|
🐜
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Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.
31 auth.
C. Castellani,
H. Cuppens,
M. Macek,
J. Cassiman,
E. Kerem,
P. Durie,
E. Tullis,
B. Assael,
C. Bombieri,
A. Brown,
T. Casals,
M. Claustres,
G. Cutting,
E. Dequeker,
J. Dodge,
...
I. Doull,
P. Farrell,
C. Férec,
E. Girodon,
M. Johannesson,
B. Kerem,
M. Knowles,
A. Munck,
P. Pignatti,
D. Radojkovic,
P. Rizzotti,
M. Schwarz,
M. Stuhrmann,
M. Tzetis,
J. Zieleński,
J. Elborn
|
9 |
2008 |
9
🐜
|
|
🐜
|
The origin of the major cystic fibrosis mutation (ΔF508) in European populations
33 auth.
N. Morral,
Jaume Bertranpetit,
Xavier Estivill,
V. Nunes,
T. Casals,
J. Giménez,
André Reis,
R. Varon‐Mateeva,
Milan Macek,
Milan Macek,
Luba Kalaydjieva,
D. Angelicheva,
R. Dancheva,
Giovanni Romeo,
Maria Pia Russo,
...
S. Garnerone,
G. Restagno,
Maurizio Ferrari,
C. Magnani,
M. Claustres,
M. Desgeorges,
M. Schwartz,
Martin Schwarz,
Bruno Dallapiccola,
Giuseppe Novelli,
Claude Férec,
M. Arce,
M. Nemeti,
M. Nemeti,
Juha Kere,
Maria Anvret,
Niklas Dahl,
Ludovit Kadasi
|
8 |
1994 |
8
🐜
|
|
🐜
|
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.
27 auth.
J. Groman,
T. Hefferon,
T. Casals,
L. Bassas,
X. Estivill,
M. des Georges,
C. Guittard,
M. Koudova,
M. D. Fallin,
K. Németh,
G. Fekete,
Ľ. Kádasi,
K. Friedman,
M. Schwarz,
C. Bombieri,
...
P. Pignatti,
E. Kanavakis,
M. Tzetis,
M. Schwartz,
G. Novelli,
M. D’Apice,
A. Sobczyńska‐Tomaszewska,
J. Bal,
M. Stuhrmann,
M. Macek,
M. Claustres,
G. Cutting
|
7 |
2004 |
7
🐜
|
|
🐜
|
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations
16 auth.
E. Dequeker,
M. Stuhrmann,
M. Morris,
T. Casals,
C. Castellani,
M. Claustres,
H. Cuppens,
M. D. Georges,
C. Férec,
M. Macek,
...
P. Pignatti,
H. Scheffer,
M. Schwartz,
M. Witt,
M. Schwarz,
E. Girodon
|
7 |
2009 |
7
🐜
|
|
🐜
|
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13
22 auth.
J. Zieleński,
M. Corey,
R. Rozmahel,
D. Markiewicz,
I. Aznarez,
T. Casals,
S. Larriba,
B. Mercier,
G. Cutting,
A. Krebsová,
...
M. Macek,
Elinor Langfelder-Schwind,
B. Marshall,
Joan K DeCelie-Germana,
M. Claustres,
A. Palacio,
J. Bal,
A. Nowakowska,
C. Férec,
X. Estivill,
P. Durie,
L. Tsui
|
7 |
1999 |
7
🐜
|
|
🐜
|
New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.
8 auth.
F. Pagani,
C. Stuani,
M. Tzetis,
E. Kanavakis,
A. Efthymiadou,
S. Doudounakis,
...
T. Casals,
F. Baralle
|
7 |
2003 |
7
🐜
|
|
🐜
|
The origin of the major cystic fibrosis mutation (delta F508) in European populations.
10 auth.
N. Morral,
J. Bertranpetit,
X. Estivill,
V. Nunes,
T. Casals,
J. Giménez,
...
A. Reis,
R. Varon‐Mateeva,
M. Macek,
L. Kalaydjieva
|
7 |
1994 |
7
🐜
|
|
🦁
|
Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens.
11 auth.
T. Casals,
L. Bassas,
Susanna Egozcue,
M. Ramos,
J. Giménez,
A. Segura,
...
Ferrán García,
M. Carrera,
S. Larriba,
J. Sàrquella,
X. Estivill
|
7 |
2000 |
7
🦁
|
|
🐜
|
Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe
76 auth.
T. Dörk,
M. Macek Jr,
F. Mekus,
B. Tümmler,
J. Tzountzouris,
T. Casals,
A. Krebsová,
M. Koudova,
I. Sakmaryová,
M. Macek Sr.,
V. Vávrová,
D. Zemkova,
E. Ginter,
N. Petrova,
T. Ivaschenko,
...
V. Baranov,
M. Witt,
A. Pogorzelski,
J. Bal,
C. Zékanowsky,
K. Wagner,
M. Stuhrmann,
I. Bauer,
H. Seydewitz,
T. Neumann,
S. Jakubiczka,
C. Kraus,
B. Thamm,
M. Nechiporenko,
L. Livshits,
N. Mossé,
G. Tsukerman,
L. Kádasi,
M. Ravnik-Glavač,
D. Glavač,
R. Komel,
K. Vouk,
V. Kučinskas,
A. Krūmiņa,
M. Teder,
S. Kocheva,
G. Efremov,
T. Onay,
B. Kirdar,
G. Malone,
M. Schwarz,
Z. Zhou,
K. Friedman,
S. Carles,
M. Claustres,
D. Bozon,
C. Verlingue,
C. Férec,
M. Tzetis,
E. Kanavakis,
H. Cuppens,
C. Bombieri,
P. Pignatti,
F. Sangiuolo,
A. Jordanova,
J. Kušic,
D. Radojkovic,
J. Sertić,
D. Richter,
A. Stavljenić Rukavina,
E. Bjorck,
B. Strandvik,
H. Cardoso,
M. Montgomery,
B. Nakielna,
D. Hughes,
X. Estivill,
I. Aznarez,
E. Tullis,
L. Tsui,
J. Zieleński
|
7 |
2000 |
7
🐜
|
|
🐜
|
A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.
9 auth.
M. Chillón,
T. Dörk,
T. Casals,
J. Giménez,
N. Fonknechten,
K. Will,
...
D. Ramos,
V. Nunes,
X. Estivill
|
6 |
1995 |
6
🐜
|
|
🐬
|
CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover.
N. Morral,
V. Nunes,
T. Casals,
X. Estivill
|
6 |
1991 |
6
🐬
|
