Search details
1.
Mcph1, mutated in primary microcephaly, is also crucial for erythropoiesis.
EMBO Rep
; 25(5): 2418-2440, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38605277
2.
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.
Hum Mol Genet
; 31(16): 2766-2778, 2022 08 23.
Article
in English
| MEDLINE | ID: mdl-35348676
3.
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.
Am J Hum Genet
; 108(11): 2112-2129, 2021 11 04.
Article
in English
| MEDLINE | ID: mdl-34626534
4.
A predictive classifier of poor prognosis in transplanted patients with juvenile myelomonocytic leukemia: a study on behalf of the Société Francophone de Greffe de Moelle et de Thérapie Cellulaire.
Haematologica
; 2024 Feb 22.
Article
in English
| MEDLINE | ID: mdl-38385260
5.
Differential activation of basal and IL-7-induced PI3K/Akt/mTOR and JAK/STAT5 signaling distinguishes pediatric from adult acute lymphoblastic leukemia.
Haematologica
; 2024 Apr 24.
Article
in English
| MEDLINE | ID: mdl-38654666
6.
Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.
J Eur Acad Dermatol Venereol
; 2024 Apr 10.
Article
in English
| MEDLINE | ID: mdl-38595321
7.
Germline bi-allelic SH2B3/LNK alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorder.
Haematologica
; 2023 Nov 16.
Article
in English
| MEDLINE | ID: mdl-37981895
8.
The prognostic value of IKZF1plus in B-cell progenitor acute lymphoblastic leukemia: Results from the EORTC 58951 trial.
Pediatr Blood Cancer
; 70(6): e30313, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36971444
9.
Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.
Hum Mol Genet
; 29(11): 1772-1783, 2020 07 21.
Article
in English
| MEDLINE | ID: mdl-31108500
10.
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.
Am J Hum Genet
; 104(6): 1223-1232, 2019 06 06.
Article
in English
| MEDLINE | ID: mdl-31130282
11.
De novo NUF2 variant in a novel inherited bone marrow failure syndrome including microcephaly and renal hypoplasia.
Br J Haematol
; 199(5): 739-743, 2022 12.
Article
in English
| MEDLINE | ID: mdl-36111525
12.
IKZF1 deletions in pediatric acute lymphoblastic leukemia: still a poor prognostic marker?
Blood
; 135(4): 252-260, 2020 01 23.
Article
in English
| MEDLINE | ID: mdl-31821407
13.
Clinical characteristics, growth patterns, and long-term diabetes complications of 24 patients with neonatal diabetes mellitus: A single center experience.
Pediatr Diabetes
; 23(1): 45-54, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34837310
14.
Clonal dynamics in pediatric B-cell precursor acute lymphoblastic leukemia with very early relapse.
Pediatr Blood Cancer
; 69(1): e29361, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34597466
15.
Extending the prenatal Noonan's phenotype by review of ultrasound and autopsy data.
Prenat Diagn
; 42(5): 574-582, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35278234
16.
Pediatric randomized trial EORTC CLG 58951: Outcome for adolescent population with acute lymphoblastic leukemia.
Hematol Oncol
; 38(5): 763-772, 2020 Dec.
Article
in English
| MEDLINE | ID: mdl-32809224
17.
Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype.
Pediatr Diabetes
; 21(6): 932-941, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32418263
18.
Cherubism as a systemic skeletal disease: evidence from an aggressive case.
BMC Musculoskelet Disord
; 21(1): 564, 2020 Aug 21.
Article
in English
| MEDLINE | ID: mdl-32825821
19.
Results of successive EORTC-CLG 58 881 and 58 951 trials in paediatric T-cell acute lymphoblastic leukaemia (ALL).
Br J Haematol
; 186(5): 741-753, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31124581
20.
A PAX5 P80R pediatric B acute lymphoblastic leukemia with monocytic lineage switch at diagnosis: Deciphering classification ambiguity.
Pediatr Blood Cancer
; 71(3): e30842, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38189777