• KOL
    • Marfan Syndrome
    • Raoul C M Hennekam
    • Raoul C M Hennekam: Influence Statistics

      Raoul C M Hennekam

      Raoul C M Hennekam

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      Department of Paediatrics, Amsterdam UMC—Location AMC, Amsterdam, The Netherlands | Department of Pediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The ...

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      Raoul C M Hennekam:Expert Impact

      Concepts for whichRaoul C M Hennekamhas direct influence:Marfan syndrome,Intellectual disability,Mental retardation,Doors syndrome,Publication abnormalities,Taybi syndrome,Pyrimidine metabolism,Smc1a variants.

      Raoul C M Hennekam:KOL impact

      Concepts related to the work of other authors for whichfor which Raoul C M Hennekam has influence:Marfan syndrome,Intellectual disability,Gene expression,Mental retardation,Human pair,Transcription factors,Situ hybridization.

      KOL Resume for Raoul C M Hennekam

      Year
      2022

      Department of Paediatrics, Amsterdam UMC—Location AMC, Amsterdam, The Netherlands

      2021

      Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.

      2020

      Department of Paediatrics, Room H7-236, Amsterdam UMC - location AMC, Meibergdreef 9, 1105AZ, Amsterdam, the Netherlands. Electronic address:

      2019

      Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands

      2018

      Department of Pediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands

      2017

      Department of Pediatrics and Translational Genetics, Academic Medical Center (AMC), University of Amsterdam, Amsterdam, The Netherlands;, OCULUS Asia, and, Department of Pediatrics and Adolescent Medicine, Centre for Genomic Sciences, LKS Faculty of Medicine, University of Hong Kong, Hong Kong, China;, Department of Social Sciences, Harvard University, Boston, MA, Department of Pediatrics, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, and, Department of Medical Genetics, T.C. Thompson Children's Hospital, Chattanooga, TN, USA;, Institute of Human Genetics, Medical Centre of the Johannes Gutenberg University, Mainz, and, Institute of Human Genetics, Medical Faculty, University Clinic, Magdeburg, Germany; Departments of, Oral and Maxillofacial Surgery, and, Pediatrics, S. Orsola-Malpighi Hospital, University of Bologna, Bologna, and, Department of Medical, Oral, and Biotechnological Sciences, University of G. d' Annunzio Chieti and Pescara, Chieti, Italy;, Unité de Génétique Clinique, Hôpital Mère-Enfant, CHU de Nantes, Nantes, France;, Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran;, Department of Stomatology, Special Care Dentistry Center, School of Dentistry, University of São Paulo, São Paulo, Brazil;, Department of Plastic and Reconstructive Surgery, University Hospital, Ghent, Belgium;, Department of Pediatrics, Institute of Medical Sciences, Genetic and Metabolic Clinic, Banaras Hindu University, Varanasi, India;, Department of Pediatrics, Perinatal Center, Tokushima University Hospital, Tokushima, Japan

      University of Amsterdam, the Netherlands

      2016

      University of Amsterdam Department of Paediatrics, Academic Medical Center Amsterdam the Netherlands

      2015

      Department of Pediatrics, Academic Medical Center, University of Amsterdam, 1100 DD Amsterdam, the Netherlands

      2014

      Departments of Paediatrics and Clinical Genetics, Emma Children’s Hospital, Academic Medical Center, Amsterdam, The Netherlands

      Raoul Hennekam is Professor of Pediatrics and of Translational Genetics at the University of Amsterdam, and Professor of Clinical Genetics and Dysmorphology at the University College London. He is a pediatrician and clinical geneticist with interest in intellectual disability, autism, dysmorphology, connective tissue disorders and rare syndromes, studying both phenotypes, molecular mechanisms and the natural history

      Department of Pediatrics, Emma Children's Hospital,

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      Sample of concepts for which Raoul C M Hennekam is among the top experts in the world.
      Concept World rank
      lymphedema lymphangiectasia #1
      patients classical hgps #1
      amsterdam gerardus vrolik #1
      facies foot #1
      37°c substitution #1
      rsts genetic heterogeneity #1
      update hydrops fetalis #1
      10 individuals #1
      cardiovascular problems age #1
      truncating atp6v1b2 #1
      1073 children cancer #1
      skin biopsy mutations #1
      human morphology goals #1
      screening instrument tps #1
      genetics united kingdom #1
      genetic variants dpyd #1
      inheritance autosomal #1
      developmental disturbances study #1
      fras1 mutation cases #1
      patients map2k1 mutation #1
      smc1a variants #1
      hematologic defects #1
      castori #1
      inborn errors peters #1
      biological material children #1
      cap zsd #1
      explanation slos #1
      homozygosity gli3 variant #1
      shoc2 mutationpositive patients #1
      intellectual disability trps #1
      mild form loss #1
      hypothalamus pituitary tissue #1
      gli3 analysis #1
      frequency cytogenetic anomalies #1
      chart height #1
      nipbl mosaic individuals #1
      patients ccbe1 mutation #1
      glucosyltransferases humans b3galtl #1
      14q syndrome #1
      disturbed growth regulation #1
      psis sequence analysis #1
      patients jatd #1
      screening instrument patient #1
      cdls phenotype parents #1
      32°c substitution #1
      nonimmune idiopathic #1
      frem2 fras1 frem2 #1
      large numbers regular #1
      familial occurrence gcmn #1
      detectable genetic defect #1
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      Prominent publications by Raoul C M Hennekam

      KOL-Index: 13879

      Cardio-facio-cutaneous (CFC) syndrome is a multiple congenital anomaly/mental retardation syndrome characterized by heart defects, a distinctive facial appearance, ectodermal abnormalities and mental retardation. Clinically, it overlaps with both Noonan syndrome and Costello syndrome, which are caused by mutations in two genes, PTPN11 and HRAS, respectively. Recently, we identified mutations in KRAS and BRAF in 19 of 43 individuals with CFC syndrome, suggesting that dysregulation of the ...

      Known for Costello Syndrome | Clinical Manifestations | Kras Braf | Patients Cfc | Map2k1 2
      KOL-Index: 13709

      Freeman-Sheldon syndrome, or distal arthrogryposis type 2A (DA2A), is an autosomal-dominant condition caused by mutations in MYH3 and characterized by multiple congenital contractures of the face and limbs and normal cognitive development. We identified a subset of five individuals who had been putatively diagnosed with "DA2A with severe neurological abnormalities" and for whom congenital contractures of the limbs and face, hypotonia, and global developmental delay had resulted in early ...

      Known for Novo Mutations | Developmental Delay | Limbs Hypotonia | Clifahdd Syndrome | Congenital Contractures
      KOL-Index: 13656

      Mutations in the GLI3 zinc-finger transcription factor gene cause Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS), which are variable but distinct clinical entities. We hypothesized that GLI3 mutations that predict a truncated functional repressor protein cause PHS and that functional haploinsufficiency of GLI3 causes GCPS. To test these hypotheses, we screened patients with PHS and GCPS for GLI3 mutations. The patient group consisted of 135 individuals: 89 ...

      Known for Phs Gcps | Gli3 Mutations | Greig Cephalopolysyndactyly | Hall Syndrome | Transcription Factors
      KOL-Index: 13361

      BACKGROUND: Genomic disorders are often caused by non-allelic homologous recombination between segmental duplications. Chromosome 16 is especially rich in a chromosome-specific low copy repeat, termed LCR16.

      METHODS AND RESULTS: A bacterial artificial chromosome (BAC) array comparative genome hybridisation (CGH) screen of 1027 patients with mental retardation and/or multiple congenital anomalies (MR/MCA) was performed. The BAC array CGH screen identified five patients with deletions and ...

      Known for Deletions Duplications | Disorders Chromosomes | Benign Variant | Chromosome Deletion | Mental Retardation
      KOL-Index: 13060

      BACKGROUND: Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome is a rare autosomal recessive disorder of unknown cause. We aimed to identify the genetic basis of this syndrome by sequencing most coding exons in affected individuals.

      METHODS: Through a search of available case studies and communication with collaborators, we identified families that included at least one individual with at least three of the five main features of the DOORS ...

      Known for Doors Syndrome | Tbc1d24 Mutations | Intellectual Disability Seizures | Onychodystrophy Osteodystrophy | Sensorineural Humans
      KOL-Index: 12483

      BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is a congenital disorder characterised by growth retardation, facial dysmorphisms, skeletal abnormalities and mental retardation. Broad thumbs and halluces are the hallmarks of the syndrome. RSTS is associated with chromosomal rearrangements and mutations in the CREB-binding protein gene (CREBBP), also termed CBP, encoding the CREB-binding protein. Recently, it was shown that mutations in EP300, coding for the p300 protein, also cause RSTS. ...

      Known for Taybi Syndrome | Rsts Patients | Mutations Ep300 | Genetic Heterogeneity | Broad Thumbs
      KOL-Index: 12329

      EEC syndrome is an autosomal dominant disorder characterized by ectrodactyly, ectodermal dysplasia, and facial clefts. We have mapped the genetic defect in several EEC syndrome families to a region of chromosome 3q27 previously implicated in the EEC-like disorder, limb mammary syndrome (LMS). Analysis of the p63 gene, a homolog of p53 located in the critical LMS/EEC interval, revealed heterozygous mutations in nine unrelated EEC families. Eight mutations result in amino acid ...

      Known for P53 Homolog P63 | Congenital Genes | Eec Syndrome | Germline Mutations | Amino Acid
      KOL-Index: 12299

      Rubinstein-Taybi syndrome (RSTS) is a developmental disorder characterized by a typical face and distal limbs abnormalities, intellectual disability, and a vast number of other features. Two genes are known to cause RSTS, CREBBP in 60% and EP300 in 8-10% of clinically diagnosed cases. Both paralogs act in chromatin remodeling and encode for transcriptional co-activators interacting with >400 proteins. Up to now 26 individuals with an EP300 mutation have been published. Here, we describe ...

      Known for Ep300 Mutations | Taybi Syndrome | Intellectual Disability | 52 Patients | Rsts Crebbp
      KOL-Index: 12254

      De novo germline variants in several components of the SWI/SNF-like BAF complex can cause Coffin-Siris syndrome (CSS), Nicolaides-Baraitser syndrome (NCBRS), and nonsyndromic intellectual disability. We screened 63 patients with a clinical diagnosis of CSS for these genes (ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, and SMARCE1) and identified pathogenic variants in 45 (71%) patients. We found a high proportion of variants in ARID1B (68%). All four pathogenic variants in ARID1A appeared ...

      Known for Siris Syndrome | Baf Complex | Arid1a Arid1b | Pathogenic Variants | Multiple Chromosomal Proteins
      KOL-Index: 11938

      PURPOSE: To establish normal values for lumbosacral dural sac dimensions with magnetic resonance (MR) imaging and to use these values to assess the sensitivity and specificity of dural ectasia as a marker for Marfan syndrome.

      MATERIALS AND METHODS: MR imaging was performed to measure dural sac diameter (DSD) from L1 through S1 in 44 adult patients with Marfan syndrome and in 44 matched control subjects. DSD values were corrected for vertebral body size, yielding dural sac ratios (DSRs). ...

      Known for Marfan Syndrome | Dural Ectasia | L1 S1 | Quantitative Assessment | Sensitivity Specificity
      KOL-Index: 11911

      Elevated transforming growth factor (TGF)-β signaling has been implicated in the pathogenesis of syndromic presentations of aortic aneurysm, including Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS). However, the location and character of many of the causal mutations in LDS intuitively imply diminished TGF-β signaling. Taken together, these data have engendered controversy regarding the specific role of TGF-β in disease pathogenesis. Shprintzen-Goldberg syndrome (SGS) has ...

      Known for Aortic Aneurysm | Goldberg Syndrome | Mfs Lds | Tgf Β | Syndromic Presentations
      KOL-Index: 11578

      Bardet-Biedl syndrome (BBS) is an autosomal recessive, genetically heterogeneous, pleiotropic human disorder characterized by obesity, retinopathy, polydactyly, renal and cardiac malformations, learning disabilities, and hypogenitalism. Eight BBS genes representing all known mapped loci have been identified. Mutation analysis of the known BBS genes in BBS patients indicate that additional BBS genes exist and/or that unidentified mutations exist in the known genes. To identify new BBS ...

      Known for Comparative Genomics | Gene Expression | Biedl Syndrome | Mutation Analysis | Homozygosity Mapping
      KOL-Index: 11534

      AIMS: To investigate the natural history of mitral valve and aortic abnormalities in patients with Marfan syndrome during childhood and adolescence.

      METHODS: Fifty two patients with Marfan syndrome were followed for a mean of 7.9 years. Occurrence of adverse cardiovascular outcomes was measured clinically and by ultrasound examination.

      RESULTS: Mitral valve prolapse (MVP) was diagnosed in 46 patients at a mean age of 9.7 years, more than 80% of whom presented as "silent MVP". Mitral ...

      Known for Marfan Syndrome | Aortic Dilatation | Cardiovascular Manifestations | Mitral Valve | Patients Mvp

      Key People For Marfan Syndrome

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      Department of Paediatrics, Amsterdam UMC—Location AMC, Amsterdam, The Netherlands | Department of Pediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands. | Department of Pediatrics, Emma Children's Hospital, Amsterda

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