Works matching IS 15524868 AND DT 2020 AND VI 184 AND IP 3

Results: 26

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

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

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