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A ONECUT1 regulatory, non-coding region in pancreatic development and diabetes
Sarah Merz
,
Valérie Senée
,
Anne Philippi
,
Franz Oswald
,
Mina Shaigan
et al.
Article dans une revue
hal-05087222
v1
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Ciliopathies are responsible for short stature and insulin resistance: A systematic review of this clinical association regarding SOFT syndrome
Kevin Perge
,
Emilie Capel
,
Valérie Senée
,
Cécile Julier
,
Corinne Vigouroux
et al.
Article dans une revue
hal-05087225
v1
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DNAJC3 deficiency induces β-cell mitochondrial apoptosis and causes syndromic young-onset diabetes
Maria Lytrivi
,
Valérie Senée
,
Paraskevi Salpea
,
Federica Fantuzzi
,
Anne Philippi
et al.
Article dans une revue
hal-05087232
v1
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Mutations and variants of ONECUT1 in diabetes
Anne Philippi
,
Sandra Heller
,
Ivan Costa
,
Valérie Senée
,
Markus Breunig
et al.
Article dans une revue
hal-05087227
v1
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YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress
Elisa de Franco
,
Maria Lytrivi
,
Hazem Ibrahim
,
Hossam Montaser
,
Matthew Wakeling
et al.
Article dans une revue
hal-05087235
v1
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dUTPase ( DUT ) Is Mutated in a Novel Monogenic Syndrome With Diabetes and Bone Marrow Failure
Reinaldo Sousa dos Santos
,
Mathilde Daures
,
Anne Philippi
,
Sophie Romero
,
Lorella Marselli
et al.
Article dans une revue
hal-05087252
v1
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Microscopic and ultrastructural features in Wolcott-Rallison syndrome, a permanent neonatal diabetes mellitus: about two autopsy cases
Sophie Collardeau-Frachon
,
Alexandre Vasiljevic
,
Anne Jouvet
,
Raymonde Bouvier
,
Valérie Senée
et al.
Article dans une revue
istex
hal-05087264
v1
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A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient
May Sanyoura
,
Cédric Woudstra
,
George Halaby
,
Patrick Baz
,
Valérie Senée
et al.
Article dans une revue
hal-05087266
v1
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SLC29A3 mutation in a patient with syndromic diabetes with features of pigmented hypertrichotic dermatosis with insulin-dependent diabetes, H syndrome and Faisalabad histiocytosis
J. de Jesus
,
Z. Imane
,
Valérie Senée
,
S. Romero
,
P.-J. Guillausseau
et al.
Article dans une revue
hal-05087582
v1
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A Novel Hypomorphic PDX1 Mutation Responsible for Permanent Neonatal Diabetes With Subclinical Exocrine Deficiency
Marc Nicolino
,
Kathryn Claiborn
,
Valérie Senée
,
Anne Boland
,
Doris Stoffers
et al.
Article dans une revue
hal-05087272
v1
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Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature*
M Nuri Ozbek
,
Valérie Senée
,
Sehnaz Aydemir
,
L Damla Kotan
,
Neslihan Mungan
et al.
Article dans une revue
hal-05087268
v1
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Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism
Valérie Senée
,
Claude Chelala
,
Sabine Duchatelet
,
Daorong Feng
,
Hervé Blanc
et al.
Article dans une revue
hal-05087278
v1
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Crohn’s disease associated CARD15 (NOD2) variants are not involved in the susceptibility to type 1 diabetes
Pegah Ghandil
,
Claude Chelala
,
Danièle Dubois-Laforgue
,
Valérie Senée
,
Sophie Caillat-Zucman
et al.
Article dans une revue
hal-05087280
v1
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Wolcott-Rallison Syndrome
Valérie Senée
,
Krishna Vattem
,
Marc Delépine
,
Lynn Rainbow
,
Céline Haton
et al.
Article dans une revue
hal-05087281
v1
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Abnormal FGFR 3 Expression in Cartilage of Thanatophoric Dysplasia Fetuses
A.-L. Delezoide
,
C. Lasselin-Benoist
,
L. Legeai-Mallet
,
P. Brice
,
Valérie Senée
et al.
Article dans une revue
hal-05087299
v1
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