Nicole Philip: Influence Statistics

Nicole Philip

Nicole Philip

Département de Génétique Médicale, APHM, CHU Timone Enfants, Marseille, France | Department of Genetics, la Timone University Hospital, Marseille, France | Aix Marseille ...

Nicole Philip: Expert Impact

Concepts for which Nicole Philip has direct influence: Prenatal diagnosis , Human pair , 22q11 microdeletion , Mental retardation , Situ hybridization , New case , Fragile site .

Nicole Philip: KOL impact

Concepts related to the work of other authors for which for which Nicole Philip has influence: Charge syndrome , Human pair , Situ hybridization , Intellectual disability , Prenatal diagnosis , 22q112 deletion , Mental retardation .

KOL Resume for Nicole Philip


Département de Génétique Médicale, APHM, CHU Timone Enfants, Marseille, France


Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'interrégion Sud-Est, APHM, Marseille, France.


Hôpital de la Timone, Medical Genetics, Marseille, Provence‐Alpes‐Côte d'Azur, France


Department of Medical Genetics, Referral Center for Developmental Anomalies, Aix-Marseille University, APHM, GMGF, Timone Hospital, Marseille, France


Department of Medical Genetics, Reference Center for Developmental Anomalies, APHM, Hôpital Timone, Marseille, France


APHM, CHU Timone‐Enfants Unité de génétique clinique Marseille France


Département de génétique médicale, Centre de référence CLAD –PACA, Hôpital d’enfant de la Timone, APHM, Marseille, France


Multidisciplinary Department of Prenatal Diagnosis, La Timone Children's Hospital, 264, rue Saint-Pierre, 13385 Marseille Cedex 5, France


Unité de Génétique Clinique, Centre de Référence “Anomalies du Développement et Syndromes Malformatifs Sud-Est PACA”, Département de Génétique Médicale, Hôpital Timone – Enfants, Assistance Publique – Hôpitaux de Marseille, Marseille, France


Department of Medical Genetics, AP‐HM and University of Mediterranee, Timone Children's Hospital, Marseille, France


Département de Génétique Médicale, CHU Timone Enfants, Marseille, France


Centre pluridisciplinaire de diagnostic prénatal, hôpital d’Enfants de la Timone, 13385 Marseille cedex 5, France


Inserm, U910, Marseille, France

Service de Genetique, Hopital La Timone, CHU Marseille, Marseille (Dr Philip)


Laboratoire de Génétique Moléculaire, CHU Pontchaillou, 2 rue Henri Le Guilloux 35033 Rennes Cedex 9, France

Service de Génétique Clinique, Département de Génétique Médicale

Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust (Heavitree), Gladstone Road, Exeter, EX1 2ED, United Kingdom


Institut National de la Santé et de la Recherche Médicale (INSERM), U491, Marseille, France

Department of Genetics, CHRU, Marseille


Department of Medical Genetics, Timone Hospital, CHU Marseille, and

Unité de Génétique clinique, Département de Génétique Médicale, Hôpital d’enfants de la Timone


INSERM U491, Faculté de Médecine de la Timone, Marseille, France

Prominent publications by Nicole Philip

KOL-Index: 11145 . Fraser syndrome (OMIM 219000) is a multisystem malformation usually comprising cryptophthalmos, syndactyly and renal defects1. Here we report autozygosity mapping and show that the locus FS1 at chromosome 4q21 is associated with Fraser syndrome, although the condition is genetically heterogeneous. Mutation analysis identified five frameshift mutations in FRAS1, which encodes one member of ...
Known for Fraser Syndrome | Extracellular Matrix | Blebbed Phenotype | Mutations Fras1
KOL-Index: 10109 . BACKGROUND: CBL missense mutations have recently been associated with juvenile myelomonocytic leukaemia (JMML), an aggressive myeloproliferative and myelodysplastic neoplasm of early childhood characterised by excessive macrophage/monocyte proliferation. CBL, an E3 ubiquitin ligase and a multi-adaptor protein, controls proliferative signalling networks by downregulating the growth factor ...
Known for Germline Mutations | Juvenile Myelomonocytic | Patients Jmml | Cbl Gene
KOL-Index: 9860 . STUDY OBJECTIVE: The aims were (1) to assess whether termination of pregnancy after prenatal screening by ultrasound affected the prevalence of congenital anomalies at birth, and (2) to examine the trend of this pattern over time. DESIGN: This study deals with congenital anomalies, possibly detectable prenatally or at birth, which were classified as isolated and multiple anomalies; ...
Known for Congenital Anomalies | Prenatal Diagnosis | Prevalence Birth | Terminations Pregnancy
KOL-Index: 9591 . Townes-Brocks syndrome (TBS) is an autosomal dominant developmental disorder characterized by anal and thumb malformations and by ear anomalies that can affect the three compartments and usually lead to hearing loss. The gene underlying TBS, SALL1, is a human homolog of the Drosophila spalt gene which encodes a transcription factor. A search for SALL1 mutations undertaken in 11 unrelated ...
Known for Sall1 Mutation | Townes‐brocks Syndrome | Sporadic Cases | Sensorineural Humans
KOL-Index: 9591 . CONTEXT: Prenatal dexamethasone (DEX) treatment has been proposed since 1984 to prevent genital virilization in girls with congenital adrenal hyperplasia (CAH). DEX is effective in CAH females if initiated before the sixth week of gestation, but its safety in children treated in utero remains controversial regarding cognitive functions. OBJECTIVE: To avoid prenatal DEX in males and ...
Known for Congenital Adrenal | Fetal Sex | Prenatal Dex | Risk Cah
KOL-Index: 9536 . OBJECTIVE: We have recently shown that de novo mutations in the TUBA1A gene are responsible for a wide spectrum of neuronal migration disorders. To better define the range of these abnormalities, we searched for additional mutations in a cohort of 100 patients with lissencephaly spectrum for whom no mutation was identified in DCX, LIS1 and ARX genes and compared these data to five ...
Known for Tuba1a Mutations | Cortical Dysgeneses | Lissencephaly Spectrum | Perisylvian Pachygyria
KOL-Index: 9433 . Mutations in ATRX are associated with a wide and clinically heterogeneous spectrum of X-linked mental retardation syndromes. The ATRX protein, involved in chromatin remodelling, belongs to the family of SWI/SNF DNA helicases and contains a plant homeodomain (PHD)-like domain. To date, more than 60 different mutations have been reported in ATRX. One of them is recurrent and accounts for 20% ...
Known for Atrx Syndrome | Nuclear Protein | Helicase Domain | Urogenital Abnormalities
KOL-Index: 9285 . Bilateral periventricular nodular heterotopia (BPNH) is the most common form of periventricular heterotopia. Mutations in FLNA, encoding filamin A, are responsible for the X linked dominant form of BPNH (FLNA-BPNH). Recently, atypical phenotypes including BPNH with Ehlers-Danlos syndrome (BPNH-EDS) have been recognised. A total of 44 FLNA mutations have so far been reported in this ...
Known for Periventricular Nodular | Mutations Flna | Heterotopia Bpnh | Mutation Missense
KOL-Index: 9186 . Hirschsprung disease (HSCR) is a common malformation of neural-crest-derived enteric neurons that is frequently associated with other congenital abnormalities. The SMADIP1 gene recently has been recognized as disease causing in some patients with 2q22 chromosomal rearrangement, resulting in syndromic HSCR with mental retardation, with microcephaly, and with facial dysmorphism. We screened ...
Known for Hirschsprung Disease | Truncating Mutations | Multiple Child | Situ Hybridization
KOL-Index: 8670 . NALCN is a conserved cation channel, which conducts a permanent sodium leak current and regulates resting membrane potential and neuronal excitability. It is part of a large ion channel complex, the “NALCN channelosome”, consisting of multiple proteins including UNC80 and UNC79. The predominant neuronal expression pattern and its function suggest an important role in neuronal function and ...
Known for Genetic Variants | Ion Channel | Unc80 Unc79 | Neuronal Excitability
KOL-Index: 8653 . KBG syndrome, due to ANKRD11 alteration is characterized by developmental delay, short stature, dysmorphic facial features, and skeletal anomalies. We report a clinical and molecular study of 39 patients affected by KBG syndrome. Among them, 19 were diagnosed after the detection of a 16q24.3 deletion encompassing the ANKRD11 gene by array CGH. In the 20 remaining patients, the clinical ...
Known for Kbg Syndrome | Developmental Child Child | Ankrd11 Gene | Intellectual Disability
KOL-Index: 8597 . Bardet–Biedl syndrome (BBS), an emblematic disease in the rapidly evolving field of ciliopathies, is characterized by pleiotropic clinical features and extensive genetic heterogeneity. To date, 14 BBS genes have been identified, 3 of which have been found mutated only in a single BBS family each (BBS11/TRIM32, BBS13/MKS1 and BBS14/MKS4/NPHP6). Previous reports of systematic mutation ...
Known for Biedl Syndrome | Single Gene | Bbs Families | Previous Reports
KOL-Index: 8595 . Purpose:Treacher Collins/Franceschetti syndrome (TCS; OMIM 154500) is a disorder of craniofacial development belonging to the heterogeneous group of mandibulofacial dysostoses. TCS is classically characterized by bilateral mandibular and malar hypoplasia, downward-slanting palpebral fissures, and microtia. To date, three genes have been identified in TCS:,TCOF1, POLR1D, and ...
Known for Patients Tcs | Tcof1 Polr1d | Treacher Collins Syndrome | Craniofacial Development
KOL-Index: 8489 . The Kabuki (Niikawa-Kuroki) syndrome was reported in 1981 by Niikawa et al. [19] and Kuroki et al. [15] in a total of ten unrelated Japanese children with a characteristic array of multiple congenital anomalies and mental retardation. The syndrome is characterized by a distinct face, mild to moderate mental retardation, postnatal growth retardation, dermatoglyphic and skeletal ...
Known for Japanese Patients | Mental Retardation | Cleft Palate | Literature Review
KOL-Index: 8460 . Angelman syndrome (AS) is a neurological disorder with a heterogeneous genetic aetiology. It most frequently results from a de novo interstitial deletion in the 15q11-q13 region, but in a few cases it is caused by paternal uniparental disomy (UPD) or an imprinting mutation. The remaining 20 to 30% of AS patients exhibit biparental inheritance and a normal pattern of allelic methylation in ...
Known for Ube3a Mutations | Angelman Syndrome | Genetic Counselling | 14 Patients

Key People For Prenatal Diagnosis

Top KOLs in the world
Kypros Nicolaides Nicolaides†
cervical length gestational age maternal factors
John M Opitz
publication abnormalities rett syndrome prenatal diagnosis
Mitchell S Golbus
prenatal diagnosis chorionic villus sampling amniotic fluid
John C Hobbins
amniotic fluid prenatal diagnosis preterm labor
Charles H Rodeck
prenatal diagnosis fetal blood amniotic fluid
Joe Leigh Leigh Simpson
maternal blood prenatal diagnosis fetal cells

Département de Génétique Médicale, APHM, CHU Timone Enfants, Marseille, France | Department of Genetics, la Timone University Hospital, Marseille, France | Aix Marseille Université, MMG, INSERM, Marseille, France | Centre de Référence Anomalies du Dé