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Results: 26

Ocular genetics in the genomics age.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 860, doi. 10.1002/ajmg.c.31844
By:
- Walter, Michael A.;
- Rezaie, Tayebeh;
- Hufnagel, Robert B.;
- Arno, Gavin
Publication type:
Article
Cover Image, Volume 184, Number 3, September 2020.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. i, doi. 10.1002/ajmg.c.31847
Publication type:
Article
Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 828, doi. 10.1002/ajmg.c.31843
By:
- Goetz, Kerry E.;
- Reeves, Melissa J.;
- Gagadam, Shaina;
- Blain, Delphine;
- Bender, Chelsea;
- Lwin, Cara;
- Naik, Amelia;
- Tumminia, Santa J.;
- Hufnagel, Robert B.
Publication type:
Article
The new landscape of retinal gene therapy.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 846, doi. 10.1002/ajmg.c.31842
By:
- Ku, Cristy A.;
- Pennesi, Mark E.
Publication type:
Article
Introduction to the special issue on Ophthalmic Genetics: Vision in 2020.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 535, doi. 10.1002/ajmg.c.31841
By:
- Hufnagel, Robert B.;
- Walter, Michael A.;
- Arno, Gavin
Publication type:
Article
CHARGE syndrome without colobomas: Ophthalmic findings.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 611, doi. 10.1002/ajmg.c.31840
By:
- Dosunmu, Eniolami O.;
- Castleberry, Katherine M.
Publication type:
Article
Systemic and ocular manifestations of a patient with mosaic ARID1A‐associated Coffin‐Siris syndrome and review of select mosaic conditions with ophthalmic manifestations.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 644, doi. 10.1002/ajmg.c.31839
By:
- Miraldi Utz, Virginia;
- Brightman, Diana S.;
- Sandoval, Monica A.;
- Hufnagel, Robert B.;
- Saal, Howard M.
Publication type:
Article
Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 694, doi. 10.1002/ajmg.c.31838
By:
- Liu, Xiao;
- Meng, Xiaohong;
- Yang, Lizhu;
- Long, Yanling;
- Fujinami‐Yokokawa, Yu;
- Ren, Jiayun;
- Kurihara, Toshihide;
- Tsubota, Kazuo;
- Tsunoda, Kazushige;
- Fujinami, Kaoru;
- Li, Shiying
Publication type:
Article
Molecular diagnostic challenges for non‐retinal developmental eye disorders in the United Kingdom.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 578, doi. 10.1002/ajmg.c.31837
By:
- Jackson, Daniel;
- Malka, Samantha;
- Harding, Philippa;
- Palma, Juliana;
- Dunbar, Hannah;
- Moosajee, Mariya
Publication type:
Article
Molecular and phenotypic investigation of a New Zealand cohort of childhood‐onset retinal dystrophy.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 708, doi. 10.1002/ajmg.c.31836
By:
- Hull, Sarah;
- Kiray, Gulunay;
- Chiang, John Pei‐Wen;
- Vincent, Andrea L.
Publication type:
Article
Genetic testing for inherited retinal degenerations: Triumphs and tribulations.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 571, doi. 10.1002/ajmg.c.31835
By:
- Branham, Kari;
- Schlegel, Dana;
- Fahim, Abigail T.;
- Jayasundera, K. Thiran
Publication type:
Article
A diagnostic approach to syndromic retinal dystrophies with intellectual disability.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 538, doi. 10.1002/ajmg.c.31834
By:
- Yang, Xiao‐Ru;
- Benson, Matthew D.;
- MacDonald, Ian M.;
- Innes, A. Micheil
Publication type:
Article
Insights into the regulatory molecules involved in glaucoma pathogenesis.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 782, doi. 10.1002/ajmg.c.31833
By:
- Moazzeni, Hamidreza;
- Khani, Marzieh;
- Elahi, Elahe
Publication type:
Article
Ophthalmic genetics in South America.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 753, doi. 10.1002/ajmg.c.31832
By:
- Daich Varela, Malena;
- Moya, Rene;
- Schlottmann, Patricio G.;
- Hufnagel, Robert B.;
- Arberas, Claudia;
- Fernández, Federico M.;
- Inga, M. Eugenia;
- Lores, Juliana;
- Pachajoa, Harry;
- Prada, Carlos E.;
- Sallum, Juliana M. Ferraz
Publication type:
Article
Ocular coloboma: Genetic variants reveal a dynamic model of eye development.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 590, doi. 10.1002/ajmg.c.31831
By:
- Yoon, Kevin H.;
- Fox, Sabrina C.;
- Dicipulo, Renée;
- Lehmann, Ordan J.;
- Waskiewicz, Andrew J.
Publication type:
Article
RP2‐associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype–phenotype association.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 675, doi. 10.1002/ajmg.c.31830
By:
- Fujinami, Kaoru;
- Liu, Xiao;
- Ueno, Shinji;
- Mizota, Atsushi;
- Shinoda, Kei;
- Kuniyoshi, Kazuki;
- Fujinami‐Yokokawa, Yu;
- Yang, Lizhu;
- Arno, Gavin;
- Pontikos, Nikolas;
- Kameya, Shuhei;
- Kominami, Taro;
- Terasaki, Hiroko;
- Sakuramoto, Hiroyuki;
- Nakamura, Natsuko;
- Kurihara, Toshihide;
- Tsubota, Kazuo;
- Miyake, Yozo;
- Yoshiake, Kazutoshi;
- Iwata, Takeshi
Publication type:
Article
Inherited eye diseases in Turkey: Current approaches and future directions.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 773, doi. 10.1002/ajmg.c.31829
By:
- Yaylacioglu Tuncay, Fulya;
- Guntekin Ergun, Sezen;
- Oner, Ayse;
- Turan, Ayse;
- Ozmert, Emin;
- Ergun, Mehmet Ali;
- Ozdek, Sengul
Publication type:
Article
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 728, doi. 10.1002/ajmg.c.31828
By:
- Sallum, Juliana Maria Ferraz;
- Motta, Fabiana Louise;
- Arno, Gavin;
- Porto, Fernanda Belga Ottoni;
- Resende, Rosane Guazi;
- Belfort, Rubens
Publication type:
Article
Ophthalmic genetics practice and research in India: Vision in 2020.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 718, doi. 10.1002/ajmg.c.31827
By:
- Bansal, Mayank;
- Tandon, Radhika;
- Saxena, Rohit;
- Sharma, Arundhati;
- Sen, Sagnik;
- Kishore, Alisha;
- Venkatesh, Pradeep;
- Maiti, Souvik;
- Chakraborty, Debojyoti
Publication type:
Article
Clinical and genetic characteristics of 10 Japanese patients with PROM1‐associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 656, doi. 10.1002/ajmg.c.31826
By:
- Fujinami, Kaoru;
- Oishi, Akio;
- Yang, Lizhu;
- Arno, Gavin;
- Pontikos, Nikolas;
- Yoshitake, Kazutoshi;
- Fujinami‐Yokokawa, Yu;
- Liu, Xiao;
- Hayashi, Takaaki;
- Katagiri, Satoshi;
- Mizobuchi, Kei;
- Mizota, Atsushi;
- Shinoda, Kei;
- Nakamura, Natsuko;
- Kurihara, Toshihide;
- Tsubota, Kazuo;
- Miyake, Yozo;
- Iwata, Takeshi;
- Tsujikawa, Akitaka;
- Tsunoda, Kazushige
Publication type:
Article
Implementation of a registry and open access genetic testing program for inherited retinal diseases within a non‐profit foundation.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 838, doi. 10.1002/ajmg.c.31825
By:
- Mansfield, Brian C.;
- Yerxa, Benjamin R.;
- Branham, Kari H.
Publication type:
Article
The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 762, doi. 10.1002/ajmg.c.31824
By:
- Méjécase, Cécile;
- Kozak, Igor;
- Moosajee, Mariya
Publication type:
Article
The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 618, doi. 10.1002/ajmg.c.31823
By:
- Varela, Malena Daich;
- Jani, Priyam;
- Zein, Wadih M.;
- D'Souza, Precilla;
- Wolfe, Lynne;
- Chisholm, Jennifer;
- Zalewski, Christopher;
- Adams, David;
- Warner, Blake M.;
- Huryn, Laryssa A.;
- Hufnagel, Robert B.
Publication type:
Article
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 631, doi. 10.1002/ajmg.c.31822
By:
- Schiff, Elena R.;
- Daich Varela, Malena;
- Robson, Anthony G.;
- Pierpoint, Karen;
- Ba‐Abbad, Rola;
- Nutan, Savita;
- Zein, Wadih M.;
- Ullah, Ehsan;
- Huryn, Laryssa A.;
- Tuupanen, Sari;
- Mahroo, Omar A.;
- Michaelides, Michel;
- Burke, Derek;
- Harvey, Katie;
- Arno, Gavin;
- Hufnagel, Robert B.;
- Webster, Andrew R.
Publication type:
Article
Publication schedule for 2020.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 534, doi. 10.1002/ajmg.c.31713
Publication type:
Article
Table of Contents, Volume 184, Number 3, September 2020.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 531, doi. 10.1002/ajmg.c.31712
Publication type:
Article