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Fielding Hejtmancik

Research Profile

Concepts & Ideas

Disorders

Procedures

Physiology

Genes & Molecular Sequences

Recessive Genes

Chemicals & Drugs

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Pakistan

Anatomy

Crystalline Lens

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Publications

TOP 3
Settimio Rossi; Carlo Gesualdo; J Fielding Hejtmancik; Anren Li; Francesco Testa; Fulya Yaylacioğlu; Francesca Simonelli
Clinical and genetic features in Italian Bietti crystalline dystrophy patients.
Thomas M Bennett; J Fielding Hejtmancik; Chongfei Jin; Giovanni Maraini; Wenmin Sun; Alan Shiels
Noncoding variation of the gene for ferritin light chain in hereditary and age-related cataract.
Suganthalakshmi Balasubbu; J Fielding Hejtmancik; Xiaodong Jiao; Subbaiah Ramasamy Krishnadas; Periasamy Sundaresan
Evaluation of SNPs on chromosome 2p with primary open angle glaucoma in the South Indian cohort.

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2013: Settimio Rossi; Carlo Gesualdo; J Fielding Hejtmancik; Anren Li; Francesco Testa; Fulya Yaylacioğlu; Francesca Simonelli
Clinical and genetic features in Italian Bietti crystalline dystrophy patients.
The British journal of ophthalmology 2013;97(2):174-9.
2013: Thomas M Bennett; J Fielding Hejtmancik; Chongfei Jin; Giovanni Maraini; Wenmin Sun; Alan Shiels
Noncoding variation of the gene for ferritin light chain in hereditary and age-related cataract.
Molecular vision 2013;19():835-44.
2012: Suganthalakshmi Balasubbu; J Fielding Hejtmancik; Xiaodong Jiao; Subbaiah Ramasamy Krishnadas; Periasamy Sundaresan
Evaluation of SNPs on chromosome 2p with primary open angle glaucoma in the South Indian cohort.
Investigative ophthalmology & visual science 2012;53(4):1861-4.
2012: Muhammad Asif Naeem; Saima Riazuddin; Sheikh Riazuddin; Shahbaz Ali; Radha Ayyagari; Venkata R M Chavali; J Fielding Hejtmancik; Tayyab Husnain; Muhammad Iqbal; Shaheen N Khan; Paul Sieving; Sheikh Amer Riazuddin
GNAT1 associated with autosomal recessive congenital stationary night blindness.
Investigative ophthalmology & visual science 2012;53(3):1353-61.
2012: Xiaodong Jiao; Anren Li; Shiqiang Li; Panfeng Wang; Qingjiong Zhang; Xiangming Guo; J Fielding Hejtmancik
Association of markers at chromosome 15q14 in Chinese patients with moderate to high myopia.
Molecular vision 2012;18():2633-46.
2012: Lisa Ann Brennan; Daniel Chauss; Ales Cvekl; Shuying He; J Fielding Hejtmancik; Wanda Lee Kantorow; Lyndzie Mattucci; Rebecca McGreal; Sheikh Amer Riazuddin; Jianning Wei; Marc Kantorow
Spatial expression patterns of autophagy genes in the eye lens and induction of autophagy in lens cells.
Molecular vision 2012;18():1773-86.
2012: Dan Cao; Anselm Hennis; Xiaodong Jiao; M Cristina Leske; Xing Liu; Barbara Nemesure; J Fielding Hejtmancik
CDKN2B polymorphism is associated with primary open-angle glaucoma (POAG) in the Afro-Caribbean population of Barbados, West Indies.
PloS one 2012;7(6):e39278.
2012: Mason Posner; Jackie Skiba; Monika B Dolinska; Amy Drossman; J Fielding Hejtmancik; Andor J Kiss; Yuri V Sergeev
Functional validation of hydrophobic adaptation to physiological temperature in the small heat shock protein αA-crystallin.
PloS one 2012;7(3):e34438.
2011: Muhammad Iqbal; Shaheen N Khan; Muhammad Asif Naeem; Zaheeruddin A Qazi; Saima Riazuddin; Shahbaz Ali; Tahir Farooq; J Fielding Hejtmancik; Tayyab Husnain; Sheikh Amer Riazuddin; Paul A Sieving; Sheikh Riazuddin
Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani families.
Archives of ophthalmology 2011;129(10):1351-7.
2011: Jianjun Chen; Monia Ben Hamed Hammer; Shyana Harper; Xiaodong Jiao; Nicholas Katsanis; Sheikh Riazuddin; Sheikh Amer Riazuddin; Nizar Smaoui; Eliot L Berson; Habiba Chaabouni; J Fielding Hejtmancik
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.
Investigative ophthalmology & visual science 2011;52(8):5317-24.
2011: Sadaf Naz; Sheikh Amer Riazuddin; Paul A Sieving; Ahmad U Zafar; Shahbaz Ali; Nadeem H Butt; Tahir Farooq; J Fielding Hejtmancik; Tayyab Husnain; Shaheen N Khan; Ian M MacDonald; Sheikh Riazuddin
Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families.
The British journal of ophthalmology 2011;95(7):1019-24.
2011: Zhiwei Ma; Veena Theendakara; Eric Wawrousek; Wenliang Yao; Chi-Chao Chan; J Fielding Hejtmancik
Overexpression of human γC-crystallin 5 bp duplication disrupts lens morphology in transgenic mice.
Investigative ophthalmology & visual science 2011;52(8):5369-75.
2011: Jianjun Chen; Robert Fariss; Moshe Frydman; Xiaodong Jiao; Marc Kantorow; Wanda Lee Kantorow; Zhiwei Ma; Elon Pras; Elon Pras; Sheikh Riazuddin; Sheikh Amer Riazuddin; J Fielding Hejtmancik
Mutations in FYCO1 cause autosomal-recessive congenital cataracts.
American journal of human genetics 2011;88(6):827-38.
2011: Shahbaz Ali; J Fielding Hejtmancik; Tayyab Husnain; Shaheen N Khan; Idrees A Nasir; Sheikh Amer Riazuddin; Amber Shahzadi; Paul A Sieving; Javed Akram; Sheikh Riazuddin
Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa.
Molecular vision 2011;17():1373-80.
2011: Lin Li; Xueshan Xiao; Shiqiang Li; Xiaoyun Jia; Panfeng Wang; Xiangming Guo; Xiaodong Jiao; Qingjiong Zhang; J Fielding Hejtmancik
Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.
PloS one 2011;6(5):e19458.
2010: Sheikh Amer Riazuddin; Amber Shahzadi; Christina Zeitz; Zubair M Ahmed; Radha Ayyagari; Venkata R M Chavali; Virgilio G Ponferrada; Isabelle Audo; Christelle Michiels; Marie-Elise Lancelot; Idrees A Nasir; Ahmad U Zafar; Shaheen N Khan; Tayyab Husnain; Xiaodong Jiao; Ian M MacDonald; Sheikh Riazuddin; Paul Sieving; Nicholas Katsanis; J Fielding Hejtmancik
A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.
American journal of human genetics 2010;87(4):523-31.
2010: Lin Li; Naoki Nakaya; Venkata R M Chavali; Zhiwei Ma; Xiaodong Jiao; Paul Sieving; Sheikh Riazuddin; Stanislav I Tomarev; Radha Ayyagari; Sheikh Amer Riazuddin; J Fielding Hejtmancik
A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa.
American journal of human genetics 2010;87(3):400-9.
2010: Haiba Kaul; Sheikh Amer Riazuddin; Zaheeruddin A Qazi; Idrees A Nasir; Ahmad U Zafar; Shaheen N Khan; Tayyab Husnain; Javed Akram; J Fielding Hejtmancik; Sheikh Riazuddin
Ectopia lentis in a consanguineous pakistani family and a novel locus on chromosome 8q.
Archives of ophthalmology 2010;128(8):1046-9.
2010: Amber Shahzadi; Sheikh Amer Riazuddin; Shahbaz Ali; David Li; Shaheen N Khan; Tayyab Husnain; Javed Akram; Paul Sieving; J Fielding Hejtmancik; Sheikh Riazuddin
Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.
The British journal of ophthalmology 2010;94(8):1094-9.
2010: Sheikh Amer Riazuddin; Muhammad Iqbal; Yue Wang; Tomohiro Masuda; Yuhng Chen; Sara Bowne; Lori S Sullivan; Naushin H Waseem; Shomi Bhattacharya; Stephen P Daiger; Kang Zhang; Shaheen N Khan; Sheikh Riazuddin; J Fielding Hejtmancik; Paul Sieving; Donald J Zack; Nicholas Katsanis
A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa.
American journal of human genetics 2010;86(5):805-12.
2010: Shagufta Naz; Sheikh Amer Riazuddin; Lin Li; Mariam Shahid; Samra Kousar; Paul Sieving; J Fielding Hejtmancik; Sheikh Riazuddin
A novel locus for autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family maps to chromosome 2p.
American journal of ophthalmology 2010;149(5):861-6.
2010: Ningdong Li; Han Mei; Ian M MacDonald; XiaoDong Jiao; J Fielding Hejtmancik
Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family.
Investigative ophthalmology & visual science 2010;51(2):1036-43.
2010: Namerah Sabir; Sheikh Amer Riazuddin; Haiba Kaul; Farheena Iqbal; Idrees A Nasir; Ahmad U Zafar; Zaheeruddin A Qazi; Nadeem H Butt; Shaheen N Khan; Tayyab Husnain; J Fielding Hejtmancik; Sheikh Riazuddin
Mapping of a novel locus associated with autosomal recessive congenital cataract to chromosome 8p.
Molecular vision 2010;16():2911-5.
2010: Namerah Sabir; Sheikh Amer Riazuddin; Tariq Butt; Farheena Iqbal; Idrees A Nasir; Ahmad U Zafar; Zaheeruddin A Qazi; Nadeem H Butt; Shaheen N Khan; Tayyab Husnain; J Fielding Hejtmancik; Sheikh Riazuddin
Mapping of a new locus associated with autosomal recessive congenital cataract to chromosome 3q.
Molecular vision 2010;16():2634-8.
2010: Suganthalakshmi Balasubbu; Periasamy Sundaresan; Anand Rajendran; Kim Ramasamy; Gowthaman Govindarajan; Namperumalsamy Perumalsamy; J Fielding Hejtmancik
Association analysis of nine candidate gene polymorphisms in Indian patients with type 2 diabetic retinopathy.
BMC medical genetics 2010;11():158.
2010: Alan Shiels; Thomas M Bennett; J Fielding Hejtmancik
Cat-Map: putting cataract on the map.
Molecular vision 2010;16():2007-15.
2010: Afshan Yasmeen; Sheikh Amer Riazuddin; Haiba Kaul; Sadia Mohsin; Mohsin Khan; Zaheeruddin A Qazi; Idrees A Nasir; Ahmad U Zafar; Shaheen N Khan; Tayyab Husnain; Javed Akram; J Fielding Hejtmancik; Sheikh Riazuddin
Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.
Molecular vision 2010;16():682-8.
2010: Haiba Kaul; Sheikh Amer Riazuddin; Mariam Shahid; Samra Kousar; Nadeem H Butt; Ahmad U Zafar; Shaheen N Khan; Tayyab Husnain; Javed Akram; J Fielding Hejtmancik; Sheikh Riazuddin
Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family.
Molecular vision 2010;16():511-7.
2010: Haiba Kaul; Sheikh Amer Riazuddin; Afshan Yasmeen; Sadia Mohsin; Mohsin Khan; Idrees A Nasir; Shaheen N Khan; Tayyab Husnain; Javed Akram; J Fielding Hejtmancik; Sheikh Riazuddin
A new locus for autosomal recessive congenital cataract identified in a Pakistani family.
Molecular vision 2010;16():240-5.
2009: Xiaodong Jiao; Zhenglin Yang; Xian Yang; Yuhong Chen; Zongzhong Tong; Chao Zhao; Jiexi Zeng; Haoyu Chen; Daniel Gibbs; Xufang Sun; Bei Li; W Scott Wakins; Cynthia Meyer; Xiaolei Wang; Daniel Kasuga; Matthew Bedell; Erik Pearson; Robert N Weinreb; M Cristina Leske; Anselm Hennis; Andrew DeWan; Barbara Nemesure; Lynn B Jorde; Josephine Hoh; J Fielding Hejtmancik; Kang Zhang
Common variants on chromosome 2 and risk of primary open-angle glaucoma in the Afro-Caribbean population of Barbados.
Proceedings of the National Academy of Sciences of the United States of America 2009;106(40):17105-10.
2009: Zhiwei Ma; Grzegorz Piszczek; Paul T Wingfield; Yuri V Sergeev; J Fielding Hejtmancik
The G18V CRYGS mutation associated with human cataracts increases gammaS-crystallin sensitivity to thermal and chemical stress.
Biochemistry 2009;48(30):7334-41.
2009: Manir Ali; Martin McKibbin; Adam Booth; David A Parry; Payal Jain; Sheikh Amer Riazuddin; J Fielding Hejtmancik; Shaheen N Khan; Sabika Firasat; Mike Shires; David F Gilmour; Katherine Towns; Anna-Louise Murphy; Dimitar Azmanov; Ivailo Tournev; Sylvia Cherninkova; Hussain Jafri; Yasmin Raashid; Carmel Toomes; Jamie Craig; David A Mackey; Luba Kalaydjieva; Sheikh Riazuddin; Chris F Inglehearn
Null mutations in LTBP2 cause primary congenital glaucoma.
American journal of human genetics 2009;84(5):664-71.
2009: Jacob D Brown; Sunit Dutta; Kapil Bharti; Robert F Bonner; Peter J Munson; Igor B Dawid; Amana L Akhtar; Ighovie F Onojafe; Ramakrishna P Alur; Jeffrey M Gross; J Fielding Hejtmancik; Xiaodong Jiao; Wai-Yee Chan; Brian P Brooks
Expression profiling during ocular development identifies 2 Nlz genes with a critical role in optic fissure closure.
Proceedings of the National Academy of Sciences of the United States of America 2009;106(5):1462-7.
2009: Sheikh Amer Riazuddin; Laleh Amiri-Kordestani; Haiba Kaul; Tariq Butt; Xiaodong Jiao; Sheikh Riazuddin; J Fielding Hejtmancik
Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31.
Molecular vision 2009;15():1050-6.
2008: May P Chan; Monika Dolinska; Yuri V Sergeev; Paul T Wingfield; J Fielding Hejtmancik
Association properties of betaB1- and betaA3-crystallins: ability to form heterotetramers.
Biochemistry 2008;47(42):11062-9.
2008: Mary J Mattapallil; Azize Sahin; Phyllis B Silver; Shu-Hui Sun; Chi-Chao Chan; Elaine F Remmers; J Fielding Hejtmancik; Rachel R Caspi
Common genetic determinants of uveitis shared with other autoimmune disorders.
Journal of immunology (Baltimore, Md. : 1950) 2008;180(10):6751-9.
2008: J Fielding Hejtmancik
Congenital cataracts and their molecular genetics.
Seminars in cell & developmental biology 2008;19(2):134-49.
2008: Alan Shiels; Thomas M Bennett; Harry L S Knopf; Giovanni Maraini; Anren Li; Xiaodong Jiao; J Fielding Hejtmancik
The EPHA2 gene is associated with cataracts linked to chromosome 1p.
Molecular vision 2008;14():2042-55.
2008: Sabika Firasat; Sheikh Amer Riazuddin; J Fielding Hejtmancik; Sheikh Riazuddin
Primary congenital glaucoma localizes to chromosome 14q24.2-24.3 in two consanguineous Pakistani families.
Molecular vision 2008;14():1659-65.
2008: Ramachandran Ramya Devi; Wenliang Yao; Perumalsamy Vijayalakshmi; Yuri V Sergeev; Sundaresan Periasamy; J Fielding Hejtmancik
Crystallin gene mutations in Indian families with inherited pediatric cataract.
Molecular vision 2008;14():1157-70.
2008: J Fielding Hejtmancik; Xiaodong Jiao; Anren Li; Yuri V Sergeev; Xiaoyan Ding; Anil K Sharma; Chi-Chao Chan; Igor Medina; Albert O Edwards
Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration.
American journal of human genetics 2008;82(1):174-80.
2008: Debasish Sinha; Andrew Klise; Yuri V Sergeev; Stacey Hose; Imran A Bhutto; Laszlo Hackler; Tanya Malpic-Llanos; Sonia Samtani; Rhonda Grebe; Morton F Goldberg; J Fielding Hejtmancik; Avindra Nath; Donald J Zack; Robert Fariss; D Scott McLeod; Olof H Sundin; Karl W Broman; Gerard A Lutty; J. SAMUEL ZIGLER
betaA3/A1-crystallin in astroglial cells regulates retinal vascular remodeling during development.
Molecular and cellular neurosciences 2008;37(1):85-95.
2007: Qingjiong Zhang; Fareeha Zulfiqar; Xueshan Xiao; Sheikh Amer Riazuddin; Zahoor Ahmad; Raphael Caruso; Ian MacDonald; Paul Sieving; Sheikh Riazuddin; J Fielding Hejtmancik
Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene.
Human genetics 2007;122(3-4):293-9.
2007: Lars Hansen; Wenliang Yao; Hans Eiberg; Klaus Wilbrandt Kjaer; Kirsten Baggesen; J Fielding Hejtmancik; Thomas Rosenberg
Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.
Investigative ophthalmology & visual science 2007;48(9):3937-44.
2007: Brian P Brooks; Denise M Larson; Chi-Chao Chan; Sten Kjellstrom; Richard S Smith; Mary A Crawford; Lynn Lamoreux; Marjan Huizing; Richard Hess; Xiaodong Jiao; J Fielding Hejtmancik; Arvydas Maminishkis; Simon W M John; Ronald Bush; William J Pavan
Analysis of ocular hypopigmentation in Rab38cht/cht mice.
Investigative ophthalmology & visual science 2007;48(9):3905-13.
2007: Ramya Devi Ramachandran; Vijayalakshmi Perumalsamy; J Fielding Hejtmancik
Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.
Human genetics 2007;121(3-4):475-82.
2007: Alan Shiels; J Fielding Hejtmancik
Genetic origins of cataract.
Archives of ophthalmology 2007;125(2):165-73.
2007: Hui Lin; J Fielding Hejtmancik; Yanhua Qi
A substitution of arginine to lysine at the COOH-terminus of MIP caused a different binocular phenotype in a congenital cataract family.
Molecular vision 2007;13():1822-7.
2007: Tariq Butt; Wenliang Yao; Haiba Kaul; Jiao Xiaodong; Libe Gradstein; Yan Zhang; Tayyab Husnain; Sheikh Riazuddin; J Fielding Hejtmancik; Sheikh Amer Riazuddin
Localization of autosomal recessive congenital cataracts in consanguineous Pakistani families to a new locus on chromosome 1p.
Molecular vision 2007;13():1635-40.
2007: Qingjiong Zhang; Xueshan Xiao; Shiqiang Li; Xiaoyun Jia; Zhikuan Yang; Shizhou Huang; Rafael C Caruso; Tianqin Guan; Yuri V Sergeev; Xiangming Guo; J Fielding Hejtmancik
Mutations in NYX of individuals with high myopia, but without night blindness.
Molecular vision 2007;13():330-6.
2007: Xiaodong Jiao; Afia Sultana; Prashant Garg; Balasubramanya Ramamurthy; Geeta K Vemuganti; Nibaran Gangopadhyay; J Fielding Hejtmancik; Chitra Kannabiran
Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11.
Journal of medical genetics 2007;44(1):64-8.
2006: E Pras; O Mahler; V Kumar; Moshe Frydman; N Gefen; E Pras; J Fielding Hejtmancik
A new locus for autosomal dominant posterior polar cataract in Moroccan Jews maps to chromosome 14q22-23.
Journal of medical genetics 2006;43(10):e50.
2006: Nizar Smaoui; Mohamed Chaabouni; Yuri V Sergeev; Habib Kallel; Shouling Li; Neila Mahfoudh; Faouzi Maazoul; Hassen Kammoun; Najoua Gandoura; Asma Bouaziz; Ezzedine Nouiri; Ridha M'Rad; Habiba Chaabouni; J Fielding Hejtmancik
Screening of the eight BBS genes in Tunisian families: no evidence of triallelism.
Investigative ophthalmology & visual science 2006;47(8):3487-95.
2006: Daphna Sagher; David Brunell; J Fielding Hejtmancik; Marc Kantorow; Nathan Brot; Herbert Weissbach
Thionein can serve as a reducing agent for the methionine sulfoxide reductases.
Proceedings of the National Academy of Sciences of the United States of America 2006;103(23):8656-61.
2006: Hardeep Pal Singh; Subhadra Jalali; J Fielding Hejtmancik; Chitra Kannabiran
Homozygous null mutations in the ABCA4 gene in two families with autosomal recessive retinal dystrophy.
American journal of ophthalmology 2006;141(5):906-13.
2006: Sheikh Amer Riazuddin; Fareeha Zulfiqar; Qingjiong Zhang; Wenliang Yao; Shouling Li; Xiaodong Jiao; Amber Shahzadi; MUHAMMAD AMER; Muhammad Iqbal; Tayyab Hussnain; Paul Sieving; Sheikh Riazuddin; J Fielding Hejtmancik
Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families.
Molecular vision 2006;12():1283-91.
2006: Lars Hansen; Wenliang Yao; Hans Eiberg; Mikkel Funding; Ruth Riise; Klaus Wilbrandt Kjaer; J Fielding Hejtmancik; Thomas Rosenberg
The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46.
Molecular vision 2006;12():1033-9.
2006: Xiangming Guo; Huangxuan Shen; Xueshan Xiao; Qilin Dai; Shiqiang Li; Xiaoyun Jia; J Fielding Hejtmancik; Qingjiong Zhang
Cataracts, ataxia, short stature, and mental retardation in a Chinese family mapped to Xpter-q13.1.
Journal of human genetics 2006;51(8):695-700.
2006: Wenliang Yao; Xiaodong Jiao; J Fielding Hejtmancik; M Cristina Leske; Anselm Hennis; Barbara Nemesure
Evaluation of the association between OPA1 polymorphisms and primary open-angle glaucoma in Barbados families.
Molecular vision 2006;12():649-54.
2006: Vanita Vanita; Jai Rup Singh; J Fielding Hejtmancik; Peter Nuernberg; Hans Christian Hennies; Daljit Singh; Karl Sperling
A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family.
Molecular vision 2006;12():518-22.
2006: Vanita Vanita; J Fielding Hejtmancik; Hans Christian Hennies; Kamlesh Guleria; Peter Nürnberg; Daljit Singh; Karl Sperling; Jai Rup Singh
Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian origin.
Molecular vision 2006;12():93-9.
2005: Qingjiong Zhang; Fareeha Zulfiqar; Xueshan Xiao; Sheikh Amer Riazuddin; Radha Ayyagari; Farooq Sabar; Raphael Caruso; Paul Sieving; Sheikh Riazuddin; J Fielding Hejtmancik
Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3-p21.2 between D1S2896 and D1S457 but outside ABCA4.
Human genetics 2005;118(3-4):356-65.
2005: Yuri V Sergeev; Lev V Soustov; Eugene V Chelnokov; Nikita M Bityurin; Peter S Backlund; Paul T Wingfield; Mikhail A Ostrovsky; J Fielding Hejtmancik
Increased sensitivity of amino-arm truncated betaA3-crystallin to UV-light-induced photoaggregation.
Investigative ophthalmology & visual science 2005;46(9):3263-73.
2005: Sheikh Amer Riazuddin; Fareeha Zulfiqar; Qingjiong Zhang; Yuri V Sergeev; Zaheeruddin A Qazi; Tayyab Husnain; Raphael Caruso; Sheikh Riazuddin; Paul Sieving; J Fielding Hejtmancik
Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.
Investigative ophthalmology & visual science 2005;46(7):2264-70.
2005: Shouling Li; Leila Tiab; Xiaodong Jiao; Francis L Munier; Leonidas Zografos; Beatrice E Frueh; Yuri V Sergeev; Janine Smith; Benjamin Rubin; Mario A Meallet; Richard K Forster; J Fielding Hejtmancik; Daniel F Schorderet
Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy.
American journal of human genetics 2005;77(1):54-63.
2005: Maria A Marchetti; Gresin O Pizarro; Daphna Sagher; Candida Deamicis; Nathan Brot; J Fielding Hejtmancik; Herbert Weissbach; Marc Kantorow
Methionine sulfoxide reductases B1, B2, and B3 are present in the human lens and confer oxidative stress resistance to lens cells.
Investigative ophthalmology & visual science 2005;46(6):2107-12.
2005: Sheikh Amer Riazuddin; Afshan Yasmeen; Wenliang Yao; Yuri V Sergeev; Qingjiong Zhang; Fareeha Zulfiqar; Assad Riaz; Sheikh Riazuddin; J Fielding Hejtmancik
Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families.
Investigative ophthalmology & visual science 2005;46(6):2100-6.
2005: Xiao Mei Ouyang; Denise Yan; Li Lin Du; J Fielding Hejtmancik; Samuel G Jacobson; Walter E Nance; An Ren Li; Simon I Angeli; Muriel Kaiser; Valerie Newton; Steve D M Brown; Thomas J Balkany; Xue Zhong Liu
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.
Human genetics 2005;116(4):292-9.
2005: Sheikh Amer Riazuddin; Afshan Yasmeen; Qingjiong Zhang; Wenliang Yao; Muhammad Farooq Sabar; Zahoor Ahmed; Sheikh Riazuddin; J Fielding Hejtmancik
A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family.
Investigative ophthalmology & visual science 2005;46(2):623-6.
2005: Qingjiong Zhang; Fareeha Zulfiqar; Sheikh Amer Riazuddin; Xueshan Xiao; Afshan Yasmeen; Peter K Rogan; Raphael Caruso; Paul Sieving; Sheikh Riazuddin; J Fielding Hejtmancik
A variant form of Oguchi disease mapped to 13q34 associated with partial deletion of GRK1 gene.
Molecular vision 2005;11():977-85.
2005: Qingjiong Zhang; Xiangming Guo; Xueshan Xiao; Xiaoyun Jia; Shiqiang Li; J Fielding Hejtmancik
A new locus for autosomal dominant high myopia maps to 4q22-q27 between D4S1578 and D4S1612.
Molecular vision 2005;11():554-60.
2004: J Fielding Hejtmancik; Paul T Wingfield; Yuri V Sergeev
Beta-crystallin association.
Experimental eye research 2004;79(6):377-83.
2004: John Hawse; J Fielding Hejtmancik; Joseph Horwitz; Marc Kantorow
Identification and functional clustering of global gene expression differences between age-related cataract and clear human lenses and aged human lenses.
Experimental eye research 2004;79(6):935-40.
2004: Xiaodong Jiao; Robert Ritter; J Fielding Hejtmancik; Albert O Edwards
Genetic linkage of snowflake vitreoretinal degeneration to chromosome 2q36.
Investigative ophthalmology & visual science 2004;45(12):4498-503.
2004: Qingjiong Zhang; Xiangming Guo; Xueshan Xiao; Junhui Yi; Xiaoyun Jia; J Fielding Hejtmancik
Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family.
Molecular vision 2004;10():890-900.
2004: Qingjiong Zhang; Fareeha Zulfiqar; Sheikh Amer Riazuddin; Xueshan Xiao; Zahoor Ahmad; Sheikh Riazuddin; J Fielding Hejtmancik
Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.
Molecular vision 2004;10():884-9.
2004: Xiaodong Jiao; Valerio Ventruto; Michael T Trese; Barkur S Shastry; J Fielding Hejtmancik
Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.
American journal of human genetics 2004;75(5):878-84.
2004: J Fielding Hejtmancik; Paul T Wingfield; Yuri V Sergeev
Beta-crystallin association.
Experimental eye research 2004;79(3):377-83.
2004: Nizar Smaoui; Omar Beltaief; Sonia BenHamed; Ridha M'Rad; Faouzi Maazoul; Amel Ouertani; Habiba Chaabouni; J Fielding Hejtmancik
A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract.
Investigative ophthalmology & visual science 2004;45(8):2716-21.
2004: J Fielding Hejtmancik; Marc Kantorow
Molecular genetics of age-related cataract.
Experimental eye research 2004;79(1):3-9.
2004: Marc Kantorow; John Hawse; Tracy L Cowell; Sonia Benhamed; Gresin O Pizarro; Venkat N Reddy; J Fielding Hejtmancik
Methionine sulfoxide reductase A is important for lens cell viability and resistance to oxidative stress.
Proceedings of the National Academy of Sciences of the United States of America 2004;101(26):9654-9.
2004: Elon Pras; Judith Raz; Vered Yahalom; Moshe Frydman; Hanna J Garzozi; Elon Pras; J Fielding Hejtmancik
A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts.
Investigative ophthalmology & visual science 2004;45(6):1940-5.
2004: Anren Li; Xiaodong Jiao; Francis L Munier; Daniel F Schorderet; Wenliang Yao; Fumino Iwata; Mutsuko Hayakawa; Atsushi Kanai; Muh Shy Chen; Richard Alan Lewis; John R Heckenlively; Richard G Weleber; Elias Traboulsi; Qingjiong Zhang; Xueshan Xiao; Muriel I Kaiser-Kupfer; Yuri V Sergeev; J Fielding Hejtmancik
Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.
American journal of human genetics 2004;74(5):817-26.
2004: Xiao Mei Ouyang; Denise Yan; J Fielding Hejtmancik; S G Jacobson; A R Li; Li Lin Du; Simon I Angeli; M Kaiser; Thomas J Balkany; Xue Zhong Liu
Mutational spectrum in Usher syndrome type II.
Clinical genetics 2004;65(4):288-93.
2004: Yuri V Sergeev; J Fielding Hejtmancik; Paul T Wingfield
Energetics of domain-domain interactions and entropy driven association of beta-crystallins.
Biochemistry 2004;43(2):415-24.
2003: John Hawse; J Fielding Hejtmancik; Quingling Huang; Nancy L Sheets; Douglas A Hosack; Richard A Lempicki; Joseph Horwitz; Marc Kantorow
Identification and functional clustering of global gene expression differences between human age-related cataract and clear lenses.
Molecular vision 2003;9():515-37.
2003: Giovanni Maraini; J Fielding Hejtmancik; Alan Shiels; Mackay Donna; Raffaella Aldigeri; Xiao D Jiao; Sally L Williams; Robert D Sperduto; George Reed
Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population.
Molecular vision 2003;9():397-400.
2003: Xiaodong Jiao; Francis L Munier; Daniel F Schorderet; Leonidas Zografos; Janine Smith; Benjamin Rubin; J Fielding Hejtmancik
Genetic linkage of Francois-Neetens fleck (mouchetée) corneal dystrophy to chromosome 2q35.
Human genetics 2003;112(5-6):593-9.
2003: Xiao Mei Ouyang; J Fielding Hejtmancik; S G Jacobson; Xia Juan Xia; A Li; Li Lin Du; V Newton; M Kaiser; Thomas J Balkany; Walter E Nance; Xue Zhong Liu
USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele.
Clinical genetics 2003;63(2):150-3.
2003: J Fielding Hejtmancik; Nizar Smaoui
Molecular genetics of cataract.
Developments in ophthalmology 2003;37():67-82.
2002: Zhaoxia Ren; Pei-Yu Lin; Gordon K Klintworth; Fumino Iwata; Francis L Munier; Daniel F Schorderet; Leila El Matri; Veena Theendakara; Surendra Basti; Madhukar Reddy; J Fielding Hejtmancik
Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy.
Human genetics 2002;110(6):568-77.
2002: Nancy L Sheets; Bharesh K Chauhan; Eric F Wawrousek; J Fielding Hejtmancik; Ales Cvekl; Marc Kantorow
Cataract- and lens-specific upregulation of ARK receptor tyrosine kinase in Emory mouse cataract.
Investigative ophthalmology & visual science 2002;43(6):1870-5.
2002: Ekaterini T Tsilou; Benjamin I Rubin; Rafael C Caruso; George F Reed; Anita Pikus; J Fielding Hejtmancik; Fumino Iwata; Joy B Redman; Muriel I Kaiser-Kupfer
Usher syndrome clinical types I and II: could ocular symptoms and signs differentiate between the two types?
Acta ophthalmologica Scandinavica 2002;80(2):196-201.
2002: Mikhail A Ostrovsky; Yuri V Sergeev; D B Atkinson; Lev V Soustov; J Fielding Hejtmancik
Comparison of ultraviolet induced photo-kinetics for lens-derived and recombinant beta-crystallins.
Molecular vision 2002;8():72-8.
2001: J Lee; Xiaodong Jiao; J Fielding Hejtmancik; Muriel I Kaiser-Kupfer; William A Gahl; T C Markello; J Guo; Gerald J Chader
The metabolism of fatty acids in human Bietti crystalline dystrophy.
Investigative ophthalmology & visual science 2001;42(8):1707-14.
2000: Yuri V Sergeev; Paul T Wingfield; J Fielding Hejtmancik
Monomer-dimer equilibrium of normal and modified beta A3-crystallins: experimental determination and molecular modeling.
Biochemistry 2000;39(51):15799-806.
2000: Xiaodong Jiao; Francis L Munier; Fumino Iwata; M Hayakawa; Atsushi Kanai; J Lee; Daniel F Schorderet; M S Chen; Muriel I Kaiser-Kupfer; J Fielding Hejtmancik
Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35.
American journal of human genetics 2000;67(5):1309-13.
2000: Z Ren; A Li; B S Shastry; T Padma; R Ayyagari; M H Scott; M M Parks; Muriel I Kaiser-Kupfer; J Fielding Hejtmancik
A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract.
Human genetics 2000;106(5):531-7.
1998: Gordon K Klintworth; J R Sommer; G Obrian; L Han; Mohamed Ahmed; Mazin B Qumsiyeh; P Y Lin; Surendra Basti; M K Reddy; Atsushi Kanai; Y Hotta; Joel Sugar; Govindasamy Kumaramanickavel; F Munier; Daniel F Schorderet; Leila El Matri; Fumino Iwata; Muriel I Kaiser-Kupfer; M Nagata; K Nakayasu; J Fielding Hejtmancik; C T Teng
Familial subepithelial corneal amyloidosis (gelatinous drop-like corneal dystrophy): exclusion of linkage to lactoferrin gene.
Molecular vision 1998;4():31.
1998: Chitra Kannabiran; P K Rogan; L Olmos; Surendra Basti; G N Rao; Muriel I Kaiser-Kupfer; J Fielding Hejtmancik
Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene.
Molecular vision 1998;4():21.
1998: J Lee; Xiaodong Jiao; J Fielding Hejtmancik; Muriel I Kaiser-Kupfer; Gerald J Chader
Identification, isolation, and characterization of a 32-kDa fatty acid-binding protein missing from lymphocytes in humans with Bietti crystalline dystrophy (BCD).
Molecular genetics and metabolism 1998;65(2):143-54.
1998: Albert O Edwards; Michael L Klein; C B Berselli; J Fielding Hejtmancik; Kristal Rust; Mary K Wirtz; Richard G Weleber; Ted S Acott
Malattia leventinese: refinement of the genetic locus and phenotypic variability in autosomal dominant macular drusen.
American journal of ophthalmology 1998;126(3):417-24.
1998: Yuri V Sergeev; Larry L David; H C Chen; John N Hope; J Fielding Hejtmancik
Local microdomain structure in the terminal extensions of betaA3- and betaB2-crystallins.
Molecular vision 1998;4():9.
1997: J Fielding Hejtmancik; Paul T Wingfield; C Chambers; Paul Russell; H C Chen; Yuri V Sergeev; John N Hope
Association properties of betaB2- and betaA3-crystallin: ability to form dimers.
Protein engineering 1997;10(11):1347-52.
1996: Sigrid Wayne; Vazken M Der Kaloustian; Melvin D Schloss; R Polomeno; Daryl A Scott; J Fielding Hejtmancik; Val C Sheffield; Richard J H Smith
Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10.
Human molecular genetics 1996;5(10):1689-92.
1996: R Ayyagari; A Nestorowicz; Y Li; Settara C Chandrasekharappa; C Chinault; P van Tuinen; Richard J H Smith; J Fielding Hejtmancik; M A Permutt
Construction of a YAC contig encompassing the Usher syndrome type 1C and familial hyperinsulinism loci on chromosome 11p14-15.1.
Genome research 1996;6(6):504-14.
1996: Surendra Basti; J Fielding Hejtmancik; T Padma; R Ayyagari; Muriel I Kaiser-Kupfer; J S Murty; Gullapalli N Rao
Autosomal dominant zonular cataract with sutural opacities in a four-generation family.
American journal of ophthalmology 1996;121(2):162-8.
1995: R Ayyagari; Y Li; Richard J H Smith; Mary Z Pelias; J Fielding Hejtmancik
Fine mapping of the usher syndrome type IC to chromosome 11p14 and identification of flanking markers by haplotype analysis.
Molecular vision 1995;1():2.
1995: T Padma; R Ayyagari; J S Murty; Surendra Basti; T Fletcher; Gullapalli N Rao; Muriel I Kaiser-Kupfer; J Fielding Hejtmancik
Autosomal dominant zonular cataract with sutural opacities localized to chromosome 17q11-12.
American journal of human genetics 1995;57(4):840-5.
1994: Jeffrey A Towbin; Hua Li; R T Taggart; Michael H Lehmann; P J Schwartz; Carol Satler; R Ayyagari; Jennifer L Robinson; A Moss; J Fielding Hejtmancik
Evidence of genetic heterogeneity in Romano-Ward long QT syndrome. Analysis of 23 families.
Circulation 1994;90(6):2635-44.
1994: John N Hope; H C Chen; J Fielding Hejtmancik
Aggregation of beta A3-crystallin is independent of the specific sequence of the domain connecting peptide.
The Journal of biological chemistry 1994;269(33):21141-5.
1994: John N Hope; H C Chen; J Fielding Hejtmancik
Beta A3/A1-crystallin association: role of the N-terminal arm.
Protein engineering 1994;7(3):445-51.
1994: Richard J H Smith; C I Berlin; J Fielding Hejtmancik; Bronya J B Keats; W J Kimberling; R A Lewis; C G Möller; Mary Z Pelias; L Tranebjaerg
Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium.
American journal of medical genetics 1994;50(1):32-8.
1993: Jeffrey A Towbin; J Fielding Hejtmancik; P Brink; B Gelb; X M Zhu; Jeffrey S Chamberlain; Edward RB McCabe; M Swift
X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus.
Circulation 1993;87(6):1854-65.
1992: J Fielding Hejtmancik; S Black; S Harris; P A Ward; C Callaway; David Ledbetter; J Morris; S H Leech; M S Pollack
Congenital 21-hydroxylase deficiency as a new deletion mutation. Detection in a proband during subsequent prenatal diagnosis by HLA typing and DNA analysis.
Human immunology 1992;35(4):246-52.
1992: Bronya J B Keats; A A Todorov; Larry D Atwood; Mary Z Pelias; J Fielding Hejtmancik; W J Kimberling; M Leppert; Richard Alan Lewis; Richard J H Smith
Linkage studies of Usher syndrome type 1: exclusion results from the Usher syndrome consortium.
Genomics 1992;14(3):707-14.
1992: Tetsuo Ashizawa; C J Dunne; J R Dubel; M Benjamin Perryman; Henry F Epstein; E Boerwinkle; J Fielding Hejtmancik
Anticipation in myotonic dystrophy. I. Statistical verification based on clinical and haplotype findings.
Neurology 1992;42(10):1871-7.
1992: Richard J H Smith; Mary Z Pelias; Stephen P Daiger; Bronya J B Keats; W Kimberling; J Fielding Hejtmancik
Clinical variability and genetic heterogeneity within the Acadian Usher population.
American journal of medical genetics 1992;43(6):964-9.
1992: B Müller; C Dechant; G Meng; S Liechti-Gallati; R A Doherty; J Fielding Hejtmancik; Egbert Bakker; A P Read; Marc Jeanpierre; Kenneth H Fischbeck
Estimation of the male and female mutation rates in Duchenne muscular dystrophy (DMD).
Human genetics 1992;89(2):204-6.
1992: Tetsuo Ashizawa; J Fielding Hejtmancik; J Liu; M Benjamin Perryman; Henry F Epstein; D D Koch
Diagnostic value of ophthalmologic findings in myotonic dystrophy: comparison with risks calculated by haplotype analysis of closely linked restriction fragment length polymorphisms.
American journal of medical genetics 1992;42(1):55-60.
1991: T H Huang; J Fielding Hejtmancik; A Edwards; A L Pettigrew; C A Herrera; H A Hammond; CT Caskey; Huda Y Zoghbi; David Ledbetter
Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26).
American journal of human genetics 1991;49(6):1312-9.
1991: J R Dubel; R Finwick; J Fielding Hejtmancik
Denaturing gradient gel electrophoresis of the alpha 1-antitrypsin gene: application to prenatal diagnosis.
American journal of medical genetics 1991;41(1):39-43.
1991: A Mares; Susan Airhart; David Ledbetter; Robert Roberts; J Fielding Hejtmancik
Isolation of a human chromosome 14-only somatic cell hybrid: analysis using Alu and LINE-based PCR.
Genomics 1991;11(1):215-8.
1991: J Fielding Hejtmancik; P A Brink; Jeffrey A Towbin; Rita Hill; L Brink; T Tapscott; A Trakhtenbroit; Robert Roberts
Localization of gene for familial hypertrophic cardiomyopathy to chromosome 14q1 in a diverse US population.
Circulation 1991;83(5):1592-7.
1989: D L Friedman; J Fielding Hejtmancik; John N Hope; M Benjamin Perryman
Developmental expression of creatine kinase isozymes in mammalian lens.
Experimental eye research 1989;49(3):445-57.
1989: J Fielding Hejtmancik; J D Holcomb; J Howard; M Vanderford
In vitro amplification of the alpha 1-antitrypsin gene: application to prenatal diagnosis.
Prenatal diagnosis 1989;9(3):177-86.
1989: D C Jinks; M Minter; D A Tarver; M Vanderford; J Fielding Hejtmancik; E R McCabe
Molecular genetic diagnosis of sickle cell disease using dried blood specimens on blotters used for newborn screening.
Human genetics 1989;81(4):363-6.
1989: P A Ward; J Fielding Hejtmancik; J A Witkowski; Lisa Baumbach; S Gunnell; J Speer; P Hawley; U Tantravahi; CT Caskey
Prenatal diagnosis of Duchenne muscular dystrophy: prospective linkage analysis and retrospective dystrophin cDNA analysis.
American journal of human genetics 1989;44(2):270-81.
1989: Richard J H Smith; J D Holcomb; Stephen P Daiger; C T Caskey; Mary Z Pelias; B R Alford; D D Fontenot; J Fielding Hejtmancik
Exclusion of Usher syndrome gene from much of chromosome 4.
Cytogenetics and cell genetics 1989;50(2-3):102-6.
1989: J D Chen; J Fielding Hejtmancik; Giovanni Romeo; M Lindlof; Corinne D Boehm; C T Caskey; W Kress; Kenneth H Fischbeck; M Dreier; S Serravalle
A genetic linkage map of five marker loci in and around the Duchenne muscular dystrophy locus.
Genomics 1989;4(1):105-9.
1988: M Benjamin Perryman; J Fielding Hejtmancik; Tetsuo Ashizawa; R Armstrong; S C Lin; Robert Roberts; Henry F Epstein
NcoI and TaqI RFLPs for human M creatine kinase (CKM)
Nucleic acids research 1988;16(17):8744.
1988: J E Spence; R G Perciaccante; G M Greig; H F Willard; David Ledbetter; J Fielding Hejtmancik; M S Pollack; William E O'Brien; Arthur L Beaudet
Uniparental disomy as a mechanism for human genetic disease.
American journal of human genetics 1988;42(2):217-26.
1986: Kenneth H Fischbeck; A W Ritter; D L Tirschwell; Louis Kunkel; C J Bertelson; Anthony P Monaco; J Fielding Hejtmancik; Corinne D Boehm; V Ionasescu; R Ionasescu
Recombination with pERT87 (DXS164) in families with X-linked muscular dystrophy.
Lancet 1986;2(8498):104.
1986: Louis Kunkel; J Fielding Hejtmancik; C T Caskey; Astrid Speer; Anthony P Monaco; W Middlesworth; C A Colletti; C Bertelson; U Müller; M Bresnan; F Shapiro; U Tantravahi; J Speer; S A Latt; R Bartlett; Margaret Pericak-Vance; Allen D Roses; M W Thompson; P N Ray; R G Worton; Kenneth H Fischbeck; Pía Gallano; M Coulon; C Duros; J Boue; Claudine Junien; Jamel Chelly; G Hamard; Marc Jeanpierre; M Lambert; Jean-Claude Kaplan; A Emery; H Dorkins; S McGlade; Kay E Davies; Corinne D Boehm; B Arveiler; C Lemaire; G J Morgan; M J Denton; J Amos; Martin Bobrow; F Benham; E Boswinkel; C Cole; Victor Dubowitz; K Hart; S Hodgson; L Johnson; A Walker; L Roncuzzi; Alessandra Ferlini; C Nobile; Giovanni Romeo; D E Wilcox; N A Affara; M A Ferguson-Smith; M Lindolf; H Kaariainen; A de la Chapelle; V Ionasescu; Charles C Searby; R Ionasescu; Egbert Bakker; Gert-Jan B van Ommen; P L Pearson; Cheryl R Greenberg; J L Hamerton; Klaus Wrogemann; R A Doherty; R Polakowska; C Hyser; S Quirk; N Thomas; Jeffrey F Harper; B T Darras; U Francke
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.
Nature 1986;322(6074):73-7.