• Prenatal Diagnosis
    • Nicole Philip
    • 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 ...

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      Nicole Philip:Expert Impact

      Concepts for whichNicole Philiphas direct influence:Prenatal diagnosis,Human pair,22q11 microdeletion,Mental retardation,Situ hybridization,New case,Fragile site,Costello syndrome.

      Nicole Philip:KOL impact

      Concepts related to the work of other authors for whichfor 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

      Sample of concepts for which Nicole Philip is among the top experts in the world.
      Concept World rank
      severe evolution dbs #1
      holoprosencephaly smithlemliopitz #1
      trimester amniocentesis reports #1
      dgs deletion #1
      anterior vertical excess #1
      embryonal rhabdomyosarcoma occurrence #1
      ophn1 unpublished data #1
      placenta 21 cases #1
      discrepant karyotype findings #1
      workups atypical phenotype #1
      idiopathic characteristics #1
      dbs idiopathic #1
      22q112del diagnosis #1
      familial stickler syndrome #1
      placenta amniocytes #1
      mothers purpura #1
      mother chromosome analysis #1
      treatment 22q112 microdeletions #1
      14 measurements measurements #1
      patients 22q112del #1
      microdeletion 2q13 #1
      carbamazepine cognitive antiinfective #1
      characteristics 22q112 #1
      atypical autistic phenotype #1
      cdd prognosis #1
      fryns syndrome pregnancy #1
      height enfants #1
      extended special reference #1
      deleted parent #1
      fallot child pair #1
      craniofacial anthropometric #1
      multiple adult diaphragm #1
      smithlemliopitz holoprosencephaly #1
      velocardiofacial syndrome microdeletion #1
      greatgrandsons #1
      dysmorphism psychiatric disorders #1
      papillomata life #1
      dgs 60 #1
      22q11 patients #1
      fetal chromosomal constitution #1
      highrisk fetoplacental #1
      sensenbrenner syndrome sensenbrenner #1
      haploid tbx1 locus #1
      44monthold caucasian #1
      deletion female patients #1
      pediatric dysmorphologist #1

      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 a family of novel proteins related to an extracellular matrix (ECM) blastocoelar protein found in ...

      Known for Fraser Syndrome | Extracellular Matrix | Blebbed Phenotype | Mutations Fras1 | Inbred Strains Mice
      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 receptor signalling cascades in various cell types.

      METHODS AND RESULTS: CBL mutations were screened ...

      Known for Germline Mutations | Juvenile Myelomonocytic | Patients Jmml | Cbl Gene | Early Childhood
      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; chromosomal anomalies were not included. The prevalence rates of congenital anomalies at birth were ...

      Known for Congenital Anomalies | Prenatal Diagnosis | Prevalence Birth | Terminations Pregnancy | Multiple Abortion
      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 affected individuals (five familial and six sporadic cases) led to the detection of mutations in nine ...

      Known for Sall1 Mutation | Townes‐brocks Syndrome | Sporadic Cases | Sensorineural Humans | Human Pair
      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 initiate DEX in due time in CAH females, we proposed in 2002 a protocol for fetal sex determination in the ...

      Known for Congenital Adrenal | Fetal Sex | Prenatal Dex | Risk Cah | Maternal Serum
      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 previously described patients with TUBA1A mutations.

      RESULTS: We detected de novo TUBA1A mutations in six ...

      Known for Tuba1a Mutations | Cortical Dysgeneses | Lissencephaly Spectrum | Perisylvian Pachygyria | Internal Capsule
      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% of all the reported mutations, whereas all others are private. Most mutations are clustered in the ...

      Known for Atrx Syndrome | Nuclear Protein | Helicase Domain | Urogenital Abnormalities | Clinical Data
      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 phenotype. Most of these mutations lead to a truncated protein, but few missense mutations have also been ...

      Known for Periventricular Nodular | Mutations Flna | Heterotopia Bpnh | Mutation Missense | Common Form
      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 19 patients with HSCR and mental retardation and eventually identified large-scale SMADIP1 deletions ...

      Known for Hirschsprung Disease | Truncating Mutations | Multiple Child | Situ Hybridization | Mental Retardation
      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 disease. So far, biallelic NALCN and UNC80 variants have been described in a small number of ...

      Known for Genetic Variants | Ion Channel | Unc80 Unc79 | Neuronal Excitability | Infantile Hypotonia
      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 suspicion was confirmed by the identification of an ANKRD11 mutation by direct sequencing. We present ...

      Known for Kbg Syndrome | Developmental Child Child | Ankrd11 Gene | Intellectual Disability | Short Stature
      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 detection in large cohorts of BBS families (n > 90) have dealt only with a single gene, or at most small ...

      Known for Biedl Syndrome | Single Gene | Bbs Families | Previous Reports | Mutation Detection
      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 POLR1C.Methods:We report a clinical and extensive molecular study, including TCOF1, POLR1D, POLR1C, and EFTUD2 ...

      Known for Patients Tcs | Tcof1 Polr1d | Treacher Collins Syndrome | Craniofacial Development | Mandibulofacial Dysostoses
      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 abnormalities. In Japan, the syndrome appears to have an incidence of about 1∶32 000 newborns. Outside of Japan, ...

      Known for Japanese Patients | Mental Retardation | Cleft Palate | Literature Review | Clinical Data
      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 the 15q11-q13 region. In this latter group, mutations in the UBE3A gene have recently been shown to ...

      Known for Ube3a Mutations | Angelman Syndrome | Genetic Counselling | 14 Patients | Human Pair

      Key People For Prenatal Diagnosis

      Top KOLs in the world
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      amniotic fluid prenatal diagnosis preterm labor
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      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

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