|
🐬
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In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene.
C. Gicquel,
V. Gaston,
J. Mandelbaum,
J. Siffroi,
A. Flahault,
Y. Le Bouc
|
9 |
2003 |
9
🐬
|
|
🐜
|
Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1.
16 auth.
A. Bashamboo,
B. Ferraz-de-Souza,
D. Lourenço,
Lin Lin,
N. Sebire,
D. Montjean,
J. Bignon-Topalovic,
J. Mandelbaum,
J. Siffroi,
S. Christin‐Maitre,
...
U. Radhakrishna,
H. Rouba,
C. Ravel,
J. Seeler,
J. Achermann,
K. McElreavey
|
7 |
2010 |
7
🐜
|
|
🐜
|
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
39 auth.
A. Putoux,
Sophie Thomas,
K. Coene,
E. Davis,
Y. Alanay,
G. Oǧur,
E. Uz,
Daniela Buzas,
C. Gomes,
S. Patrier,
C. L. Bennett,
Nadia Elkhartoufi,
M. Frison,
L. Rigonnot,
N. Joyē,
...
Solenn Pruvost,
G. Utine,
K. Boduroğlu,
P. Nitschké,
L. Fertitta,
C. Thauvin-Robinet,
A. Munnich,
V. Cormier-Daire,
R. Hennekam,
E. Colin,
N. Akarsu,
C. Bôle-Feysot,
N. Cagnard,
A. Schmitt,
Nicolas Goudin,
S. Lyonnet,
F. Encha-Razavi,
J. Siffroi,
M. Winey,
N. Katsanis,
M. Gonzalès,
M. Vekemans,
P. Beales,
T. Attié-Bitach
|
7 |
2011 |
7
🐜
|
|
🐜
|
Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men.
11 auth.
J. Gekas,
F. Thépôt,
C. Turleau,
J. Siffroi,
J. Dadoune,
S. Briault,
...
M. Rio,
G. Bourouillou,
F. Carré-Pigeon,
R. Wasels,
B. Benzacken
|
7 |
2001 |
7
🐜
|
|
🐜
|
Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.
19 auth.
E. Kott,
P. Duquesnoy,
B. Copin,
M. Legendre,
F. Dastot‐Le Moal,
G. Montantin,
L. Jeanson,
A. Tamalet,
J. Papon,
J. Siffroi,
...
N. Rives,
V. Mitchell,
J. de Blic,
A. Coste,
A. Clément,
D. Escalier,
A. Touré,
E. Escudier,
S. Amselem
|
7 |
2012 |
7
🐜
|
|
🦁
|
Sex chromosome mosaicism in males carrying Y chromosome long arm deletions.
14 auth.
J. Siffroi,
C. L. Bourhis,
Csilla Krausz,
Sandrine Barbaux,
Luis Quintana-Murci,
Samia Kanafani,
H. Rouba,
Louis Bujan,
Georges Bourrouillou,
I. Seifer,
...
Daniel Boucher,
Marc Fellous,
Ken McElreavey,
Jean Pierre Dadoune
|
7 |
2000 |
7
🦁
|
|
🐜
|
Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders
22 auth.
C. Depienne,
D. Moreno-De-Luca,
D. Heron,
D. Bouteiller,
Aurélie Gennetier,
R. Delorme,
P. Chaste,
J. Siffroi,
S. Chantot-Bastaraud,
B. Benyahia,
...
Oriane Trouillard,
G. Nygren,
S. Kopp,
Maria E. Johansson,
M. Råstam,
L. Burglen,
E. Leguern,
A. Verloes,
M. Leboyer,
A. Brice,
C. Gillberg,
C. Betancur
|
7 |
2009 |
7
🐜
|
|
🐜
|
Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.
21 auth.
M. Whitfield,
Lucie Thomas,
É. Béquignon,
A. Schmitt,
L. Stouvenel,
G. Montantin,
Sylvie Tissier,
P. Duquesnoy,
B. Copin,
S. Chantot,
...
F. Dastot,
Catherine Faucon,
A. Barbotin,
A. Loyens,
J. Siffroi,
J. Papon,
E. Escudier,
S. Amselem,
V. Mitchell,
A. Touré,
M. Legendre
|
7 |
2019 |
7
🐜
|
|
🐬
|
Connexin43 Gene Expression and Regulation in the Rodent Seminiferous Epithelium
Catherine Batias,
J. Siffroi,
P. Fénichel,
G. Pointis,
D. Segretain
|
6 |
2000 |
6
🐬
|
|
🐜
|
A high frequency of Y chromosome deletions in males with nonidiopathic infertility.
18 auth.
C. Krausz,
L. Quintana-Murci,
S. Barbaux,
J. Siffroi,
H. Rouba,
D. Delafontaine,
N. Souleyreau-Therville,
G. Arvis,
J. Antoine,
E. Erdei,
...
J. Taar,
A. Tar,
E. Jeandidier,
G. Plessis,
T. Bourgeron,
J. Dadoune,
M. Fellous,
K. McElreavey
|
6 |
1999 |
6
🐜
|
|
🐜
|
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient
21 auth.
L. Burglen,
S. Chantot-Bastaraud,
C. Garel,
M. Milh,
R. Touraine,
G. Zanni,
F. Petit,
A. Afenjar,
C. Goizet,
S. Barresi,
...
A. Coussement,
C. Ioos,
L. Lazaro,
S. Joriot,
I. Desguerre,
D. Lacombe,
V. des Portes,
E. Bertini,
J. Siffroi,
T. Billette de Villemeur,
D. Rodriguez
|
6 |
2012 |
6
🐜
|
