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Uterine leiomyomata and decreased height: a common HMGA2 predisposition allele.

Hodge J.C., T Cuenco K., Huyck K.L., Somasundaram P., Panhuysen C.I., Stewart E.A., Morton C.C.

Hum. Genet. 125:257-263(2009) · Mapped (10)

A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction.

Robertson N.G., Jones S.M., Sivakumaran T.A., Giersch A.B., Jurado S.A., Call L.M., Miller C.E., Maison S.F., Liberman M.C., Morton C.C.

Hum. Mol. Genet. 17:3426-3434(2008) · Mapped (3)

Novel SSBP2-JAK2 fusion gene resulting from a t(5;9)(q14.1;p24.1) in pre-B acute lymphocytic leukemia.

Poitras J.L., Dal Cin P., Aster J.C., Deangelo D.J., Morton C.C.

Genes Chromosomes Cancer 47:884-889(2008) · Mapped (6)

Expression studies of osteoglycin/mimecan (OGN) in the cochlea and auditory phenotype of Ogn-deficient mice.

Williamson R.E., Darrow K.N., Giersch A.B., Resendes B.L., Huang M., Conrad G.W., Chen Z.Y., Liberman M.C., Morton C.C., Tasheva E.S.

Hear. Res. 237:57-65(2008) · Mapped (8)

Disruption of neurexin 1 associated with autism spectrum disorder.

Kim H.G., Kishikawa S., Higgins A.W., Seong I.S., Donovan D.J., Shen Y., Lally E., Weiss L.A., Najm J., Kutsche K. et al.

Am. J. Hum. Genet. 82:199-207(2008) · UniProtKB (1) · Mapped (8)

Is the disruption of an N-myristoyltransferase (NMT2) associated with hypoplastic testes?

Quintero-Rivera F., Leach N.T., de la Chapelle A., Gusella J.F., Morton C.C., Harris D.J.

Am. J. Med. Genet. A 143A:1796-1798(2007) · Mapped (9)

Ion channel gene expression in the inner ear.

Gabashvili I.S., Sokolowski B.H., Morton C.C., Giersch A.B.

J. Assoc. Res. Otolaryngol. 8:305-328(2007) · UniProtKB (2) · Mapped (1)

Methylthioadenosine phosphorylase (MTAP) in hearing: gene disruption by chromosomal rearrangement in a hearing impaired individual and model organism analysis.

Williamson R.E., Darrow K.N., Michaud S., Jacobs J.S., Jones M.C., Eberl D.F., Maas R.L., Liberman M.C., Morton C.C.

Am. J. Med. Genet. A 143A:1630-1639(2007) · Mapped (1)

NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.

Lu W., Quintero-Rivera F., Fan Y., Alkuraya F.S., Donovan D.J., Xi Q., Turbe-Doan A., Li Q.G., Campbell C.G., Shanske A.L. et al.

PLoS Genet. 3:e80-e80(2007) · Mapped (22)

Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice.

Leach N.T., Sun Y., Michaud S., Zheng Y., Ligon K.L., Ligon A.H., Sander T., Korf B.R., Lu W., Harris D.J. et al.

Am. J. Hum. Genet. 80:792-799(2007) · Mapped (6)

Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.

Lu W., van Eerde A.M., Fan X., Quintero-Rivera F., Kulkarni S., Ferguson H., Kim H.-G., Fan Y., Xi Q., Li Q.-G. et al.

Am. J. Hum. Genet. 80:616-632(2007) · UniProtKB (2) · Mapped (18)

SUMO1 haploinsufficiency leads to cleft lip and palate.

Alkuraya F.S., Saadi I., Lund J.J., Turbe-Doan A., Morton C.C., Maas R.L.

Science 313:1751-1751(2006) · Mapped (10)

Increased frequencies of cochlin-specific T cells in patients with autoimmune sensorineural hearing loss.

Baek M.J., Park H.M., Johnson J.M., Altuntas C.Z., Jane-Wit D., Jaini R., Solares C.A., Thomas D.M., Ball E.J., Robertson N.G. et al.

J. Immunol. 177:4203-4210(2006) · Mapped (4)

Characterization of an abundant COL9A1 transcript in the cochlea with a novel 3' UTR: Expression studies and detection of miRNA target sequence.

Sivakumaran T.A., Resendes B.L., Robertson N.G., Giersch A.B., Morton C.C.

J. Assoc. Res. Otolaryngol. 7:160-172(2006) · Mapped (4)

Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction.

Robertson N.G., Cremers C.W., Huygen P.L., Ikezono T., Krastins B., Kremer H., Kuo S.F., Liberman M.C., Merchant S.N., Miller C.E. et al.

Hum. Mol. Genet. 15:1071-1085(2006) · Mapped (3)

ELF4 is fused to ERG in a case of acute myeloid leukemia with a t(X;21)(q25-26;q22).

Moore S.D., Offor O., Ferry J.A., Amrein P.C., Morton C.C., Dal Cin P.

Leuk. Res. 30:1037-1042(2006) · Mapped (8)

Targeted disruption of mouse Coch provides functional evidence that DFNA9 hearing loss is not a COCH haploinsufficiency disorder.

Makishima T., Rodriguez C.I., Robertson N.G., Morton C.C., Stewart C.L., Griffith A.J.

Hum. Genet. 118:29-34(2005) · Mapped (3)

Proteomics reveal Cochlin deposits associated with glaucomatous trabecular meshwork.

Bhattacharya S.K., Rockwood E.J., Smith S.D., Bonilha V.L., Crabb J.S., Kuchtey R.W., Robertson N.G., Peachey N.S., Morton C.C., Crabb J.W.

J. Biol. Chem. 280:6080-6084(2005) · Mapped (4)

Isolation from cochlea of a novel human intronless gene with predominant fetal expression.

Resendes B.L., Kuo S.F., Robertson N.G., Giersch A.B., Honrubia D., Ohara O., Adams J.C., Morton C.C.

J. Assoc. Res. Otolaryngol. 5:185-202(2004) · UniProtKB (2) · Mapped (5)

Involvement of fumarate hydratase in nonsyndromic uterine leiomyomas: genetic linkage analysis and FISH studies.

Gross K.L., Panhuysen C.I., Kleinman M.S., Goldhammer H., Jones E.S., Nassery N., Stewart E.A., Morton C.C.

Genes Chromosomes Cancer 41:183-190(2004) · Mapped (2)

Mutation of perinatal myosin heavy chain associated with a Carney complex variant.

Veugelers M., Bressan M., McDermott D.A., Weremowicz S., Morton C.C., Mabry C.C., Lefaivre J.-F., Zunamon A., Destree A., Chaudron J.-M. et al.

N. Engl. J. Med. 351:460-469(2004) · UniProtKB (1) · Mapped (1)

Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation.

Iannaccone A., Breuer D.K., Wang X.F., Kuo S.F., Normando E.M., Filippova E., Baldi A., Hiriyanna S., MacDonald C.B., Baldi F. et al.

J. Med. Genet. 40:E118-E118(2003) · UniProtKB (1)

HMGA2 expression in uterine leiomyomata and myometrium: quantitative analysis and tissue culture studies.

Gross K.L., Neskey D.M., Manchanda N., Weremowicz S., Kleinman M.S., Nowak R.A., Ligon A.H., Rogalla P., Drechsler K., Bullerdiek J. et al.

Genes Chromosomes Cancer 38:68-79(2003) · Mapped (10)

Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9.

Robertson N.G., Hamaker S.A., Patriub V., Aster J.C., Morton C.C.

J. Med. Genet. 40:479-486(2003) · UniProtKB (1)

Human chromosome 7: DNA sequence and biology.

Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R. et al.

Science 300:767-772(2003) · UniProtKB (658)

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