Britt Marie Anderlid

Summary

Affiliation: Karolinska Institutet
Country: Sweden

Publications

  1. ncbi Subtelomeric rearrangements detected in patients with idiopathic mental retardation
    Britt Marie Anderlid
    Department of Molecular Medicine, Clinical Genetic Unit, Karolinska Hospital, Stockholm, Sweden
    Am J Med Genet 107:275-84. 2002
  2. ncbi Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment
    Britt Marie Anderlid
    Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Institutet at Karolinska Hospital, Stockholm, Sweden
    Eur J Hum Genet 11:89-92. 2003
  3. ncbi Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy
    B M Anderlid
    Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Institutet, Stockholm, Sweden
    Am J Med Genet 99:223-33. 2001
  4. ncbi FISH-mapping of a 100-kb terminal 22q13 deletion
    Britt Marie Anderlid
    Department of Molecular Medicine, CMM, L8 02, Clinical Genetics Unit, Karolinska Institutet at Karolinska Hospital, 171 76 Stockholm, Sweden
    Hum Genet 110:439-43. 2002
  5. ncbi Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to approximately 650 kb
    Jacqueline Schoumans
    Department of Molecular Medicine, Karolinska Hospital, CMM L8 02, 171 76 Stockholm, Sweden
    Eur J Med Genet 48:290-300. 2005
  6. ncbi A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined size
    Jacqueline Schoumans
    Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Institute, CMM L8 02, Stockholm SE 17176, Sweden
    Eur J Hum Genet 12:447-54. 2004
  7. doi Molecular and clinical characterization of patients with overlapping 10p deletions
    Anna Lindstrand
    Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
    Am J Med Genet A 152:1233-43. 2010
  8. doi An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities
    Anna Bremer
    Department of Molecular Medicine and Surgery, Karolinska University Hospital, Stockholm, Sweden
    Eur J Med Genet 52:358-62. 2009
  9. ncbi Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome
    Jacqueline Schoumans
    Department of Molecular Medicine, Karolinska Hospital, CMM L8 02, Stockholm SE 17176, Sweden
    Eur J Hum Genet 13:260-3. 2005
  10. doi De novo deletion of chromosome 11q13.4-q14.3 in a boy with microcephaly, ptosis and developmental delay
    Josephine Wincent
    Department of Molecular Medicine and Surgery and Center for Molecular Medicine, CMM L8 02, Karolinska Institutet, Karolinska University Hospital, 171 76 Stockholm, Sweden
    Eur J Med Genet 53:50-3. 2010

Collaborators

Detail Information

Publications25

  1. ncbi Subtelomeric rearrangements detected in patients with idiopathic mental retardation
    Britt Marie Anderlid
    Department of Molecular Medicine, Clinical Genetic Unit, Karolinska Hospital, Stockholm, Sweden
    Am J Med Genet 107:275-84. 2002
    ..However, SKY detected the subtelomeric rearrangement in three of the four unbalanced translocations. Dysmorphic features were present in all patients with detected subtelomeric rearrangements...
  2. ncbi Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment
    Britt Marie Anderlid
    Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Institutet at Karolinska Hospital, Stockholm, Sweden
    Eur J Hum Genet 11:89-92. 2003
    ..The forkhead transcription factor gene FOXC1, involved in a spectrum of anterior eye chamber disorders, is deleted in this patient, together with several characterised and putative genes with yet unknown function...
  3. ncbi Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy
    B M Anderlid
    Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Institutet, Stockholm, Sweden
    Am J Med Genet 99:223-33. 2001
    ..Eight of the families were also investigated for uniparental disomy (UPD) using microsatellite analysis. One case with maternal UPD 9 was found in a child with a ring chromosome derived from chromosome 9, r(9)(p10p12)...
  4. ncbi FISH-mapping of a 100-kb terminal 22q13 deletion
    Britt Marie Anderlid
    Department of Molecular Medicine, CMM, L8 02, Clinical Genetics Unit, Karolinska Institutet at Karolinska Hospital, 171 76 Stockholm, Sweden
    Hum Genet 110:439-43. 2002
    ..ACR and RABL2B are deleted and proSAP2 is disrupted. This observation, together with recently published data, supports the notion that proSAP2 is the most important contributor to the 22q13 deletion phenotype...
  5. ncbi Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to approximately 650 kb
    Jacqueline Schoumans
    Department of Molecular Medicine, Karolinska Hospital, CMM L8 02, 171 76 Stockholm, Sweden
    Eur J Med Genet 48:290-300. 2005
    ..This case enabled the refinement of the SMS minimum deletion to approximately 650 kb containing eight putative genes and one predicted gene. In addition, it demonstrates the importance to investigate deletion of RAI1 in SMS patients...
  6. ncbi A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined size
    Jacqueline Schoumans
    Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Institute, CMM L8 02, Stockholm SE 17176, Sweden
    Eur J Hum Genet 12:447-54. 2004
    ....
  7. doi Molecular and clinical characterization of patients with overlapping 10p deletions
    Anna Lindstrand
    Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
    Am J Med Genet A 152:1233-43. 2010
    ..A critical region involved in mental retardation and speech impairment is defined within 1.6 Mb in 10p15.3. In addition, deletion of 4.3 Mb within 10p14 is associated with autism and characteristic clinical findings...
  8. doi An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities
    Anna Bremer
    Department of Molecular Medicine and Surgery, Karolinska University Hospital, Stockholm, Sweden
    Eur J Med Genet 52:358-62. 2009
    ..Mice with homozygous deletions in ATXN1 are phenotypically normal but show cognitive delay. Haploinsufficiency of ATXN1 may therefore contribute to the learning difficulties observed in the patients harboring a 6p22 deletion...
  9. ncbi Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome
    Jacqueline Schoumans
    Department of Molecular Medicine, Karolinska Hospital, CMM L8 02, Stockholm SE 17176, Sweden
    Eur J Hum Genet 13:260-3. 2005
    ..We conclude that the etiology of KS remains to be solved and further genetic studies are necessary to delineate its genetic cause...
  10. doi De novo deletion of chromosome 11q13.4-q14.3 in a boy with microcephaly, ptosis and developmental delay
    Josephine Wincent
    Department of Molecular Medicine and Surgery and Center for Molecular Medicine, CMM L8 02, Karolinska Institutet, Karolinska University Hospital, 171 76 Stockholm, Sweden
    Eur J Med Genet 53:50-3. 2010
    ..2 Mb deletion. The main clinical features included microcephaly, ptosis and moderate developmental delay. The symptoms partially overlap with previously reported patients with a deletion in the same region...
  11. doi Copy number variation characteristics in subpopulations of patients with autism spectrum disorders
    Anna Bremer
    Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
    Am J Med Genet B Neuropsychiatr Genet 156:115-24. 2011
    ....
  12. pmc Molecular and clinical delineation of the 17q22 microdeletion phenotype
    Tobias Laurell
    1 Department of Clinical Science and Education, Sodersjukhuset, Karolinska Institutet, Stockholm, Sweden 2 Department of Molecular Medicine and Surgery and Center of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden 3 Department of Hand Surgery, Sodersjukhuset, Stockholm, Sweden
    Eur J Hum Genet 21:1085-92. 2013
    ..We conclude that these common clinical features indicate a novel clinically recognizable, 17q22 contiguous microdeletion syndrome...
  13. ncbi Detailed clinical description of four patients with 1.3 and 2.1 Mb chromosome imbalances derived from a familial t(12;17)(q24.33;q25.3)
    Jacqueline Schoumans
    Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Institute, Stockholm, Sweden
    Am J Med Genet A 134:254-8. 2005
    ..This family illustrates that small chromosome imbalances can be detected in individuals with mild phenotype and normal, or near-normal, cognitive functions...
  14. pmc Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA
    Michela Barbaro
    Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
    Eur J Hum Genet 17:1439-47. 2009
    ..The results are compared with other patients described in the literature, and new aspects of sex reversal and the 9p deletion syndrome candidate regions are discussed...
  15. doi A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT
    Malin Kvarnung
    Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
    J Med Genet 50:521-8. 2013
    ....
  16. doi Different mutations in PDE4D associated with developmental disorders with mirror phenotypes
    Anna Lindstrand
    Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
    J Med Genet 51:45-54. 2014
    ..The purpose of the present study was to investigate clinical and cellular implications of different types of mutations in the PDE4D gene...
  17. doi First-degree relatives of young children with autism spectrum disorders: some gender aspects
    Mats Anders Eriksson
    Department of Women s and Children s Health, Karolinska Institutet, Stockholm, Sweden Karolinska Institutet, Center of Neurodevelopmental Disorders, Stockholm, Sweden
    Res Dev Disabil 33:1642-8. 2012
    ..The high rate of parents of non-European origin has been noted in many Swedish studies of ASD, but the reason for this association, remains unclear...
  18. doi Small mosaic deletion encompassing the snoRNAs and SNURF-SNRPN results in an atypical Prader-Willi syndrome phenotype
    Britt Marie Anderlid
    Department of Molecular Medicine and Surgery, Clinal Genetic Unit, Centre of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden
    Am J Med Genet A 164:425-31. 2014
    ..Furthermore, it examplifies diagnostic difficulties in atypical cases and illustrates the need for additional testing methods when Prader-Willi syndrome is suspected...
  19. ncbi Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD)
    Xiao Lei Zhou
    Department of Clinical Genetics, CMM, Karolinska University Hospital, Stockholm, Sweden
    Am J Med Genet B Neuropsychiatr Genet 144:351-4. 2007
    ....
  20. doi Partial tetrasomy 14 associated with multiple malformations
    Johanna Winberg
    Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    Am J Med Genet A 161:1284-90. 2013
    ..Isodicentric chromosomes involving partial 14q have previously been reported in four cases; however, this is the first patient with tetrasomy 14p13q13.1 in non-mosaic form surviving beyond infancy...
  21. doi Chimerism resulting from parthenogenetic activation and dispermic fertilization
    Johanna Winberg
    Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    Am J Med Genet A 152:2277-86. 2010
    ..It also highlights the difficulties in predicting the clinical outcome in patients with genetic aberrations in mosaic or chimeric form...
  22. ncbi Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients
    Jacqueline Schoumans
    Department of Molecular Medicine and Surgery, Karolinska Institute, Karolinska University Hospital Solna, Stockholm, Sweden
    Eur J Hum Genet 15:143-9. 2007
    ..However, in a considerable proportion of individuals demonstrating the CdLS phenotype, mutations in any of these two genes are not found and other potential loci harboring additional CdLS-causing genes should be considered...
  23. ncbi A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
    David A Koolen
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Nat Genet 38:999-1001. 2006
    ..The deletions encompass the MAPT and CRHR1 genes and are associated with a common inversion polymorphism...
  24. ncbi Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome
    Douglas R Stewart
    Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 128:340-51. 2004
    ..2 Mb interval containing 14 known transcripts. The majority of the proximal deletion breakpoints fall within a 400 kb interval between SNP markers C12020842 proximally and C80658 distally suggesting a common breakpoint in this interval...
  25. ncbi Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches
    David A Koolen
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Eur J Hum Genet 16:395-400. 2008
    ..On the basis of these data, we propose that the use of genome-wide microarrays is indicated when testing for copy-number changes in individuals with idiopathic mental retardation...