共 7 条
[1]
Deleterious mutations in the zinc-finger 469 gene cause brittle cornea syndrome
[J].
Abu, Almogit
;
Frydman, Moshe
;
Marek, Dina
;
Pras, Eran
;
Nir, Uri
;
Reznik-Wolf, Haike
;
Pras, Elon
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2008, 82 (05)
:1217-1222

Abu, Almogit
论文数: 0 引用数: 0
h-index: 0
机构:
Chaim Sheba Med Ctr, Danek Gertner Inst Human Genet, IL-52621 Tel Hashomer, Israel
Bar Ilan Univ, Mina & Everard Goodman Fac Life Sci, IL-52900 Ramat Gan, Israel Chaim Sheba Med Ctr, Danek Gertner Inst Human Genet, IL-52621 Tel Hashomer, Israel

Frydman, Moshe
论文数: 0 引用数: 0
h-index: 0
机构:
Chaim Sheba Med Ctr, Danek Gertner Inst Human Genet, IL-52621 Tel Hashomer, Israel
Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel Chaim Sheba Med Ctr, Danek Gertner Inst Human Genet, IL-52621 Tel Hashomer, Israel

Marek, Dina
论文数: 0 引用数: 0
h-index: 0
机构:
Chaim Sheba Med Ctr, Danek Gertner Inst Human Genet, IL-52621 Tel Hashomer, Israel
Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel Chaim Sheba Med Ctr, Danek Gertner Inst Human Genet, IL-52621 Tel Hashomer, Israel

Pras, Eran
论文数: 0 引用数: 0
h-index: 0
机构:
Assaf Harofeh Med Ctr, Dept Ophthalmol, IL-70300 Zerifin, Israel
Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel Chaim Sheba Med Ctr, Danek Gertner Inst Human Genet, IL-52621 Tel Hashomer, Israel

Nir, Uri
论文数: 0 引用数: 0
h-index: 0
机构:
Bar Ilan Univ, Mina & Everard Goodman Fac Life Sci, IL-52900 Ramat Gan, Israel Chaim Sheba Med Ctr, Danek Gertner Inst Human Genet, IL-52621 Tel Hashomer, Israel

Reznik-Wolf, Haike
论文数: 0 引用数: 0
h-index: 0
机构:
Chaim Sheba Med Ctr, Danek Gertner Inst Human Genet, IL-52621 Tel Hashomer, Israel Chaim Sheba Med Ctr, Danek Gertner Inst Human Genet, IL-52621 Tel Hashomer, Israel

Pras, Elon
论文数: 0 引用数: 0
h-index: 0
机构:
Chaim Sheba Med Ctr, Danek Gertner Inst Human Genet, IL-52621 Tel Hashomer, Israel
Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel Chaim Sheba Med Ctr, Danek Gertner Inst Human Genet, IL-52621 Tel Hashomer, Israel
[2]
A novel mutation in PRDM5 in brittle cornea syndrome
[J].
Aldahmesh, M. A.
;
Mohamed, J. Y.
;
Alkuraya, F. S.
.
CLINICAL GENETICS,
2012, 81 (02)
:198-199

Aldahmesh, M. A.
论文数: 0 引用数: 0
h-index: 0
机构: King Faisal Specialist Hosp & Res Ctr, Dept Genet, Dev Genet Unit, Riyadh 11211, Saudi Arabia

Mohamed, J. Y.
论文数: 0 引用数: 0
h-index: 0
机构: King Faisal Specialist Hosp & Res Ctr, Dept Genet, Dev Genet Unit, Riyadh 11211, Saudi Arabia

Alkuraya, F. S.
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Genet, Dev Genet Unit, Riyadh 11211, Saudi Arabia
King Saud Univ, King Khalid Univ Hosp, Dept Pediat, Riyadh, Saudi Arabia
King Saud Univ, Coll Med, Riyadh 11461, Saudi Arabia
Alfaisal Univ, Coll Med, Dept Anat & Cell Biol, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Genet, Dev Genet Unit, Riyadh 11211, Saudi Arabia
[3]
ARTICULAR MOBILITY IN AN AFRICAN POPULATION
[J].
BEIGHTON, P
;
SOLOMON, L
;
SOSKOLNE, CL
.
ANNALS OF THE RHEUMATIC DISEASES,
1973, 32 (05)
:413-418

BEIGHTON, P
论文数: 0 引用数: 0
h-index: 0
机构:
UNIV WITWATERSRAND,DEPT ORTHOPAEDIC SURG,WITWATERSRAND,SOUTH AFRICA UNIV WITWATERSRAND,DEPT ORTHOPAEDIC SURG,WITWATERSRAND,SOUTH AFRICA

SOLOMON, L
论文数: 0 引用数: 0
h-index: 0
机构:
UNIV WITWATERSRAND,DEPT ORTHOPAEDIC SURG,WITWATERSRAND,SOUTH AFRICA UNIV WITWATERSRAND,DEPT ORTHOPAEDIC SURG,WITWATERSRAND,SOUTH AFRICA

SOSKOLNE, CL
论文数: 0 引用数: 0
h-index: 0
机构:
UNIV WITWATERSRAND,DEPT ORTHOPAEDIC SURG,WITWATERSRAND,SOUTH AFRICA UNIV WITWATERSRAND,DEPT ORTHOPAEDIC SURG,WITWATERSRAND,SOUTH AFRICA
[4]
Brittle Cornea Syndrome Associated with a Missense Mutation in the Zinc-Finger 469 Gene
[J].
Christensen, Anne E.
;
Knappskog, Per M.
;
Midtbo, Marit
;
Gjesdal, Clara G.
;
Mengel-From, Jonas
;
Morling, Niels
;
Rodahl, Eyvind
;
Boman, Helge
.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE,
2010, 51 (01)
:47-52

Christensen, Anne E.
论文数: 0 引用数: 0
h-index: 0
机构:
Haukeland Hosp, Dept Ophthalmol, N-5021 Bergen, Norway
Haukeland Hosp, Ctr Med Genet & Mol Med, N-5021 Bergen, Norway
Univ Bergen, Inst Clin Med, Bergen, Norway Haukeland Hosp, Dept Ophthalmol, N-5021 Bergen, Norway

Knappskog, Per M.
论文数: 0 引用数: 0
h-index: 0
机构:
Haukeland Hosp, Ctr Med Genet & Mol Med, N-5021 Bergen, Norway
Univ Bergen, Inst Clin Med, Bergen, Norway Haukeland Hosp, Dept Ophthalmol, N-5021 Bergen, Norway

Midtbo, Marit
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bergen, Dept Clin Dent Orthodont & Facial Orthoped, Bergen, Norway Haukeland Hosp, Dept Ophthalmol, N-5021 Bergen, Norway

Gjesdal, Clara G.
论文数: 0 引用数: 0
h-index: 0
机构:
Haukeland Hosp, Dept Rheumatol, N-5021 Bergen, Norway Haukeland Hosp, Dept Ophthalmol, N-5021 Bergen, Norway

Mengel-From, Jonas
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Copenhagen, Dept Forens Med, Sect Forens Genet, Copenhagen, Denmark Haukeland Hosp, Dept Ophthalmol, N-5021 Bergen, Norway

Morling, Niels
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Copenhagen, Dept Forens Med, Sect Forens Genet, Copenhagen, Denmark Haukeland Hosp, Dept Ophthalmol, N-5021 Bergen, Norway

Rodahl, Eyvind
论文数: 0 引用数: 0
h-index: 0
机构:
Haukeland Hosp, Dept Ophthalmol, N-5021 Bergen, Norway
Univ Bergen, Inst Clin Med, Bergen, Norway Haukeland Hosp, Dept Ophthalmol, N-5021 Bergen, Norway

Boman, Helge
论文数: 0 引用数: 0
h-index: 0
机构:
Haukeland Hosp, Ctr Med Genet & Mol Med, N-5021 Bergen, Norway
Univ Bergen, Inst Clin Med, Bergen, Norway Haukeland Hosp, Dept Ophthalmol, N-5021 Bergen, Norway
[5]
Conditions that can be Mistaken as Early Childhood Glaucoma
[J].
Khan, Arif O.
.
OPHTHALMIC GENETICS,
2011, 32 (03)
:129-137

Khan, Arif O.
论文数: 0 引用数: 0
h-index: 0
机构:
King Khalid Eye Specialist Hosp, Riyadh 11462, Saudi Arabia King Khalid Eye Specialist Hosp, Riyadh 11462, Saudi Arabia
[6]
Blue Sclera With and Without Corneal Fragility (Brittle Cornea Syndrome) in a Consanguineous Family Harboring ZNF469 Mutation (p.E1392X)
[J].
Khan, Arif O.
;
Aldahmesh, Mohammed A.
;
Mohamed, Jawahir N.
;
Alkuraya, Fowzan S.
.
ARCHIVES OF OPHTHALMOLOGY,
2010, 128 (10)
:1376-1379

Khan, Arif O.
论文数: 0 引用数: 0
h-index: 0
机构:
King Khalid Eye Specialist Hosp, Div Pediat Ophthalmol, Riyadh 11462, Saudi Arabia
King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia King Khalid Eye Specialist Hosp, Div Pediat Ophthalmol, Riyadh 11462, Saudi Arabia

Aldahmesh, Mohammed A.
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia King Khalid Eye Specialist Hosp, Div Pediat Ophthalmol, Riyadh 11462, Saudi Arabia

Mohamed, Jawahir N.
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia King Khalid Eye Specialist Hosp, Div Pediat Ophthalmol, Riyadh 11462, Saudi Arabia

Alkuraya, Fowzan S.
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia
King Saud Univ, Coll Med, Riyadh 11461, Saudi Arabia
King Khalid Univ Hosp, Dept Pediat, Riyadh 11472, Saudi Arabia
Alfaisal Univ, Coll Med, Dept Anat & Cell Biol, Riyadh, Saudi Arabia King Khalid Eye Specialist Hosp, Div Pediat Ophthalmol, Riyadh 11462, Saudi Arabia
[7]
Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance
[J].
Wright, Emma M. M. Burkitt
;
Spencer, Helen L.
;
Daly, Sarah B.
;
Manson, Forbes D. C.
;
Zeef, Leo A. H.
;
Urquhart, Jill
;
Zoppi, Nicoletta
;
Bonshek, Richard
;
Tosounidis, Ioannis
;
Mohan, Meyyammai
;
Madden, Colm
;
Dodds, Annabel
;
Chandler, Kate E.
;
Banka, Siddharth
;
Au, Leon
;
Clayton-Smith, Jill
;
Khan, Naz
;
Biesecker, Leslie G.
;
Wilson, Meredith
;
Rohrbach, Marianne
;
Colombi, Marina
;
Giunta, Cecilia
;
Black, Graeme C. M.
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2011, 88 (06)
:767-777

Wright, Emma M. M. Burkitt
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester M13 9WL, Lancs, England
St Marys Hosp, Cent Manchester Fdn Trust, Manchester M13 9WL, Lancs, England Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester M13 9WL, Lancs, England

Spencer, Helen L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester M13 9WL, Lancs, England
St Marys Hosp, Cent Manchester Fdn Trust, Manchester M13 9WL, Lancs, England Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester M13 9WL, Lancs, England

Daly, Sarah B.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester M13 9WL, Lancs, England
St Marys Hosp, Cent Manchester Fdn Trust, Manchester M13 9WL, Lancs, England Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester M13 9WL, Lancs, England

Manson, Forbes D. C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester M13 9WL, Lancs, England
St Marys Hosp, Cent Manchester Fdn Trust, Manchester M13 9WL, Lancs, England Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester M13 9WL, Lancs, England

Zeef, Leo A. H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Manchester, Fac Life Sci, Manchester M13 9PL, Lancs, England Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester M13 9WL, Lancs, England

Urquhart, Jill
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester M13 9WL, Lancs, England
St Marys Hosp, Cent Manchester Fdn Trust, Manchester M13 9WL, Lancs, England Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester M13 9WL, Lancs, England

Zoppi, Nicoletta
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Brescia, Fac Med, Div Biol & Genet, Dept Biomed Sci & Biotechnol, I-25123 Brescia, Italy Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester M13 9WL, Lancs, England

Bonshek, Richard
论文数: 0 引用数: 0
h-index: 0
机构:
Manchester Royal Eye Hosp, Cent Manchester Fdn Trust, Manchester M13 9WL, Lancs, England
Manchester Royal Infirm, Cent Manchester Fdn Trust, Natl Specialist Ophthalm Pathol Lab, Manchester M13 9WL, Lancs, England Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester M13 9WL, Lancs, England

Tosounidis, Ioannis
论文数: 0 引用数: 0
h-index: 0
机构:
Manchester Royal Infirm, Cent Manchester Fdn Trust, Natl Specialist Ophthalm Pathol Lab, Manchester M13 9WL, Lancs, England Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester M13 9WL, Lancs, England

Mohan, Meyyammai
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Blackburn Hosp, Dept Ophthalmol, Blackburn BB2 3HH, Lancs, England Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester M13 9WL, Lancs, England

Madden, Colm
论文数: 0 引用数: 0
h-index: 0
机构:
Moss Side Hlth Ctr, Dept Paediat Audiol, Manchester M14 4GP, Lancs, England Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester M13 9WL, Lancs, England

Dodds, Annabel
论文数: 0 引用数: 0
h-index: 0
机构:
St Peters Ctr, Dept Audiol, Burnley BB11 2DL, Lancs, England Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester M13 9WL, Lancs, England

Chandler, Kate E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester M13 9WL, Lancs, England
St Marys Hosp, Cent Manchester Fdn Trust, Manchester M13 9WL, Lancs, England Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester M13 9WL, Lancs, England

Banka, Siddharth
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester M13 9WL, Lancs, England
St Marys Hosp, Cent Manchester Fdn Trust, Manchester M13 9WL, Lancs, England Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester M13 9WL, Lancs, England

Au, Leon
论文数: 0 引用数: 0
h-index: 0
机构:
Manchester Royal Eye Hosp, Cent Manchester Fdn Trust, Manchester M13 9WL, Lancs, England Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester M13 9WL, Lancs, England

Clayton-Smith, Jill
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester M13 9WL, Lancs, England
St Marys Hosp, Cent Manchester Fdn Trust, Manchester M13 9WL, Lancs, England Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester M13 9WL, Lancs, England

Khan, Naz
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester M13 9WL, Lancs, England
St Marys Hosp, Cent Manchester Fdn Trust, Manchester M13 9WL, Lancs, England Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester M13 9WL, Lancs, England

Biesecker, Leslie G.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bethesda, MD 20814 USA
Natl Inst Hlth Intramural Sequencing Ctr NISC, NIH, Rockville, MD 20892 USA Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester M13 9WL, Lancs, England

Wilson, Meredith
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp, Dept Clin Genet, Westmead Sydney, NSW 2145, Australia Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester M13 9WL, Lancs, England

Rohrbach, Marianne
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp, Div Metab, Connect Tissue Unit, CH-8032 Zurich, Switzerland
Childrens Res Ctr, CH-8032 Zurich, Switzerland Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester M13 9WL, Lancs, England

Colombi, Marina
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Brescia, Fac Med, Div Biol & Genet, Dept Biomed Sci & Biotechnol, I-25123 Brescia, Italy Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester M13 9WL, Lancs, England

Giunta, Cecilia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp, Div Metab, Connect Tissue Unit, CH-8032 Zurich, Switzerland
Childrens Res Ctr, CH-8032 Zurich, Switzerland Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester M13 9WL, Lancs, England

Black, Graeme C. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester M13 9WL, Lancs, England
St Marys Hosp, Cent Manchester Fdn Trust, Manchester M13 9WL, Lancs, England Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Genet Med Res Grp, Manchester M13 9WL, Lancs, England