Billingsley, Gail D: search on Z-Library

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1

Functional assessment of genetic variants of α1-Antitrypsin

Gail D. Billingsley, Diane Wilson Cox

Journal:

Year:

1982

Language:

english

File:

PDF, 447 KB

english, 1982

2

CRYBA4, a Novel Human Cataract Gene, Is Also Involved in Microphthalmia

Gail Billingsley, Sathiyavedu T. Santhiya, Andrew D. Paterson, Koji Ogata, Shoshana Wodak, S. Mohsen Hosseini, Shyam Manohar Manisastry, Perumalsamy Vijayalakshmi, Pudhiya Mundyat Gopinath, Jochen Gra

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 507 KB

english, 2006

3

Digenic Inheritance of Early-Onset Glaucoma: CYP1B1, a Potential Modifier Gene

Andrea L. Vincent, Gail Billingsley, Yvonne Buys, Alex V. Levin, Megan Priston, Graham Trope, Donna Williams-Lyn, Elise Héon

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 484 KB

english, 2002

4

Three new rare variants of α1-Antitrypsin

Diane Wilson Cox, Shirley Smyth, Gail Billingsley

Journal:

Year:

1982

Language:

english

File:

PDF, 318 KB

english, 1982

5

Mutational Analysis of SDCCAG8 in Bardet-Biedl Syndrome Patients with Renal Involvement and Absent Polydactyly

Billingsley, Gail, Vincent, Ajoy, Deveault, Catherine, Héon, Elise

Journal:

Ophthalmic Genetics

Year:

2012

Language:

english

File:

PDF, 852 KB

english, 2012

6

The γ-Crystallins and Human Cataracts: A Puzzle Made Clearer

Elise Héon, Megan Priston, Daniel F. Schorderet, Gail D. Billingsley, Philippe Othenin Girard, Nicolette Lubsen, Francis L. Munier

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 387 KB

english, 1999

7

Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndrome

Tavares, Erika, Tang, Chen Yu, Vig, Anjali, Li, Shuning, Billingsley, Gail, Sung, Wilson, Vincent, Ajoy, Thiruvahindrapuram, Bhooma, Héon, Elise

Journal:

Molecular Genetics & Genomic Medicine

Year:

2018

Language:

english

File:

PDF, 499 KB

english, 2018

8

BBS genotype–phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

Catherine Deveault, Gail Billingsley, Jacque L. Duncan, Jenea Bin, Rebecca Theal, Ajoy Vincent, Karen J. Fieggen, Christina Gerth, Nima Noordeh, Elias I. Traboulsi, Gerald A. Fishman, David Chitayat,

Journal:

Year:

2011

Language:

english

File:

PDF, 313 KB

english, 2011

9

Oligocone trichromacy is part of the spectrum of CNGA3 -related cone system disorders

Vincent, Ajoy, Wright, Tom, Billingsley, Gail, Westall, Carol, Héon, Elise

Journal:

Ophthalmic Genetics

Year:

2011

Language:

english

File:

PDF, 961 KB

english, 2011

10

A Progressive Autosomal Recessive Cataract Locus Maps to Chromosome 9q13-q22

Elise Héon, Andrew D. Paterson, Michael Fraser, Gail Billingsley, Megan Priston, Aubin Balmer, Daniel F. Schorderet, Andrei Verner, Thomas J. Hudson, Francis L. Munier

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 590 KB

english, 2001

11

Cetuximab Combined With Induction Oxaliplatin and Capecitabine, Followed by Neoadjuvant Chemoradiation for Locally Advanced Rectal Cancer: SWOG 0713

Leichman, Cynthia Gail, McDonough, Shannon L., Smalley, Stephen R., Billingsley, Kevin G., Lenz, Heinz-Josef, Beldner, Matthew A., Hezel, Aram F., Velasco, Mario R., Guthrie, Katherine A., Blanke, Cha

Journal:

Clinical Colorectal Cancer

Year:

2017

Language:

english

File:

PDF, 287 KB

english, 2017

12

Further Genetic Heterogeneity for Autosomal Dominant Human Sutural Cataracts

Klopp, Norman, Héon, Elise, Billingsley, Gail, Illig, Thomas, Wjst, Matthias, Rudolph, Günther, Graw, Jochen

Journal:

Ophthalmic Research

Year:

2003

Language:

english

File:

PDF, 230 KB

english, 2003

13

Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25

Mirzayans, Farideh, Gould, Douglas B, Héon, E, Billingsley, Gail D, Cheung, Jason C, Mears, Alan J, Walter, Michael A

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 132 KB

english, 2000

14

Gene Localization for Aculeiform Cataract, on Chromosome 2q33-35

Elise Héon, Sen Liu, Gail Billingsley, Ottavio Bernasconi, Cathy Tsifildis, Daniel F. Schorderet, Francis L. Munier

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 1.22 MB

english, 1998

15

Defining the Pathogenicity of Optineurin in Juvenile Open-Angle Glaucoma

Willoughby, Colin E., Chan, Louie Loh Yen, Herd, Sarah, Billingsley, Gail, Noordeh, Nima, Levin, Alex V., Buys, Yvonne, Trope, Graham, Sarfarazi, Mansoor, He´on, Elise

Journal:

Investigative Ophthalmology & Visual Science

Year:

2004

Language:

english

File:

PDF, 343 KB

english, 2004

16

BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population

Jenea Bin, Jagadeesan Madhavan, Walter Ferrini, Calvin A. Mok, Gail Billingsley, Elise Héon

Journal:

Year:

2009

Language:

english

File:

PDF, 247 KB

english, 2009

17

Clinical phenotype of posterior polymorphous corneal dystrophy in a family with a novel ZEB1 mutation

Dan Q. Nguyen, Mohsen Hosseini, Gail Billingsley, Elise Héon, Amanda J. Churchill

Journal:

Acta Ophthalmologica (Blackwell)

Year:

2010

Language:

english

File:

PDF, 232 KB

english, 2010

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