Works matching AU Stone, Edwin

Results: 152

Heterozygous Triplication of Upstream Regulatory Sequences Leads to Dysregulation of Matrix Metalloproteinase 19 in Patients with Cavitary Optic Disc Anomaly.
Published in:
Human Mutation, 2015, v. 36, n. 3, p. 369, doi. 10.1002/humu.22754
By:
- Hazlewood, Ralph J.;
- Roos, Benjamin R.;
- Solivan‐Timpe, Frances;
- Honkanen, Robert A.;
- Jampol, Lee M.;
- Gieser, Stephen C.;
- Meyer, Kacie J.;
- Mullins, Robert F.;
- Kuehn, Markus H.;
- Scheetz, Todd E.;
- Kwon, Young H.;
- Alward, Wallace L.M.;
- Stone, Edwin M.;
- Fingert, John H.
Publication type:
Article
Heterozygous Deep-Intronic Variants and Deletions in ABCA4 in Persons with Retinal Dystrophies and One Exonic ABCA4 Variant.
Published in:
Human Mutation, 2015, v. 36, n. 1, p. 43, doi. 10.1002/humu.22717
By:
- Bax, Nathalie M.;
- Sangermano, Riccardo;
- Roosing, Susanne;
- Thiadens, Alberta A.H.J.;
- Hoefsloot, Lies H.;
- den Born, L. Ingeborgh;
- Phan, Milan;
- Klevering, B. Jeroen;
- Westeneng‐van Haaften, Carla;
- Braun, Terry A.;
- Zonneveld‐Vrieling, Marijke N.;
- Wijs, Ilse;
- Mutlu, Merve;
- Stone, Edwin M.;
- den Hollander, Anneke I.;
- Klaver, Caroline C.W.;
- Hoyng, Carel B.;
- Cremers, Frans P.M.
Publication type:
Article
Prioritization of Retinal Disease Genes: An Integrative Approach.
Published in:
Human Mutation, 2013, v. 34, n. 6, p. 853, doi. 10.1002/humu.22317
By:
- Wagner, Alex H.;
- Taylor, Kyle R.;
- DeLuca, Adam P.;
- Casavant, Thomas L.;
- Mullins, Robert F.;
- Stone, Edwin M.;
- Scheetz, Todd E.;
- Braun, Terry A.
Publication type:
Article
Intron-dependent evolution of chicken glyceraldehyde phosphate dehydrogenase gene.
Published in:
Nature, 1985, v. 313, n. 6002, p. 498, doi. 10.1038/313498a0
By:
- Stone, Edwin M.;
- Rothblum, Katrina N.;
- Schwartz, Robert J.
Publication type:
Article
Stepwise differentiation and functional characterization of human induced pluripotent stem cell-derived choroidal endothelial cells.
Published in:
Stem Cell Research & Therapy, 2020, v. 11, n. 1, p. 1, doi. 10.1186/s13287-020-01903-4
By:
- Mulfaul, Kelly;
- Giacalone, Joseph C.;
- Voigt, Andrew P.;
- Riker, Megan J.;
- Ochoa, Dalyz;
- Han, Ian C.;
- Stone, Edwin M.;
- Mullins, Robert F.;
- Tucker, Budd A.
Publication type:
Article
Classical and melanopsin photoreception in irradiance detection: negative masking of locomotor activity by light.
Published in:
European Journal of Neuroscience, 2008, v. 27, n. 8, p. 1973, doi. 10.1111/j.1460-9568.2008.06168.x
By:
- Thompson, Stewart;
- Foster, Russell G.;
- Stone, Edwin M.;
- Sheffield, Val C.;
- Mrosovsky, N.
Publication type:
Article
Chimeric Helper-Dependent Adenoviruses Transduce Retinal Ganglion Cells and Müller Cells in Human Retinal Explants.
Published in:
2021
By:
- Han, Ian C.;
- Burnight, Erin R.;
- Kaalberg, Emily E.;
- Boyce, Timothy M.;
- Stone, Edwin M.;
- Fingert, John H.;
- Mullins, Robert F.;
- Tucker, Budd A.;
- Wiley, Luke A.
Publication type:
journal article
Identifying Candidate Disease Genes with High-Performance Computing.
Published in:
Journal of Supercomputing, 2003, v. 26, n. 1, p. 7, doi. 10.1023/A:1024417200364
By:
- Braun, Terry A.;
- Scheetz, Todd E.;
- Webster, Gregg;
- Clark, Abe;
- Stone, Edwin M.;
- Sheffield, Val C.;
- Casavant, Thomas L.
Publication type:
Article
Genome-wide analysis of copy number variants in age-related macular degeneration.
Published in:
Human Genetics, 2011, v. 129, n. 1, p. 91, doi. 10.1007/s00439-010-0904-6
By:
- Meyer, Kacie J.;
- Davis, Lea K.;
- Schindler, Emily I.;
- Beck, John S.;
- Rudd, Danielle S.;
- Grundstad, A. Jason;
- Scheetz, Todd E.;
- Braun, Terry A.;
- Fingert, John H.;
- Alward, Wallace L.;
- Kwon, Young H.;
- Folk, James C.;
- Russell, Stephen R.;
- Wassink, Thomas H.;
- Stone, Edwin M.;
- Sheffield, Val C.
Publication type:
Article
METTL23 Variants and Patients With Normal-Tension Glaucoma.
Published in:
JAMA Ophthalmology, 2024, v. 142, n. 11, p. 1037, doi. 10.1001/jamaophthalmol.2024.3829
By:
- Scheetz, Todd. E.;
- Tollefson, Mallory R.;
- Roos, Ben R.;
- Boese, Erin A.;
- Pouw, Andrew E.;
- Stone, Edwin M.;
- Schnieders, Michael J.;
- Fingert, John H.
Publication type:
Article
GJA3 Genetic Variation and Autosomal Dominant Congenital Cataracts and Glaucoma Following Cataract Surgery.
Published in:
JAMA Ophthalmology, 2023, v. 141, n. 9, p. 872, doi. 10.1001/jamaophthalmol.2023.3535
By:
- Boese, Erin A.;
- Drack, Arlene V.;
- Roos, Benjamin R.;
- Alward, Wallace L. M.;
- Tollefson, Mallory R.;
- Schnieders, Michael J.;
- Scheetz, Todd E.;
- Boldt, H. Culver;
- Stone, Edwin M.;
- Fingert, John H.
Publication type:
Article
Familial Glaucoma-A Pedigree Revisited With Genetic Testing After 70 Years.
Published in:
2022
By:
- Quigley, Harry A.;
- Stone, Edwin M.;
- Fingert, John H.
Publication type:
journal article
Hyperlipofuscinosis With Subretinal Fibrosis and Choroidal Vascular Remodeling in Stargardt Disease.
Published in:
2021
By:
- Han, Ian C.;
- Menzel, Meghan C.;
- Stone, Edwin M.
Publication type:
journal article
Myocilin Mutations in Patients With Normal-Tension Glaucoma.
Published in:
2019
By:
- Alward, Wallace L. M.;
- van der Heide, Carly;
- Khanna, Cheryl L.;
- Roos, Ben R.;
- Sivaprasad, Sobha;
- Kam, Jason;
- Ritch, Robert;
- Lotery, Andrew;
- Igo, Robert P.;
- Cooke Bailey, Jessica N.;
- Stone, Edwin M.;
- Scheetz, Todd E.;
- Kwon, Young H.;
- Pasquale, Louis R.;
- Wiggs, Janey L.;
- Fingert, John H.;
- Igo, Robert P Jr;
- NEIGHBORHOOD Consortium
Publication type:
journal article
Phenotypic Variation in a Family With Pseudodominant Stargardt Disease.
Published in:
2016
By:
- Huckfeldt, Rachel M.;
- East, Jade S.;
- Stone, Edwin M.;
- Sohn, Elliott H.
Publication type:
journal article
Cone and rod loss in Stargardt disease revealed by adaptive optics scanning light ophthalmoscopy.
Published in:
2015
By:
- Hongxin Song;
- Rossi, Ethan A.;
- Latchney, Lisa;
- Bessette, Angela;
- Stone, Edwin;
- Hunter, Jennifer J.;
- Williams, David R.;
- Mina Chung;
- Song, Hongxin;
- Chung, Mina
Publication type:
journal article
Apparent Usher Syndrome Caused by the Combination of BBS1-Associated Retinitis Pigmentosa and SLC26A4-Associated Deafness.
Published in:
JAMA Ophthalmology, 2015, v. 133, n. 8, p. 967, doi. 10.1001/jamaophthalmol.2015.1463
By:
- DeLuca, Adam P.;
- Weed, Matthew C.;
- Haas, Christine M.;
- Halder, Jennifer A.;
- Stone, Edwin M.
Publication type:
Article
Autosomal Dominant Microcephaly Associated With Congenital Lymphedema and Chorioretinopathy Due to a Novel Mutation in KIF11.
Published in:
JAMA Ophthalmology, 2015, v. 133, n. 6, p. 720, doi. 10.1001/jamaophthalmol.2015.199
By:
- Mears, Katrina;
- Bakall, Benjamin;
- Harney, Lisa A.;
- Penticoff, Jessica A.;
- Stone, Edwin M.
Publication type:
Article
Genetic testing for age-related macular degeneration: not indicated now.
Published in:
2015
By:
- Stone, Edwin M
Publication type:
journal article
Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies.
Published in:
2015
By:
- Shankar, Suma P;
- Birch, David G;
- Ruiz, Richard S;
- Hughbanks-Wheaton, Dianna K;
- Sullivan, Lori S;
- Bowne, Sara J;
- Stone, Edwin M;
- Daiger, Stephen P
Publication type:
journal article
Genetic Testing for Age-Related Macular Degeneration.
Published in:
JAMA Ophthalmology, 2015, v. 133, n. 5, p. 598, doi. 10.1001/jamaophthalmol.2015.0369
By:
- Stone, Edwin M.
Publication type:
Article
Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies.
Published in:
JAMA Ophthalmology, 2015, v. 133, n. 5, p. 511, doi. 10.1001/jamaophthalmol.2014.6115
By:
- Shankar, Suma P.;
- Birch, David G.;
- Ruiz, Richard S.;
- Hughbanks-Wheaton, Dianna K.;
- Sullivan, Lori S.;
- Bowne, Sara J.;
- Stone, Edwin M.;
- Daiger, Stephen P.
Publication type:
Article
Comparison of Retinal and Choriocapillaris Thicknesses Following Sitting to Supine Transition in Healthy Individuals and Patients With Age-Related Macular Degeneration.
Published in:
JAMA Ophthalmology, 2015, v. 133, n. 3, p. 297, doi. 10.1001/jamaophthalmol.2014.5168
By:
- Almeida, David R. P.;
- Li Zhang;
- Chin, Eric K.;
- Mullins, Robert F.;
- Kucukevcilioglu, Murat;
- Critser, D. Brice;
- Sonka, Milan;
- Stone, Edwin M.;
- Folk, James C.;
- Abràmoff, Michael D.;
- Russell, Stephen R.
Publication type:
Article
Outer Segment Length in Different Best Disease Genotypes.
Published in:
JAMA Ophthalmology, 2014, v. 132, n. 9, p. 1152, doi. 10.1001/jamaophthalmol.2014.2980
By:
- Abràmoff, Michael D.;
- Mullins, Robert F.;
- Stone, Edwin M.
Publication type:
Article
Visual Acuity Changes in Patients With Leber Congenital Amaurosis and Mutations in CEP290.
Published in:
JAMA Ophthalmology, 2013, v. 131, n. 2, p. 178, doi. 10.1001/2013.jamaophthalmol.354
By:
- McAnany, J. Jason;
- Genead, Mohamed A.;
- Walia, Saloni;
- Drack, Arlene V.;
- Stone, Edwin M.;
- Koenekoop, Robert K.;
- Traboulsi, Elias I.;
- Smith, Alison;
- Weleber, Richard G.;
- Jacobson, Samuel G.;
- Fishman, Gerald A.
Publication type:
Article
High Dynamic Range Image Processing for Retinal Color Fundus Photography.
Published in:
Ophthalmic Surgery, Lasers & Imaging Retina, 2024, v. 55, n. 5, p. 263, doi. 10.3928/23258160-20240131-01
By:
- Critser, D. Brice;
- Troyer, Jody;
- Whitmore, S. Scott;
- Mansoor, Mahsaw;
- Stone, Edwin M.;
- Russell, Jonathan F.;
- Han, Ian C.
Publication type:
Article
Clinically detectable drusen domains in fibulin-5-associated age-related macular degeneration (AMD).
Published in:
International Ophthalmology, 2016, v. 36, n. 4, p. 569, doi. 10.1007/s10792-015-0164-5
By:
- Kucukevcilioglu, Murat;
- Patel, Chetankumar;
- Stone, Edwin;
- Russell, Stephen
Publication type:
Article
Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL.
Published in:
Human Mutation, 2010, v. 31, n. 6, p. E1472, doi. 10.1002/humu.21268
By:
- Nichols, Lorenzo L.;
- Alur, Ramakrishna P.;
- Boobalan, Elangovan;
- Sergeev, Yuri V.;
- Caruso, Rafael C.;
- Stone, Edwin M.;
- Swaroop, Anand;
- Johnson, Mary A.;
- Brooks, Brian P.
Publication type:
Article
Predicting the pathogenicity of RPE65 mutations.
Published in:
Human Mutation, 2009, v. 30, n. 8, p. 1183, doi. 10.1002/humu.21033
By:
- Philp, A.R.;
- Jin, M.;
- Li, S.;
- Schindler, E.I.;
- Iannaccone, A.;
- Lam, B.L.;
- Weleber, R.G.;
- Fishman, G.A.;
- Jacobson, S.G.;
- Mullins, R.F.;
- Travis, Gabriel H.;
- Stone, Edwin M.
Publication type:
Article
Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis.
Published in:
Human Mutation, 2007, v. 28, n. 11, p. 1074, doi. 10.1002/humu.20565
By:
- Cideciyan, Artur V.;
- Aleman, Tomas S.;
- Jacobson, Samuel G.;
- Khanna, Hemant;
- Sumaroka, Alexander;
- Aguirre, Geoffrey K.;
- Schwartz, Sharon B.;
- Windsor, Elizabeth A.M.;
- He, Shirley;
- Chang, Bo;
- Stone, Edwin M.;
- Swaroop, Anand
Publication type:
Article
Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His.
Published in:
Human Mutation, 2006, v. 27, n. 9, p. 921, doi. 10.1002/humu.20359
By:
- Grassi, Michael A.;
- Fingert, John H.;
- Scheetz, Todd E.;
- Roos, Benjamin R.;
- Ritch, Robert;
- West, Sheila K.;
- Kawase, Kazuhide;
- Shire, Abdirashid M.;
- Mullins, Robert F.;
- Stone, Edwin M.
Publication type:
Article
Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.
Published in:
Human Mutation, 2006, v. 27, n. 6, p. 568, doi. 10.1002/humu.20344
By:
- Lotery, Andrew J.;
- Baas, Dominique;
- Ridley, Caroline;
- Jones, Richard P.O.;
- Klaver, Caroline C.W.;
- Stone, Edwin;
- Nakamura, Tomoyuki;
- Luff, Andrew;
- Griffiths, Helen;
- Wang, Tao;
- Bergen, Arthur A.B.;
- Trump, Dorothy
Publication type:
Article
Genome-wide identification of pseudogenes capable of disease-causing gene conversion.
Published in:
Human Mutation, 2006, v. 27, n. 6, p. 545, doi. 10.1002/humu.20335
By:
- Bischof, Jared M.;
- Chiang, Annie P.;
- Scheetz, Todd E.;
- Stone, Edwin M.;
- Casavant, Thomas L.;
- Sheffield, Val C.;
- Braun, Terry A.
Publication type:
Article
Prioritizing regions of candidate genes for efficient mutation screening.
Published in:
2006
By:
- Braun, Terry A.;
- Shankar, Suma P.;
- Davis, Steve;
- O'Leary, Brian;
- Scheetz, Todd E.;
- Clark, Abbot F.;
- Sheffield, Val C.;
- Casavant, Thomas L.;
- Stone, Edwin M.
Publication type:
Other
Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.
Published in:
Human Mutation, 2004, v. 24, n. 5, p. 439, doi. 10.1002/humu.9285
By:
- Wright, Alan F.;
- Reddick, Adam C.;
- Schwartz, Sharon B.;
- Ferguson, Julie S.;
- Aleman, Tomas S.;
- Kellner, Ulrich;
- Jurklies, Bernhard;
- Schuster, Andreas;
- Zrenner, Eberhart;
- Wissinger, Bernd;
- Lennon, Alan;
- Shu, Xinhua;
- Cideciyan, Artur V.;
- Stone, Edwin M.;
- Jacobson, Samuel G.;
- Swaroop, Anand
Publication type:
Article
Left-sided valvular heart disease and retinopathy in a 38-year-old woman with attenuated mucopolysaccharidosis: a case report.
Published in:
Therapeutic Advances in Rare Disease, 2023, v. 4, p. 1, doi. 10.1177/26330040221145945
By:
- Asumda, Faizal Z.;
- Kraker, Jessica A.;
- Thomas, Sarah C.;
- Maleszewski, Joseph;
- Stone, Edwin M.;
- Lanpher, Brendan C.;
- Schimmenti, Lisa A.
Publication type:
Article
How treating heritable blindness may be coming into closer focus: Economic delivery of treatments to reach patient population base is key.
Published in:
Ophthalmology Times Europe, 2018, v. 14, n. 8, p. 20
By:
- Charters, Lynda;
- Stone, Edwin M.
Publication type:
Article
Single-Cell RNA Sequencing in Human Retinal Degeneration Reveals Distinct Glial Cell Populations.
Published in:
Cells (2073-4409), 2020, v. 9, n. 2, p. 438, doi. 10.3390/cells9020438
By:
- Voigt, Andrew P.;
- Binkley, Elaine;
- Flamme-Wiese, Miles J.;
- Zeng, Shemin;
- DeLuca, Adam P.;
- Scheetz, Todd E.;
- Tucker, Budd A.;
- Mullins, Robert F.;
- Stone, Edwin M.
Publication type:
Article
Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 1, p. 168, doi. 10.1093/hmg/dds421
By:
- Jacobson, Samuel G.;
- Cideciyan, Artur V.;
- Peshenko, Igor V.;
- Sumaroka, Alexander;
- Olshevskaya, Elena V.;
- Cao, Lihui;
- Schwartz, Sharon B.;
- Roman, Alejandro J.;
- Olivares, Melani B.;
- Sadigh, Sam;
- Yau, King-Wai;
- Heon, Elise;
- Stone, Edwin M.;
- Dizhoor, Alexander M.
Publication type:
Article
Analysis of ASB10 variants in open angle glaucoma.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 20, p. 4543, doi. 10.1093/hmg/dds288
By:
- Fingert, John H.;
- Roos, Ben R.;
- Solivan-Timpe, Frances;
- Miller, Kathy A.;
- Oetting, Thomas A.;
- Wang, Kai;
- Kwon, Young H.;
- Scheetz, Todd E.;
- Stone, Edwin M.;
- Alward, Wallace L.M.
Publication type:
Article
BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 9, p. 1945, doi. 10.1093/hmg/dds004
By:
- Zhang, Qihong;
- Seo, Seongjin;
- Bugge, Kevin;
- Stone, Edwin M.;
- Sheffield, Val C.
Publication type:
Article
Copy number variations on chromosome 12q14 in patients with normal tension glaucoma.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 12, p. 2482, doi. 10.1093/hmg/ddr123
By:
- Fingert, John H.;
- Robin, Alan L.;
- Stone, Jennifer L.;
- Roos, Ben R.;
- Davis, Lea K.;
- Scheetz, Todd E.;
- Bennett, Steve R.;
- Wassink, Thomas H.;
- Kwon, Young H.;
- Alward, Wallace L.M.;
- Mullins, Robert F.;
- Sheffield, Val C.;
- Stone, Edwin M.
Publication type:
Article
The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 8, p. 1467, doi. 10.1093/hmg/ddr025
By:
- Baye, Lisa M.;
- Patrinostro, Xiaobai;
- Swaminathan, Svetha;
- Beck, John S.;
- Zhang, Yan;
- Stone, Edwin M.;
- Sheffield, Val C.;
- Slusarski, Diane C.
Publication type:
Article
Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 7, p. 1411, doi. 10.1093/hmg/ddr022
By:
- Cideciyan, Artur V.;
- Rachel, Rivka A.;
- Aleman, Tomas S.;
- Swider, Malgorzata;
- Schwartz, Sharon B.;
- Sumaroka, Alexander;
- Roman, Alejandro J.;
- Stone, Edwin M.;
- Jacobson, Samuel G.;
- Swaroop, Anand
Publication type:
Article
Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 19, p. 3693, doi. 10.1093/hmg/ddq284
By:
- Schindler, Emily I.;
- Nylen, Erik L.;
- Ko, Audrey C.;
- Affatigato, Louisa M.;
- Heggen, Andrew C.;
- Wang, Kai;
- Sheffield, Val C.;
- Stone, Edwin M.
Publication type:
Article
ABCA4 disease progression and a proposed strategy for gene therapy.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 5, p. 931, doi. 10.1093/hmg/ddn421
By:
- Cideciyan, Artur V.;
- Swider, Malgorzata;
- Aleman, Tomas S.;
- Tsybovsky, Yaroslav;
- Schwartz, Sharon B.;
- Windsor, Elizabeth A.M.;
- Roman, Alejandro J.;
- Sumaroka, Alexander;
- Steinberg, Janet D.;
- Jacobson, Samuel G.;
- Stone, Edwin M.;
- Palczewski, Krzysztof
Publication type:
Article
The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice.
Published in:
Human Molecular Genetics, 2007, v. 16, n. 20, p. 3411, doi. 10.1093/hmg/ddm198
By:
- Fu, Li;
- Garland, Donita;
- Yang, Zhenglin;
- Shukla, Dhananjay;
- Rajendran, Anand;
- Pearson, Erik;
- Stone, Edwin M.;
- Zhang, Kang;
- Pierce, Eric A.
Publication type:
Article
Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure.
Published in:
Human Molecular Genetics, 2007, v. 16, n. 6, p. 609, doi. 10.1093/hmg/ddm001
By:
- Shepard, Allan R.;
- Jacobson, Nasreen;
- Millar, J. Cameron;
- Pang, Iok-Hou;
- Steely, H. Thomas;
- Searby, Charles C.;
- Sheffield, Val C.;
- Stone, Edwin M.;
- Clark, Abbot F.
Publication type:
Article
Bardet–Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function.
Published in:
Human Molecular Genetics, 2006, v. 15, n. 5, p. 667, doi. 10.1093/hmg/ddi468
By:
- Yen, Hsan-Jan;
- Tayeh, Marwan K.;
- Mullins, Robert F.;
- Stone, Edwin M.;
- Sheffield, Val C.;
- Slusarski, Diane C.
Publication type:
Article
Mkks-null mice have a phenotype resembling Bardet–Biedl syndrome.
Published in:
Human Molecular Genetics, 2005, v. 14, n. 9, p. 1109, doi. 10.1093/hmg/ddi123
By:
- Fath, Melissa A.;
- Mullins, Robert F.;
- Searby, Charles;
- Nishimura, Darryl Y.;
- Wei, Jun;
- Rahmouni, Kamal;
- Davis, Roger E.;
- Tayeh, Marwan K.;
- Andrews, Michael;
- Yang, Baoli;
- Sigmund, Curt D.;
- Stone, Edwin M.;
- Sheffield, Val C.
Publication type:
Article