about
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain.Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephalyLoss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humansEpilepsy in Muenke syndrome: FGFR3-related craniosynostosisTowards a more representative morphology: clinical and ethical considerations for including diverse populations in diagnostic genetic atlasesMutations in the human Sonic Hedgehog gene cause holoprosencephalyStructure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)Association between conformational mutations in neuroserpin and onset and severity of dementiaMutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephalyA common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medicationGenomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosisCbfbeta interacts with Runx2 and has a critical role in bone developmentDe Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive DysmorphismsGenomic structure, sequence, and mapping of humanFGF8 with no evidence for its role in craniosynostosis/limb defect syndromesHoloprosencephaly and ectrodactyly: Report of three new patients and review of the literature.Holoprosencephaly and craniosynostosis: A report of two siblings and review of the literatureCurrent recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patientsThe molecular genetics of holoprosencephaly.Holoprosencephaly due to numeric chromosome abnormalities.Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature.Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism.Noonan syndrome.Attention-deficit/hyperactivity disorder in a population isolate: linkage to loci at 4q13.2, 5q33.3, 11q22, and 17p11.Genetic-environmental interaction in a unique case of Muenke syndrome with intracranial hypertensionThe genetics of addiction.Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses.Meta-analysis of genome-wide linkage scans of attention deficit hyperactivity disorderNew syndrome of congenital circumferential skin folds associated with multiple congenital anomalies.Abnormal sterol metabolism in holoprosencephalyADHD latent class clusters: DSM-IV subtypes and comorbidity.Hearing loss in syndromic craniosynostoses: introduction and consideration of mechanismsPhenotype profile of a genetic mouse model for Muenke syndrome.Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31.Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis.Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1.Review: Genetics of attention deficit/hyperactivity disorder.Central nervous system embryogenesis and its failures.Multiple hits during early embryonic development: digenic diseases and holoprosencephaly
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Maximilian Muenke
@ast
Maximilian Muenke
@en
Maximilian Muenke
@es
Maximilian Muenke
@nl
type
label
Maximilian Muenke
@ast
Maximilian Muenke
@en
Maximilian Muenke
@es
Maximilian Muenke
@nl
prefLabel
Maximilian Muenke
@ast
Maximilian Muenke
@en
Maximilian Muenke
@es
Maximilian Muenke
@nl
P106
P1153
57205517136
7005689389
P21
P31
P496
0000-0002-7719-6545