Erich Roessler


Ontology type: schema:Person     


Person Info

NAME

Erich

SURNAME

Roessler

Publications in SciGraph latest 50 shown

  • 2019-04 Low-level parental mosaicism affects the recurrence risk of holoprosencephaly in GENETICS IN MEDICINE
  • 2018-01 Erratum: In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics in GENETICS IN MEDICINE
  • 2018-01 In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics in GENETICS IN MEDICINE
  • 2012-07 A cooperative interaction between LPHN3 and 11q doubles the risk for ADHD in MOLECULAR PSYCHIATRY
  • 2012-02 Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH in HUMAN GENETICS
  • 2011-01 Clinical utility gene card for: Holoprosencephaly in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2010-11 A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication in MOLECULAR PSYCHIATRY
  • 2010-05 Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly in HUMAN GENETICS
  • 2009-05 Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans in HUMAN GENETICS
  • 2008-11 Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein in NATURE GENETICS
  • 2003-07 SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity in HUMAN GENETICS
  • 2002-10 Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly in HUMAN GENETICS
  • 2002-05 A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects in HUMAN GENETICS
  • 2002-04 Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly in HUMAN GENETICS
  • 2000-11 Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects in NATURE GENETICS
  • 2000-06 Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination in NATURE GENETICS
  • 1999-11 The molecular genetics of holoprosencephaly: a model of brain development for the next century in CHILD'S NERVOUS SYSTEM
  • 1999-11 Structure of the human Lanosterol Synthase gene and its analysis as a candidate for holoprosencephaly (HPE1) in HUMAN GENETICS
  • 1999-06 Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome in HUMAN GENETICS
  • 1999-06 Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly in NATURE GENETICS
  • 1998-08 Holoprosencephaly: A paradigm for the complex genetics of brain development in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1998-04 Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly in HUMAN GENETICS
  • 1997-07 Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly in HUMAN GENETICS
  • 1996-11 Mutations in the human Sonic Hedgehog gene cause holoprosencephaly in NATURE GENETICS
  • 1996-11 Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly in NATURE GENETICS
  • 1992 The Interleukin-2 Receptor: A Target for Immunotherapy in MECHANISMS OF LYMPHOCYTE ACTIVATION AND IMMUNE REGULATION IV
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