Aleksander Jamsheer


Ontology type: schema:Person     


Person Info

NAME

Aleksander

SURNAME

Jamsheer

Publications in SciGraph latest 50 shown

  • 2019-04 Duplication of 10q24 locus: broadening the clinical and radiological spectrum in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-11 Correction to: Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation in JOURNAL OF APPLIED GENETICS
  • 2018-08 Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation in JOURNAL OF APPLIED GENETICS
  • 2018-06 Noncoding copy-number variations are associated with congenital limb malformation in GENETICS IN MEDICINE
  • 2017-11 Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-12 Life-threatening cardiac episode in a Polish patient carrying contiguous gene microdeletion of the TBX5 and the TBX3 genes in SPRINGERPLUS
  • 2016-07 Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency in JOURNAL OF HUMAN GENETICS
  • 2016-05 Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene in JOURNAL OF HUMAN GENETICS
  • 2015-05 Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene in JOURNAL OF APPLIED GENETICS
  • 2014-12 Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families in ORPHANET JOURNAL OF RARE DISEASES
  • 2014-05 Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses in JOURNAL OF APPLIED GENETICS
  • 2014-02 Split-hand/foot malformation - molecular cause and implications in genetic counseling in JOURNAL OF APPLIED GENETICS
  • 2013-12 Epidemiology of isolated preaxial polydactyly type I: Data from the Polish Registry of Congenital Malformations (PRCM) in BMC PEDIATRICS
  • 2013-12 Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3 in BMC MEDICAL GENETICS
  • 2012-12 Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report in BMC MEDICAL GENETICS
  • 2012-11 Expanded mutational spectrum of the GLI3 gene substantiates genotype–phenotype correlations in JOURNAL OF APPLIED GENETICS
  • 2011-12 MIA is a potential biomarker for tumour load in neurofibromatosis type 1 in BMC MEDICINE
  • 2010-12 Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively - coincidence within one family in BMC MEDICAL GENETICS
  • 2009-12 A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in theTGFBR2 gene substantiates interindividual clinical variability in JOURNAL OF APPLIED GENETICS
  • 2009-09 A novelGJA1 missense mutation in a Polish child with oculodentodigital dysplasia in JOURNAL OF APPLIED GENETICS
  • 2008-12 Subtle familial translocation t(11;22)(q24.2;q13.33) resulting in Jacobsen syndrome and distal trisomy 22q13.3: further details of genotype—phenotype maps in JOURNAL OF APPLIED GENETICS
  • Affiliations

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