Detalhe da pesquisa
1.
Delayed haemolytic transfusion reaction in paediatric patients with sickle cell disease: A retrospective study in a French national reference centre.
Br J Haematol
; 201(1): 125-132, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36541848
2.
Effect of Facemask in Congenital Central Hypoventilation Syndrome.
Respiration
; 102(12): 991-994, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38043520
3.
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.
Hum Mutat
; 42(7): 848-861, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33856728
4.
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder.
Clin Genet
; 100(4): 396-404, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34176129
5.
Appropriate thresholds for accurate screening for ß-thalassemias in the newborn period: results from a French center for newborn screening.
Clin Chem Lab Med
; 59(1): 209-216, 2020 08 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32813673
6.
Is there an optimal strategy for real-time continuous glucose monitoring in pediatrics? A 12-month French multi-center, prospective, controlled randomized trial (Start-In!).
Pediatr Diabetes
; 20(3): 304-313, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30663187
7.
Congenital methaemoglobinaemia and chronic haemolysis related to a rare form of unstable haemoglobin: Efficacy of riboflavin on clinical and biological features.
Br J Haematol
; 200(3): 385-388, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36410789
8.
New approach to accurate interpretation of sickle cell disease newborn screening by applying multiple of median cutoffs and ratios.
Pediatr Blood Cancer
; 65(9): e27230, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29781571
9.
Clinical and haematological risk factors for cerebral macrovasculopathy in a sickle cell disease newborn cohort: a prospective study.
Br J Haematol
; 172(6): 966-77, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26728571
10.
Improvement of medical care in a cohort of newborns with sickle-cell disease in North Paris: impact of national guidelines.
Br J Haematol
; 173(6): 927-37, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27062606
11.
Diagnostic tool for red blood cell membrane disorders: Assessment of a new generation ektacytometer.
Blood Cells Mol Dis
; 56(1): 9-22, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26603718
12.
Comparison of automated erythrocytapheresis versus manual exchange transfusion to treat cerebral macrovasculopathy in sickle cell anemia.
Transfusion
; 56(5): 1121-8, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27021622
13.
Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder.
Eur J Med Genet
; 68: 104923, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38346666
14.
Impact of glucose-6-phosphate dehydrogenase deficiency on sickle cell anaemia expression in infancy and early childhood: a prospective study.
Br J Haematol
; 163(5): 646-54, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24117340
15.
Neurogenic hypertension characterizes children with congenital central hypoventilation syndrome and is aggravated by alveolar hypoventilation during sleep.
J Hypertens
; 41(8): 1339-1346, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37260279
16.
[Towards a generalization of non-invasive prenatal diagnosis of single-gene disorders? Assesment and outlook]. / Vers une généralisation du diagnostic prénatal non-invasif des maladies monogéniques ? État des lieux et perspectives.
Gynecol Obstet Fertil Senol
; 51(10): 463-470, 2023 10.
Artigo
em Francês
| MEDLINE | ID: mdl-37517661
17.
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.
Genes (Basel)
; 14(6)2023 05 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37372360
18.
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.
Neurology
; 100(6): e603-e615, 2023 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36307226
19.
[Flowcharts for the diagnosis and the molecular characterization of hemoglobinopathies]. / Arbres décisionnels pour le diagnostic et la caractérisation moléculaire des hémoglobinopathies.
Ann Biol Clin (Paris)
; 68(4): 455-64, 2010.
Artigo
em Francês
| MEDLINE | ID: mdl-20650741
20.
[Newborn screening of sickle cell disease and management of care.] / Dépistage néonatal de la drépanocytose et filières d'organisation des soins.
Rev Prat
; 69(4): 411-416, 2019 Apr.
Artigo
em Francês
| MEDLINE | ID: mdl-31626498