|
🐜
|
Targeted disruption of the mouse Caspase 8 gene ablates cell death induction by the TNF receptors, Fas/Apo1, and DR3 and is lethal prenatally.
18 auth.
E. Varfolomeev,
Marcus Schuchmann,
V. Luria,
N. Chiannilkulchai,
Jacques S. Beckmann,
I. Mett,
Denis Rebrikov,
V. Brodianski,
O. Kemper,
O. Kollet,
...
T. Lapidot,
Dror Soffer,
T. Sobe,
K. Avraham,
T. Goncharov,
H. Holtmann,
P. Lonai,
D. Wallach
|
10 |
1998 |
10
🐜
|
|
🐜
|
Genome-wide, large-scale production of mutant mice by ENU mutagenesis
37 auth.
M. H. Angelis,
H. Flaswinkel,
H. Fuchs,
B. Rathkolb,
D. Soewarto,
S. Marschall,
S. Heffner,
W. Pargent,
K. Wuensch,
M. Jung,
A. Reis,
T. Richter,
F. Alessandrini,
T. Jakob,
Edith Fuchs,
...
H. Kolb,
E. Kremmer,
Karlheinz Schaeble,
Boris Rollinski,
A. Roscher,
C. Peters,
T. Meitinger,
T. Strom,
T. Steckler,
F. Holsboer,
T. Klopstock,
F. Gekeler,
C. Schindewolf,
Thomas Jung,
K. Avraham,
H. Behrendt,
J. Ring,
A. Zimmer,
K. Schughart,
K. Pfeffer,
E. Wolf,
R. Balling
|
9 |
2000 |
9
🐜
|
|
🐜
|
GJB2 mutations and degree of hearing loss: a multicenter study.
64 auth.
R. Snoeckx,
P. Huygen,
D. Feldmann,
S. Marlin,
F. Denoyelle,
J. Waligóra,
M. Mueller‐Malesińska,
A. Pollak,
R. Płoski,
A. Murgia,
E. Orzan,
P. Castorina,
U. Ambrosetti,
E. Nowakowska-Szyrwińska,
J. Bal,
...
W. Wiszniewski,
A. Janecke,
D. Nekahm-Heis,
P. Seeman,
O. Bendová,
M. Kenna,
Anna Frangulov,
H. Rehm,
M. Tekin,
A. İncesulu,
H. Dahl,
D. du Sart,
L. Jenkins,
D. Lucas,
M. Bitner-Glindzicz,
K. Avraham,
Z. Brownstein,
I. del Castillo,
F. Moreno,
N. Blin,
M. Pfister,
I. Sziklai,
T. Tóth,
P. M. Kelley,
E. Cohn,
L. Van Maldergem,
P. Hilbert,
A. Roux,
M. Mondain,
L. Hoefsloot,
C. Cremers,
T. Löppönen,
H. Löppönen,
A. Parving,
K. Grønskov,
I. Schrijver,
Joseph Roberson,
F. Gualandi,
A. Martini,
G. Lina-Granade,
N. Pallares‐Ruiz,
C. Correia,
G. Fialho,
K. Cryns,
N. Hilgert,
P. H. Van de Heyning,
C. Nishimura,
Richard J. H. Smith,
G. Van Camp
|
9 |
2005 |
9
🐜
|
|
🦁
|
The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells
8 auth.
K. Avraham,
T. Hasson,
K. Steel,
D. Kingsley,
L. B. Russell,
M. Mooseker,
...
N. Copeland,
N. Jenkins
|
8 |
1995 |
8
🦁
|
|
🐜
|
Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing Loss
22 auth.
Andrea M. Oza,
Marina T. DiStefano,
Sarah E. Hemphill,
Brandon J. Cushman,
Andrew R. Grant,
Rebecca K. Siegert,
Jun Shen,
Alex Chapin,
N. Boczek,
L. Schimmenti,
...
J. Murry,
L. Hasadsri,
Kiyomitsu Nara,
M. Kenna,
K. Booth,
H. Azaiez,
Andrew J. Griffith,
K. Avraham,
H. Kremer,
H. Rehm,
S. Amr,
A. A. Abou Tayoun
|
8 |
2018 |
8
🐜
|
|
🐢
|
Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans.
15 auth.
O. Vahava,
R. Morell,
E. Lynch,
S. Weiss,
Marjory E. Kagan,
N. Ahituv,
Jan E. Morrow,
Ming K. Lee,
A. Skvorak,
C. Morton,
...
A. Blumenfeld,
M. Frydman,
T. Friedman,
M. King,
K. Avraham
|
8 |
1998 |
8
🐢
|
|
🐜
|
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment
30 auth.
F. D. Castillo,
M. Rodríguez‐Ballesteros,
Araceli Álvarez,
T. Hutchin,
E. Leonardi,
C. A. M. D. Oliveira,
H. Azaiez,
Z. Brownstein,
Matthew R. Avenarius,
S. Marlin,
A. Pandya,
Hashem Shahin,
K. Siemering,
D. Weil,
W. Wuyts,
...
Luis A. Aguirre,
Y. Martín,
M. Moreno-Pelayo,
M. Villamar,
K. Avraham,
H. Dahl,
Moien Kanaan,
W. Nance,
C. Petit,
Richard J. H. Smith,
G. Camp,
E. Sartorato,
A. Murgia,
F. Moreno,
I. Castillo
|
8 |
2005 |
8
🐜
|
|
🐜
|
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.
30 auth.
I. Castillo,
M. Moreno-Pelayo,
F. D. Castillo,
Z. Brownstein,
S. Marlin,
Quint Adina,
D. Cockburn,
A. Pandya,
K. Siemering,
G. P. Chamberlin,
E. Ballana,
W. Wuyts,
Andréa Trevas Maciel-Guerra,
Araceli Álvarez,
M. Villamar,
...
M. Shohat,
M. Shohat,
D. Abeliovich,
H. Dahl,
H. Dahl,
X. Estivill,
P. Gasparini,
T. Hutchin,
W. Nance,
E. Sartorato,
Richard J. H. Smith,
G. Camp,
K. Avraham,
C. Petit,
F. Moreno
|
8 |
2003 |
8
🐜
|
|
🐜
|
Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.
11 auth.
T. Walsh,
Hashem Shahin,
Tal Elkan-Miller,
Ming K. Lee,
A. Thornton,
Wendy Roeb,
...
Amal Abu Rayyan,
Suheir Loulus,
K. Avraham,
M. King,
Moien Kanaan
|
8 |
2010 |
8
🐜
|
|
🐬
|
Role of myosin VI in the differentiation of cochlear hair cells.
T. Self,
T. Sobe,
N. Copeland,
N. Jenkins,
K. Avraham,
K. Steel
|
8 |
1999 |
8
🐬
|
|
🐜
|
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36
13 auth.
S. Vreugde,
A. Erven,
C. Kros,
W. Marcotti,
H. Fuchs,
Kiyoto Kurima,
E. Wilcox,
T. Friedman,
A. Griffith,
R. Balling,
...
M. H. Angelis,
K. Avraham,
K. Steel
|
8 |
2002 |
8
🐜
|
|
🐢
|
From flies' eyes to our ears: Mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30
10 auth.
T. Walsh,
Vanessa Walsh,
S. Vreugde,
R. Hertzano,
Hashem Shahin,
Smadar Haika,
...
Ming K. Lee,
Moien Kanaan,
M. King,
K. Avraham
|
7 |
2002 |
7
🐢
|
