Maximilian Muenke


Ontology type: schema:Person     


Person Info

NAME

Maximilian

SURNAME

Muenke

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
  • 2017-08 Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-12 Retrospective assessment of childhood ADHD symptoms for diagnosis in adults: validity of a short 8-item version of the Wender-Utah Rating Scale in ADHD ATTENTION DEFICIT AND HYPERACTIVITY DISORDERS
  • 2016-11 Towards a more representative morphology: clinical and ethical considerations for including diverse populations in diagnostic genetic atlases in GENETICS IN MEDICINE
  • 2016-11 An electronic atlas of human malformation syndromes in diverse populations in GENETICS IN MEDICINE
  • 2016-10 Linkage and association analysis of ADHD endophenotypes in extended and multigenerational pedigrees from a genetic isolate in MOLECULAR PSYCHIATRY
  • 2012-12 Analysis of brain metabolism by proton magnetic resonance spectroscopy (1H-MRS) in attention-deficit/hyperactivity disorder suggests a generalized differential ontogenic pattern from controls in ADHD ATTENTION DEFICIT AND HYPERACTIVITY DISORDERS
  • 2012-09 Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses in CHILD'S NERVOUS SYSTEM
  • 2012-09 Phenotype profile of a genetic mouse model for Muenke syndrome in CHILD'S NERVOUS SYSTEM
  • 2012-07 A cooperative interaction between LPHN3 and 11q doubles the risk for ADHD in MOLECULAR PSYCHIATRY
  • 2012-06 The genetics of addiction in HUMAN GENETICS
  • 2012-06 A common genetic network underlies substance use disorders and disruptive or externalizing disorders in HUMAN GENETICS
  • 2012-02 Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH in HUMAN GENETICS
  • 2011-12 Genetic–environmental interaction in a unique case of Muenke syndrome with intracranial hypertension in CHILD'S NERVOUS SYSTEM
  • 2011-09 Potential cognitive endophenotypes in multigenerational families: segregating ADHD from a genetic isolate in ADHD ATTENTION DEFICIT AND HYPERACTIVITY DISORDERS
  • 2011-06 Holoprosencephaly: A guide to diagnosis and clinical management in INDIAN PEDIATRICS
  • 2011-01 Clinical utility gene card for: Holoprosencephaly in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2010-11 Toward a better understanding of ADHD: LPHN3 gene variants and the susceptibility to develop ADHD in ADHD ATTENTION DEFICIT AND HYPERACTIVITY DISORDERS
  • 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 Polymorphisms in the neural nicotinic acetylcholine receptor α4 subunit (CHRNA4) are associated with ADHD in a genetic isolate in ADHD ATTENTION DEFICIT AND HYPERACTIVITY DISORDERS
  • 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
  • 2004-11 FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis in HUMAN GENETICS
  • 2004-03 Pedigree disequilibrium test (PDT) replicates association and linkage between DRD4 and ADHD in multigenerational and extended pedigrees from a genetic isolate in MOLECULAR PSYCHIATRY
  • 2004-02 Attention deficit/hyperactivity disorder (ADHD): Complex phenotype, simple genotype? in GENETICS IN MEDICINE
  • 2003-07 SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity in HUMAN GENETICS
  • 2003-04 Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2002-12 Cbfβ interacts with Runx2 and has a critical role in bone development in NATURE GENETICS
  • 2002-10 Central Nervous System Embryogenesis and Its Failures in PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
  • 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
  • 2001-07 Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population 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
  • 1999-12-14 Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8 in HUMAN GENETICS
  • 1999-12 Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8 in HUMAN 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
  • 1999-09 Familial dementia caused by polymerization of mutant neuroserpin in NATURE
  • 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
  • 1998-10 Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired 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
  • 1998 Fibroblast Growth Factor Receptor-Related Skeletal Disorders in PRINCIPLES OF MOLECULAR MEDICINE
  • 1997-11 Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22 in NATURE GENETICS
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