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Signes cliniques évocateurs d'un syndrome de Marfan chez l'enfant de moins de 10 ans

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2013-11, Vol.20 (11), p.1193-1200

2013

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Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases

Journal of medical genetics, 2006-05, Vol.43 (5), p.401-405

2006

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Are all Xq26.2 duplications overlapping GPC3 on array‐CGH a cause of Simpson‐Golabi‐Behmel syndrome? When do we need transcript analysis?

Clinical genetics, 2018-05, Vol.93 (5), p.1111-1113

2018

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VP07.02: Cell‐free DNA knowledge of the generalist obstetrician

Ultrasound in obstetrics & gynecology, 2020-10, Vol.56 (S1), p.79-79

2020

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VP16.10: Prenatal diagnosis of Coffin‐Siris syndrome: when to think about?

Ultrasound in obstetrics & gynecology, 2021-10, Vol.58 (S1), p.166-166

2021

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Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause

Clinical genetics, 2014-09, Vol.86 (3), p.246-251

2014

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The sheathed flagellum of Brucella melitensis is involved in persistence in a murine model of infection

Cellular microbiology, 2005-05, Vol.7 (5), p.687-698

2005

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EP04.29: Antenatal diagnosis of congenital lymphoedema

Ultrasound in obstetrics & gynecology, 2019-10, Vol.54 (S1), p.257-257

2019

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EP17.10: Early diagnosis of Nager syndrome in dichorionic twins

Ultrasound in obstetrics & gynecology, 2019-10, Vol.54 (S1), p.336-336

2019

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EP15.19: A case of prenatally diagnosed Pfeiffer syndrome

Ultrasound in obstetrics & gynecology, 2019-10, Vol.54 (S1), p.321-322

2019

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P05.08: Antenatal diagnosis of Diamond‐Blackfan anemia

Ultrasound in obstetrics & gynecology, 2019-10, Vol.54 (S1), p.169-169

2019

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Imbalance between procoagulant factors and natural coagulation inhibitors contributes to hypercoagulability in the critically ill COVID-19 patient: clinical implications

European review for medical and pharmacological sciences, 2020-09, Vol.24 (17), p.9161

2020

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EP07.03: A case of chondrodyplasia punctata in a lupic mother

Ultrasound in obstetrics & gynecology, 2017-09, Vol.50 (S1), p.290-290

2017

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Identification and characterization of in vivo attenuated mutants of Brucella melitensis

Molecular microbiology, 2000-11, Vol.38 (3), p.543-551

2000

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Attenuated Signature-Tagged Mutagenesis Mutants of Brucella melitensis Identified during the Acute Phase of Infection in Mice

Infection and Immunity, 2003-12, Vol.71 (12), p.7053-7060

2003

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What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?

Prenatal diagnosis, 2012-12, Vol.32 (13), p.1318-1323

2012

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EP14.39: Should we consider prenatal diagnosis of Silver–Russell syndrome?

Ultrasound in obstetrics & gynecology, 2017-09, Vol.50 (S1), p.325-326

2017

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OP12.02: Absent nasal bone without other features of Trisomy 21 in pregnant Caucasian women: check the clavicles for cleidocranial dysplasia

Ultrasound in obstetrics & gynecology, 2017-09, Vol.50 (S1), p.84-84

2017

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Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome

Journal of medical genetics, 2002-06, Vol.39 (6), p.415-421

2002

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OC05.04: Phenotypical spectrum of 4 antenatal diagnosed cases of MOPD type 1

Ultrasound in obstetrics & gynecology, 2017-09, Vol.50 (S1), p.9-10

2017

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Identification of Brucella spp. genes involved in intracellular trafficking

Cellular microbiology, 2001-07, Vol.3 (7), p.487-497

2001

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Leucocytes, D-dimères et Ferritinémie comme Facteurs Prédictifs Indépendants d’Embolie Pulmonaire suspectée à l’admission chez les patients COVID-19 hospitalisés hors réanimation : étude rétrospective multicentrique française CLOTVID

La revue de medecine interne, 2021-06, Vol.42, p.A37-A38

2021

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EP09.33: Early prenatal diagnosis of Golabi syndrome

Ultrasound in obstetrics & gynecology, 2015-09, Vol.46 (S1), p.222-222

2015

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P14.07: Like mother, like daughter: maternal diagnosis of COL4A1 mutation after prenatal presentation in offspring

Ultrasound in obstetrics & gynecology, 2015-09, Vol.46 (S1), p.166-166

2015

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P14.05: Early prenatal diagnosis of Beckwith‐Wiedemann syndrome

Ultrasound in obstetrics & gynecology, 2015-09, Vol.46 (S1), p.165-165

2015

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Signes cliniques évocateurs d'un syndrome de Marfan chez l'enfant de moins de 10 ans

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases

Are all Xq26.2 duplications overlapping GPC3 on array‐CGH a cause of Simpson‐Golabi‐Behmel syndrome? When do we need transcript analysis?

VP07.02: Cell‐free DNA knowledge of the generalist obstetrician

VP16.10: Prenatal diagnosis of Coffin‐Siris syndrome: when to think about?

Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause

The sheathed flagellum of Brucella melitensis is involved in persistence in a murine model of infection

EP04.29: Antenatal diagnosis of congenital lymphoedema

EP17.10: Early diagnosis of Nager syndrome in dichorionic twins

EP15.19: A case of prenatally diagnosed Pfeiffer syndrome

P05.08: Antenatal diagnosis of Diamond‐Blackfan anemia

Imbalance between procoagulant factors and natural coagulation inhibitors contributes to hypercoagulability in the critically ill COVID-19 patient: clinical implications

EP07.03: A case of chondrodyplasia punctata in a lupic mother

Identification and characterization of in vivo attenuated mutants of Brucella melitensis

Attenuated Signature-Tagged Mutagenesis Mutants of Brucella melitensis Identified during the Acute Phase of Infection in Mice

What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?

EP14.39: Should we consider prenatal diagnosis of Silver–Russell syndrome?

OP12.02: Absent nasal bone without other features of Trisomy 21 in pregnant Caucasian women: check the clavicles for cleidocranial dysplasia

Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome

OC05.04: Phenotypical spectrum of 4 antenatal diagnosed cases of MOPD type 1

Identification of Brucella spp. genes involved in intracellular trafficking

Leucocytes, D-dimères et Ferritinémie comme Facteurs Prédictifs Indépendants d’Embolie Pulmonaire suspectée à l’admission chez les patients COVID-19 hospitalisés hors réanimation : étude rétrospective multicentrique française CLOTVID

EP09.33: Early prenatal diagnosis of Golabi syndrome

P14.07: Like mother, like daughter: maternal diagnosis of COL4A1 mutation after prenatal presentation in offspring

P14.05: Early prenatal diagnosis of Beckwith‐Wiedemann syndrome

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