Literature DB >> 2571565

X-linked megalocornea: close linkage to DXS87 and DXS94.

J D Chen1, D Mackey, H Fuller, S Serravalle, J Olsson, M J Denton.   

Abstract

In a family in which X-linked megalocornea is segregating, the disease locus was found to be closely linked to DXS87 (zeta max = 3.91, theta max = 0.00) and DXS94 (zeta max = 3.34, theta max = 0.00) in Xq21.3-q22.

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Year:  1989        PMID： 2571565     DOI： 10.1007/BF00285176

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  3 in total

1.  Analysis of linkage relationships of X-linked retinitis pigmentosa with the following Xp loci: L1.28, OTC, 754, XJ-1.1, pERT87, and C7.

Authors:  M J Denton; J D Chen; S Serravalle; P Colley; F B Halliday; J Donald
Journal:  Hum Genet       Date:  1988-01       Impact factor: 4.132

2.  Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

Authors:  J Ott
Journal:  Am J Hum Genet       Date:  1974-09       Impact factor: 11.025

3.  Report of the committee on human gene mapping by recombinant DNA techniques.

Authors:  K K Kidd; A M Bowcock; P L Pearson; J Schmidtke; H F Willard; R K Track; F Ricciuti
Journal:  Cytogenet Cell Genet       Date:  1988
  3 in total
  7 in total

1.  Isolation of DNTR polymorphisms from yeast artificial chromosomes encompassing X chromosomal loci PGK1 and DXS56.

Authors:  M B Graeber; A P Monaco; J Chelly; U Müller
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132

2.  X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.

Authors:  Tom R Webb; Mar Matarin; Jessica C Gardner; Dan Kelberman; Hala Hassan; Wei Ang; Michel Michaelides; Jonathan B Ruddle; Craig E Pennell; Seyhan Yazar; Chiea C Khor; Tin Aung; Mahinda Yogarajah; Anthony G Robson; Graham E Holder; Michael E Cheetham; Elias I Traboulsi; Anthony T Moore; Jane C Sowden; Sanjay M Sisodiya; David A Mackey; Stephen J Tuft; Alison J Hardcastle
Journal:  Am J Hum Genet       Date:  2012-01-26       Impact factor: 11.025

3.  Megalocornea. Clinical and genetic aspects.

Authors:  F M Meire
Journal:  Doc Ophthalmol       Date:  1994       Impact factor: 2.379

4.  Biometry in X linked megalocornea: pathognomonic findings.

Authors:  F M Meire; J W Delleman
Journal:  Br J Ophthalmol       Date:  1994-10       Impact factor: 4.638

5.  Genomic analyses in African populations identify novel risk loci for cleft palate.

Authors:  Azeez Butali; Peter A Mossey; Wasiu L Adeyemo; Mekonen A Eshete; Lord J J Gowans; Tamara D Busch; Deepti Jain; Wenjie Yu; Liu Huan; Cecelia A Laurie; Cathy C Laurie; Sarah Nelson; Mary Li; Pedro A Sanchez-Lara; William P Magee; Kathleen S Magee; Allyn Auslander; Frederick Brindopke; Denise M Kay; Michele Caggana; Paul A Romitti; James L Mills; Rosemary Audu; Chika Onwuamah; Ganiyu O Oseni; Arwa Owais; Olutayo James; Peter B Olaitan; Babatunde S Aregbesola; Ramat O Braimah; Fadekemi O Oginni; Ayodeji O Oladele; Saidu A Bello; Jennifer Rhodes; Rita Shiang; Peter Donkor; Solomon Obiri-Yeboah; Fareed Kow Nanse Arthur; Peter Twumasi; Pius Agbenorku; Gyikua Plange-Rhule; Alexander Acheampong Oti; Olugbenga M Ogunlewe; Afisu A Oladega; Adegbayi A Adekunle; Akinwunmi O Erinoso; Olatunbosun O Adamson; Abosede A Elufowoju; Oluwanifemi I Ayelomi; Taiye Hailu; Abiye Hailu; Yohannes Demissie; Miliard Derebew; Steve Eliason; Miguel Romero-Bustillous; Cynthia Lo; James Park; Shaan Desai; Muiawa Mohammed; Firke Abate; Lukman O Abdur-Rahman; Deepti Anand; Irfaan Saadi; Abimibola V Oladugba; Salil A Lachke; Brad A Amendt; Charles N Rotimi; Mary L Marazita; Robert A Cornell; Jeffrey C Murray; Adebowale A Adeyemo
Journal:  Hum Mol Genet       Date:  2019-03-15       Impact factor: 6.150

Review 6.  Ocular findings and genomics of X-linked recessive disorders: A review.

Authors:  Asima Hassan; Yaser R Mir; Raja A H Kuchay
Journal:  Indian J Ophthalmol       Date:  2022-07       Impact factor: 2.969

7.  Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness.

Authors:  Alice E Davidson; Sek-Shir Cheong; Pirro G Hysi; Cristina Venturini; Vincent Plagnol; Jonathan B Ruddle; Hala Ali; Nicole Carnt; Jessica C Gardner; Hala Hassan; Else Gade; Lisa Kearns; Anne Marie Jelsig; Marie Restori; Tom R Webb; David Laws; Michael Cosgrove; Jens M Hertz; Isabelle Russell-Eggitt; Daniela T Pilz; Christopher J Hammond; Stephen J Tuft; Alison J Hardcastle
Journal:  PLoS One       Date:  2014-08-05       Impact factor: 3.240
  7 in total

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