1002/humu.23424. Epub 2018 Apr 10.

7.

A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.

Hussain I, Patni N, Ueda M, Sorkina E, Valerio CM, Cochran E, Brown RJ, Peeden J, Tikhonovich Y, Tiulpakov A, Stender SRS, Klouda E, Tayeh MK, Innis JW, Meyer A, Lal P, Godoy-Matos AF, Teles MG, Adams-Huet B, Rader DJ, Hegele RA, Oral EA, Garg A.

J Clin Endocrinol Metab. 2018 Mar 1;103(3):1005-1014. doi: 10.1210/jc.2017-02078.

8.

Spectrum of disease associated with partial lipodystrophy: lessons from a trial cohort.

Ajluni N, Meral R, Neidert AH, Brady GF, Buras E, McKenna B, DiPaola F, Chenevert TL, Horowitz JF, Buggs-Saxton C, Rupani AR, Thomas PE, Tayeh MK, Innis JW, Omary MB, Conjeevaram H, Oral EA.

Clin Endocrinol (Oxf). 2017 May;86(5):698-707. doi: 10.1111/cen.13311. Epub 2017 Mar 27.

9.

Integrative Clinical Sequencing in the Management of Refractory or Relapsed Cancer in Youth.

Mody RJ, Wu YM, Lonigro RJ, Cao X, Roychowdhury S, Vats P, Frank KM, Prensner JR, Asangani I, Palanisamy N, Dillman JR, Rabah RM, Kunju LP, Everett J, Raymond VM, Ning Y, Su F, Wang R, Stoffel EM, Innis JW, Roberts JS, Robertson PL, Yanik G, Chamdin A, Connelly JA, Choi S, Harris AC, Kitko C, Rao RJ, Levine JE, Castle VP, Hutchinson RJ, Talpaz M, Robinson DR, Chinnaiyan AM.

JAMA. 2015 Sep 1;314(9):913-25. doi: 10.1001/jama.2015.10080.

10.

Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.

Riley KN, Catalano LM, Bernat JA, Adams SD, Martin DM, Lalani SR, Patel A, Burnside RD, Innis JW, Rudd MK.

Am J Med Genet A. 2015 Nov;167A(11):2664-73. doi: 10.1002/ajmg.a.37269. Epub 2015 Jul 31.

PMID:
26227573
11.

Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay.

Tayeh MK, Rocco T, Ackley T, Ernst L, Glover T, Innis JW.

Clin Case Rep. 2015 Jun;3(6):396-401. doi: 10.1002/ccr3.241. Epub 2015 Apr 9.

12.

KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.

Gee HY, Zhang F, Ashraf S, Kohl S, Sadowski CE, Vega-Warner V, Zhou W, Lovric S, Fang H, Nettleton M, Zhu JY, Hoefele J, Weber LT, Podracka L, Boor A, Fehrenbach H, Innis JW, Washburn J, Levy S, Lifton RP, Otto EA, Han Z, Hildebrandt F.

J Clin Invest. 2015 Jun;125(6):2375-84. doi: 10.1172/JCI79504. Epub 2015 May 11.

13.

Chromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta-analysis Reveals Novel Potential Critical Regions Involved in Heart Development.

Thorsson T, Russell WW, El-Kashlan N, Soemedi R, Levine J, Geisler SB, Ackley T, Tomita-Mitchell A, Rosenfeld JA, Töpf A, Tayeh M, Goodship J, Innis JW, Keavney B, Russell MW.

Congenit Heart Dis. 2015 May-Jun;10(3):193-208. doi: 10.1111/chd.12179. Epub 2014 Apr 11.

14.

Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations.

Russell MW, Raeker MO, Geisler SB, Thomas PE, Simmons TA, Bernat JA, Thorsson T, Innis JW.

Hum Mol Genet. 2014 Aug 15;23(16):4272-84. doi: 10.1093/hmg/ddu144. Epub 2014 Apr 2.

PMID:
24694933
15.

A novel intergenic ETnII-β insertion mutation causes multiple malformations in polypodia mice.

Lehoczky JA, Thomas PE, Patrie KM, Owens KM, Villarreal LM, Galbraith K, Washburn J, Johnson CN, Gavino B, Borowsky AD, Millen KJ, Wakenight P, Law W, Van Keuren ML, Gavrilina G, Hughes ED, Saunders TL, Brihn L, Nadeau JH, Innis JW.

PLoS Genet. 2013;9(12):e1003967. doi: 10.1371/journal.pgen.1003967. Epub 2013 Dec 5.

16.

Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.

Gee HY, Otto EA, Hurd TW, Ashraf S, Chaki M, Cluckey A, Vega-Warner V, Saisawat P, Diaz KA, Fang H, Kohl S, Allen SJ, Airik R, Zhou W, Ramaswami G, Janssen S, Fu C, Innis JL, Weber S, Vester U, Davis EE, Katsanis N, Fathy HM, Jeck N, Klaus G, Nayir A, Rahim KA, Al Attrach I, Al Hassoun I, Ozturk S, Drozdz D, Helmchen U, O'Toole JF, Attanasio M, Lewis RA, Nürnberg G, Nürnberg P, Washburn J, MacDonald J, Innis JW, Levy S, Hildebrandt F.

Kidney Int. 2014 Apr;85(4):880-7. doi: 10.1038/ki.2013.450. Epub 2013 Nov 20.

17.

Human HOX gene disorders.

Quinonez SC, Innis JW.

Mol Genet Metab. 2014 Jan;111(1):4-15. doi: 10.1016/j.ymgme.2013.10.012. Epub 2013 Oct 29. Review.

18.

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.

Gee HY, Saisawat P, Ashraf S, Hurd TW, Vega-Warner V, Fang H, Beck BB, Gribouval O, Zhou W, Diaz KA, Natarajan S, Wiggins RC, Lovric S, Chernin G, Schoeb DS, Ovunc B, Frishberg Y, Soliman NA, Fathy HM, Goebel H, Hoefele J, Weber LT, Innis JW, Faul C, Han Z, Washburn J, Antignac C, Levy S, Otto EA, Hildebrandt F.

J Clin Invest. 2013 Aug;123(8):3243-53. doi: 10.1172/JCI69134. Epub 2013 Jul 8.

19.

Analysis of de novo HOXA13 polyalanine expansions supports replication slippage without repair in their generation.

Owens KM, Quinonez SC, Thomas PE, Keegan CE, Lefebvre N, Roulston D, Larsen CA, Stadler HS, Innis JW.

Am J Med Genet A. 2013 May;161A(5):1019-27. doi: 10.1002/ajmg.a.35843. Epub 2013 Mar 26.

PMID:
23532960
20.

Maternal intrachromosomal insertional translocation leads to recurrent 1q21.3q23.3 deletion in two siblings.

Quinonez SC, Hedera P, Barr M, Ackley T, Lam C, Purkayastha A, Glover TW, Innis JW.

Am J Med Genet A. 2012 Oct;158A(10):2591-601. doi: 10.1002/ajmg.a.35563. Epub 2012 Aug 17.

21.

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.

Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM, Jabs EW, Innis JW, Schuette JL, Gorski JL, Byers PH, Andelfinger G, Siu V, Lauzon J, Fernandez BA, McMillin M, Scott RH, Racher H; FORGE Canada Consortium, Majewski J, Nickerson DA, Shendure J, Bamshad MJ, Parboosingh JS.

Am J Hum Genet. 2012 May 4;90(5):925-33. doi: 10.1016/j.ajhg.2012.04.004. Epub 2012 Apr 26.

22.

Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation.

Butler MG, Dagenais SL, Garcia-Perez JL, Brouillard P, Vikkula M, Strouse P, Innis JW, Glover TW.

Am J Med Genet A. 2012 Apr;158A(4):839-49. doi: 10.1002/ajmg.a.35229. Epub 2012 Mar 9.

23.

Chromosome 4q deletion syndrome: narrowing the cardiovascular critical region to 4q32.2-q34.3.

Xu W, Ahmad A, Dagenais S, Iyer RK, Innis JW.

Am J Med Genet A. 2012 Mar;158A(3):635-40. doi: 10.1002/ajmg.a.34425. Epub 2012 Feb 2.

24.

Personalized oncology through integrative high-throughput sequencing: a pilot study.

Roychowdhury S, Iyer MK, Robinson DR, Lonigro RJ, Wu YM, Cao X, Kalyana-Sundaram S, Sam L, Balbin OA, Quist MJ, Barrette T, Everett J, Siddiqui J, Kunju LP, Navone N, Araujo JC, Troncoso P, Logothetis CJ, Innis JW, Smith DC, Lao CD, Kim SY, Roberts JS, Gruber SB, Pienta KJ, Talpaz M, Chinnaiyan AM.

Sci Transl Med. 2011 Nov 30;3(111):111ra121. doi: 10.1126/scitranslmed.3003161.

25.

Campomelic dysplasia: airway management in two patients and an update on clinical-molecular correlations in the head and neck.

Nelson ME, Griffin GR, Innis JW, Green GE.

Ann Otol Rhinol Laryngol. 2011 Oct;120(10):682-5. Review.

PMID:
22097155
26.

Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia.

Boztug K, Rosenberg PS, Dorda M, Banka S, Moulton T, Curtin J, Rezaei N, Corns J, Innis JW, Avci Z, Tran HC, Pellier I, Pierani P, Fruge R, Parvaneh N, Mamishi S, Mody R, Darbyshire P, Motwani J, Murray J, Buchanan GR, Newman WG, Alter BP, Boxer LA, Donadieu J, Welte K, Klein C.

J Pediatr. 2012 Apr;160(4):679-683.e2. doi: 10.1016/j.jpeds.2011.09.019. Epub 2011 Nov 1.

PMID:
22050868
27.

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.

Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH.

Am J Hum Genet. 2011 Oct 7;89(4):551-63. doi: 10.1016/j.ajhg.2011.09.011.

28.

Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis.

Saisawat P, Tasic V, Vega-Warner V, Kehinde EO, Günther B, Airik R, Innis JW, Hoskins BE, Hoefele J, Otto EA, Hildebrandt F.

Kidney Int. 2012 Jan;81(2):196-200. doi: 10.1038/ki.2011.315. Epub 2011 Sep 7.

29.

Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome.

Al Badr W, Al Bader S, Otto E, Hildebrandt F, Ackley T, Peng W, Xu J, Li J, Owens KM, Bloom D, Innis JW.

J Pediatr Urol. 2011 Oct;7(5):569-73. doi: 10.1016/j.jpurol.2011.02.034. Epub 2011 Mar 29.

30.

Multiple congenital anomalies and developmental delay in a boy associated with a de novo 16p13.3 deletion.

Nelson M, Quinonez S, Ackley T, Iyer RK, Innis JW.

Am J Med Genet A. 2011 Mar;155A(3):612-7. doi: 10.1002/ajmg.a.33808. Epub 2011 Feb 22.

PMID:
21344629
31.

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.

Reis LM, Tyler RC, Schilter KF, Abdul-Rahman O, Innis JW, Kozel BA, Schneider AS, Bardakjian TM, Lose EJ, Martin DM, Broeckel U, Semina EV.

Hum Genet. 2011 Oct;130(4):495-504. doi: 10.1007/s00439-011-0968-y. Epub 2011 Feb 22.

32.

A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia.

Bedoyan JK, Lesperance MM, Ackley T, Iyer RK, Innis JW, Misra VK.

Am J Med Genet A. 2011 Jan;155A(1):154-63. doi: 10.1002/ajmg.a.33751. Epub 2010 Dec 10.

33.

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.

van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJ, Mercer CL, Fichera M, Stewart H, Connell LE, Ounap K, Lachlan K, Castle B, Van der Aa N, van Ravenswaaij C, Nobrega MA, Serra-Juhé C, Simonic I, de Leeuw N, Pfundt R, Bongers EM, Baker C, Finnemore P, Huang S, Maloney VK, Crolla JA, van Kalmthout M, Elia M, Vandeweyer G, Fryns JP, Janssens S, Foulds N, Reitano S, Smith K, Parkel S, Loeys B, Woods CG, Oostra A, Speleman F, Pereira AC, Kurg A, Willatt L, Knight SJ, Vermeesch JR, Romano C, Barber JC, Mortier G, Pérez-Jurado LA, Kooy F, Brunner HG, Eichler EE, Kleefstra T, de Vries BB.

J Med Genet. 2009 Aug;46(8):511-23. doi: 10.1136/jmg.2008.063412. Epub 2009 Apr 15.

34.

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.

Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel A.

Nat Genet. 2008 Dec;40(12):1466-71. doi: 10.1038/ng.279.

35.

Expanded HOXA13 polyalanine tracts in a monotreme.

Lehoczky JA, Innis JW.

Evol Dev. 2008 Jul-Aug;10(4):433-8. doi: 10.1111/j.1525-142X.2008.00254.x.

36.
37.

Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome.

Utsch B, McCabe CD, Galbraith K, Gonzalez R, Born M, Dötsch J, Ludwig M, Reutter H, Innis JW.

Am J Med Genet A. 2007 Dec 15;143A(24):3161-8.

38.

A mouse transgene drives embryonic dorsal posterior commissure expression.

Lehoczky JA, Innis JW.

Transgenic Res. 2007 Dec;16(6):823-8. Epub 2007 Jun 5.

PMID:
17549599
39.

Description and genetic mapping of Polypodia: an X-linked dominant mouse mutant with ectopic caudal limbs and other malformations.

Lehoczky JA, Cai WW, Douglas JA, Moran JL, Beier DR, Innis JW.

Mamm Genome. 2006 Sep;17(9):903-13. Epub 2006 Sep 8.

PMID:
16964440
40.

A group 13 homeodomain is neither necessary nor sufficient for posterior prevalence in the mouse limb.

Williams ME, Lehoczky JA, Innis JW.

Dev Biol. 2006 Sep 15;297(2):493-507. Epub 2006 May 26.

41.

Craniofacial dyssynostosis in two boys with apparently normal cognitive development.

Lahidji SF, Buchman SR, Muraszko K, Innis JW, Keegan CE.

Am J Med Genet A. 2006 Jun 15;140(12):1333-6. No abstract available.

42.

A genomic approach to the identification and characterization of HOXA13 functional binding elements.

McCabe CD, Innis JW.

Nucleic Acids Res. 2005 Nov 30;33(21):6782-94. Print 2005.

43.

TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome.

McDermott DA, Bressan MC, He J, Lee JS, Aftimos S, Brueckner M, Gilbert F, Graham GE, Hannibal MC, Innis JW, Pierpont ME, Raas-Rothschild A, Shanske AL, Smith WE, Spencer RH, St John-Sutton MG, van Maldergem L, Waggoner DJ, Weber M, Basson CT.

Pediatr Res. 2005 Nov;58(5):981-6. Epub 2005 Sep 23.

PMID:
16183809
44.

Group 13 HOX proteins interact with the MH2 domain of R-Smads and modulate Smad transcriptional activation functions independent of HOX DNA-binding capability.

Williams TM, Williams ME, Heaton JH, Gelehrter TD, Innis JW.

Nucleic Acids Res. 2005 Aug 8;33(14):4475-84. Print 2005.

45.

Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins.

Misra VK, Struys EA, O'brien W, Salomons GS, Glover T, Jakobs C, Innis JW.

Mol Genet Metab. 2005 Sep-Oct;86(1-2):200-5. Epub 2005 Aug 2.

PMID:
16081310
46.
47.

Candidate downstream regulated genes of HOX group 13 transcription factors with and without monomeric DNA binding capability.

Williams TM, Williams ME, Kuick R, Misek D, McDonagh K, Hanash S, Innis JW.

Dev Biol. 2005 Mar 15;279(2):462-80.

48.

Range of HOX/TALE superclass associations and protein domain requirements for HOXA13:MEIS interaction.

Williams TM, Williams ME, Innis JW.

Dev Biol. 2005 Jan 15;277(2):457-71.

50.

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