|
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Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes
19 auth.
F. Coppieters,
I. Casteels,
F. Meire,
S. De Jaegere,
S. Hooghe,
N. van Regemorter,
H. Van Esch,
A. Matulevičienė,
L. Nunes,
V. Meersschaut,
...
S. Walraedt,
L. Standaert,
P. Coucke,
H. Hoeben,
H. Kroes,
J. Vande Walle,
T. de Ravel,
B. Leroy,
E. de Baere
|
7 |
2010 |
7
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|
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European regulation on orphan medicinal products: 10 years of experience and future perspectives.
48 auth.
K. Westermark,
B. B. Holm,
Mirjam Söderholm,
Jordi Llinares-Garcia,
Frida Rivière,
Stiina Aarum,
F. Butlen-Ducuing,
S. Tsigkos,
Agnieszka Wilk-Kachlicka,
Cinzia N'Diamoi,
J. Borvendég,
David Lyons,
B. Sepodes,
Brigitte Bloechl-Daum,
A. Lhoir,
...
M. Todorova,
Ioannis Kkolos,
K. Kubáčková,
H. Bosch‐Traberg,
V. Tillmann,
V. Saano,
E. Héron,
Rembert Elbers,
M. Siouti,
J. Eggenhofer,
P. Salmon,
M. Clementi,
D. Krievins,
A. Matulevičienė,
H. Metz,
A. C. Vincenti,
A. Voordouw,
B. Dembowska-Bagińska,
A. C. Nunes,
F. M. Saleh,
T. Foltanova,
M. Mozina,
Josep Torrent i Farnell,
B. Beerman,
S. Mariz,
M. Evers,
L. Greene,
S. Thorsteinsson,
L. Gramstad,
M. Mavris,
F. Bignami,
Annie Lorence,
C. Bélorgey
|
5 |
2011 |
5
🐜
|
|
🐜
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Variation in FGF1, FOXE1, and TIMP2 genes is associated with nonsyndromic cleft lip with or without cleft palate.
17 auth.
T. Nikopensius,
Inga Kempa,
L. Ambrozaitytė,
T. Jagomägi,
M. Saag,
A. Matulevičienė,
A. Utkus,
K. Krjutškov,
V. Tammekivi,
L. Piekuse,
...
I. Akota,
B. Barkāne,
A. Krūmiņa,
J. Kloviņš,
B. Lāce,
V. Kučinskas,
A. Metspalu
|
5 |
2011 |
5
🐜
|
|
🐜
|
Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate.
16 auth.
T. Nikopensius,
T. Jagomägi,
K. Krjutškov,
V. Tammekivi,
M. Saag,
I. Prane,
L. Piekuse,
I. Akota,
B. Barkāne,
A. Krūmiņa,
...
L. Ambrozaitytė,
A. Matulevičienė,
Z. Kučinskienė,
B. Lāce,
V. Kučinskas,
A. Metspalu
|
5 |
2010 |
5
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|
|
🐜
|
Replication of novel susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24 in Estonian and Lithuanian patients
15 auth.
T. Nikopensius,
L. Ambrozaitytė,
K. Ludwig,
S. Birnbaum,
T. Jagomägi,
M. Saag,
A. Matulevičienė,
Laura Linkevičienė,
S. Herms,
M. Knapp,
...
P. Hoffmann,
M. Nöthen,
V. Kučinskas,
A. Metspalu,
E. Mangold
|
5 |
2009 |
5
🐜
|
|
🐜
|
The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population
16 auth.
V. Mikštienė,
A. Jakaitienė,
J. Byčkova,
E. Gradauskienė,
E. Preiksaitiene,
B. Burnytė,
Birutė Tumienė,
A. Matulevičienė,
L. Ambrozaitytė,
Ingrida Uktverytė,
...
I. Domarkienė,
Tautvydas Rančelis,
L. Cimbalistienė,
E. Lesinskas,
V. Kučinskas,
A. Utkus
|
4 |
2016 |
4
🐜
|
|
🐜
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NSD1 duplication in Silver–Russell syndrome (SRS): molecular karyotyping in patients with SRS features
13 auth.
J. Sachwitz,
R. Meyer,
G. Fekete,
S. Spranger,
A. Matulevičienė,
V. Kučinskas,
A. Bach,
A. Luczay,
N. O. Brüchle,
K. Eggermann,
...
K. Zerres,
M. Elbracht,
T. Eggermann
|
4 |
2017 |
4
🐜
|
|
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A single gene deletion on 4q28.3: PCDH18--a new candidate gene for intellectual disability?
10 auth.
J. Kasnauskienė,
Ž. Čiuladaitė,
E. Preiksaitiene,
A. Matulevičienė,
A. Alexandrou,
G. Koumbaris,
...
C. Sismani,
Ingrida Pepalytė,
P. Patsalis,
V. Kučinskas
|
4 |
2012 |
4
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