|
π
|
Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease
17 auth.
R. Kandt,
J. Haines,
Moyra J. Smith,
H. Northrup,
R. Gardner,
M. Short,
K. Dumars,
E. Roach,
S. Steingold,
S. Wall,
...
S. Blanton,
P. Flodman,
D. J. Kwiatkowski,
A. Jewell,
J. Weber,
A. Roses,
M. Pericak-Vance
|
8 |
1992 |
8
π
|
|
π
|
Highβresolution scanning SQUID microscope
7 auth.
J. Kirtley,
M. Ketchen,
K. Stawiasz,
Jonathan Z. Sun,
W. Gallagher,
S. Blanton,
...
S. Wind
|
8 |
1995 |
8
π
|
|
π
|
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.
17 auth.
L. Sullivan,
S. J. Bowne,
D. Birch,
D. Hughbanks-Wheaton,
J. Heckenlively,
R. Lewis,
Charles A. Garcia,
R. S. Ruiz,
S. Blanton,
H. Northrup,
...
Anisa I. Gire,
R. Seaman,
Hatice Duzkale,
Catherine J. Spellicy,
Jingya Zhu,
S. Shankar,
S. Daiger
|
8 |
2006 |
8
π
|
|
π’
|
Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly.
Arun Kumar,
S. Girimaji,
M. Duvvari,
S. Blanton
|
7 |
2009 |
7
π’
|
|
π
|
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
17 auth.
A. SΔ±rmacΔ±,
Michail Spiliopoulos,
F. Brancati,
Eric H. Powell,
D. Duman,
Alexander J Abrams,
G. Bademci,
E. Agolini,
Shengru Guo,
Berrin Konuk,
...
A. Kavaz,
S. Blanton,
M. C. Digilio,
B. Dallapiccola,
Juan I. Young,
S. Zuchner,
M. Tekin
|
7 |
2011 |
7
π
|
|
π
|
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.
9 auth.
S. J. Bowne,
L. Sullivan,
S. Blanton,
C. Cepko,
S. Blackshaw,
D. Birch,
...
D. Hughbanks-Wheaton,
J. Heckenlively,
S. Daiger
|
7 |
2002 |
7
π
|
|
π¬
|
Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8.
J. Hecht,
D. Hogue,
L. Strong,
M. Hansen,
S. Blanton,
M. Wagner
|
7 |
1995 |
7
π¬
|
|
π
|
Genetic heterogeneity in families with hereditary multiple exostoses.
14 auth.
A. Cook,
W. Raskind,
S. Blanton,
R. Pauli,
Ronald G. Gregg,
C. Francomano,
E. Puffenberger,
E. Conrad,
G. Schmale,
G. Schellenberg,
...
E. Wijsman,
J. Hecht,
D. Wells,
M. Wagner
|
7 |
1993 |
7
π
|
|
π
|
Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss.
10 auth.
Xue Liu,
X. Xia,
Li Rong Xu,
A. Pandya,
Chuan Yu Liang,
S. Blanton,
...
S. Blanton,
S. D. Brown,
K. Steel,
W. Nance
|
7 |
2000 |
7
π
|
|
π
|
Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss.
10 auth.
Xue Liu,
X. Xia,
Li Rong Xu,
A. Pandya,
Chuan Yu Liang,
S. Blanton,
...
S. Blanton,
S. D. Brown,
K. Steel,
W. Nance
|
7 |
2000 |
7
π
|
|
π
|
A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13.
55 auth.
E. Leslie,
Jenna C. Carlson,
J. Shaffer,
E. Feingold,
G. Wehby,
C. Laurie,
D. Jain,
C. Laurie,
K. Doheny,
T. McHenry,
J. Resick,
Carla Sanchez,
J. Jacobs,
Beth Emanuele,
A. Vieira,
...
K. Neiswanger,
A. Lidral,
L. C. Valencia-Ramirez,
A. M. LΓ³pez-Palacio,
Dora Rivera Valencia,
M. Arcos-Burgos,
A. Czeizel,
L. Field,
Carmencita Padilla,
E. M. Cutiongco-de la Paz,
F. Deleyiannis,
K. Christensen,
R. Munger,
R. T. Lie,
A. Wilcox,
P. Romitti,
E. Castilla,
J. C. Mereb,
F. Poletta,
I. Orioli,
F. M. Carvalho,
J. Hecht,
S. Blanton,
C. J. BuxΓ³,
A. Butali,
P. Mossey,
W. Adeyemo,
O. James,
R. Braimah,
Babatunde S. Aregbesola,
M. Eshete,
F. Abate,
M. Koruyucu,
F. Seymen,
Lian Ma,
J. E. de Salamanca,
S. Weinberg,
Lina M. Moreno,
J. C. Murray,
M. Marazita
|
7 |
2016 |
7
π
|
