M Suri

Summary

Publications

  1. ncbi request reprint Relatively mild phenotype in a patient with interstitial 6q24.3-q25.2 deletion
    George A Tanteles
    Clinical Genetics Service, City Hospital, Nottingham, UK
    Clin Dysmorphol 16:101-4. 2007
  2. ncbi request reprint The phenotypic spectrum of ARX mutations
    Mohnish Suri
    Clinical Genetics Service, City Hospital, Nottingham, UK
    Dev Med Child Neurol 47:133-7. 2005
  3. ncbi request reprint Craniofacial syndromes
    Mohnish Suri
    Clinical Genetics Service, City Hospital, Nottingham NG5 1PB, UK
    Semin Fetal Neonatal Med 10:243-57. 2005
  4. ncbi request reprint Clinical and mutational spectrum of Mowat-Wilson syndrome
    Christiane Zweier
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Eur J Med Genet 48:97-111. 2005
  5. ncbi request reprint Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients
    Outi Makitie
    Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet A 125:278-84. 2004
  6. ncbi request reprint Asplenia in ATR-X syndrome: a second report
    Ronan T Leahy
    Regional Hospital, Limerick, Ireland
    Am J Med Genet A 139:37-9. 2005
  7. ncbi request reprint A microdeletion in Xp11.3 accounts for co-segregation of retinitis pigmentosa and mental retardation in a large kindred
    Lilei Zhang
    Predoctoral Training Program in Human Genetics, McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, MD, USA, and MRC Human Genetics Unit, Western General Hospital, Edinburgh, Scotland, UK
    Am J Med Genet A 140:349-57. 2006
  8. ncbi request reprint Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity
    Stephen P Robertson
    Department of Paediatrics and Child Health, Dunedin School of Medicine, Dunedin, New Zealand
    Am J Med Genet A 140:1726-36. 2006

Collaborators

  • L M Neumann
  • R E Stevenson
  • L Garavelli
  • O Makitie
  • A Rauch
  • Maarit M Peippo
  • W Reardon
  • Stephen P Robertson
  • Yanick Crow
  • R B Lowry
  • Martin Zenker
  • Christian T Thiel
  • George A Tanteles
  • Lilei Zhang
  • Ronan T Leahy
  • Christiane Zweier
  • Kate Martin
  • Katherine Yates
  • Charles E Schwartz
  • Alan F Wright
  • David Valle
  • Tao Wang
  • Richard J Gibbons
  • Paolo Bianchi
  • A Lachmeijer
  • Solveig Schulz
  • Andrea Bier
  • Gabriele Gillessen-Kaesbach
  • Nick R Dennis
  • Patricia Wheeler
  • Trine Prescott
  • Helen Firth
  • Susan Karstens
  • Cornelia Kraus
  • Koen Devriendt
  • Frits Beemer
  • Livija Medne
  • Maria Kibaek
  • Sirpa Ala-Mello
  • Jürgen Mücke
  • I Karen Temple
  • Ian Krantz
  • Anca Mannhardt
  • Lotte Nylandsted Krogh
  • Peter Meinecke
  • Roy K Philip
  • Boyan Dimitrov
  • Chris Fisher
  • Heide Seidel
  • Helena Kaariainen
  • Renata C Gallagher
  • Andreas Dufke
  • Olaf Rittinger
  • Louanne Hudgins
  • Sergio Bernasconi
  • Susan L Schelley
  • Marjo S van der Knaap
  • Baruch Yerushalmi

Detail Information

Publications8

  1. ncbi request reprint Relatively mild phenotype in a patient with interstitial 6q24.3-q25.2 deletion
    George A Tanteles
    Clinical Genetics Service, City Hospital, Nottingham, UK
    Clin Dysmorphol 16:101-4. 2007
    ..This is also the first patient with an interstitial 6q deletion and normal intellectual development. Cryptorchidism seems to be a recurrent finding in males with 6q deletions involving similar breakpoints...
  2. ncbi request reprint The phenotypic spectrum of ARX mutations
    Mohnish Suri
    Clinical Genetics Service, City Hospital, Nottingham, UK
    Dev Med Child Neurol 47:133-7. 2005
    ..Familiarity with the phenotypic spectrum of ARX mutations is helpful in determining when to request ARX mutation analysis...
  3. ncbi request reprint Craniofacial syndromes
    Mohnish Suri
    Clinical Genetics Service, City Hospital, Nottingham NG5 1PB, UK
    Semin Fetal Neonatal Med 10:243-57. 2005
    ..This review outlines a systematic approach to this problem and discusses the genetic aspects and clinical features of the common cranio-facial syndromes that can be diagnosed in the neonatal period...
  4. ncbi request reprint Clinical and mutational spectrum of Mowat-Wilson syndrome
    Christiane Zweier
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Eur J Med Genet 48:97-111. 2005
    ..The lack of missense mutations in MWS and MWS-like patients suggests there may be other, as yet unrecognized phenotypes, associated with missense mutations of this transcription factor...
  5. ncbi request reprint Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients
    Outi Makitie
    Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet A 125:278-84. 2004
    ..Despite overlap, both clinically and radiographically, with other forms of MED, the described features may help to differentiate this particular form from other entities within the MED spectrum...
  6. ncbi request reprint Asplenia in ATR-X syndrome: a second report
    Ronan T Leahy
    Regional Hospital, Limerick, Ireland
    Am J Med Genet A 139:37-9. 2005
    ..We now report on a second instance of a patient presenting with mental retardation and asplenia who has been shown to have a mutation at the ATR-X locus...
  7. ncbi request reprint A microdeletion in Xp11.3 accounts for co-segregation of retinitis pigmentosa and mental retardation in a large kindred
    Lilei Zhang
    Predoctoral Training Program in Human Genetics, McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, MD, USA, and MRC Human Genetics Unit, Western General Hospital, Edinburgh, Scotland, UK
    Am J Med Genet A 140:349-57. 2006
    ....
  8. ncbi request reprint Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity
    Stephen P Robertson
    Department of Paediatrics and Child Health, Dunedin School of Medicine, Dunedin, New Zealand
    Am J Med Genet A 140:1726-36. 2006
    ..This observation suggests that locus heterogeneity may exist for this disorder...