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MAXIMILIAN MUENKE, M.D.
M.D.
NPI: 1477985851Individual
Specialties, Licenses & Credentials
Clinical Genetics (M.D.) PhysicianPrimary
Medical Genetics — Clinical Genetics (M.D.)
Code: 207SG0201X
MD040772L(PA)D0066787(MD)
Research & Publications (20)
Latent class subtyping of attention-deficit/hyperactivity disorder and comorbid conditions.
PMID 18520958·J Am Acad Child Adolesc Psychiatry·2008
8-other
Genetics of ventral forebrain development and holoprosencephaly.
PMID 10826992·Curr Opin Genet Dev·2000
6-review
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.
PMID 19346217·J Med Genet·2009
8-other
Elements of morphology: standard terminology for the head and face.
PMID 19125436·Am J Med Genet A·2009
8-other
The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.
PMID 19603532·Hum Mutat·2009
8-other
A novel SIX3 mutation segregates with holoprosencephaly in a large family.
PMID 19353631·Am J Med Genet A·2009
8-other
Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans.
PMID 19184110·Hum Genet·2009
7-preclinical
The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.
PMID 19177455·Hum Mutat·2009
8-other
Maternally inherited heterozygous sequence change in the sonic hedgehog gene in a male patient with bilateral closed-lip schizencephaly and partial absence of the corpus callosum.
PMID 19533790·Am J Med Genet A·2009
5-case
Mutations in the human SIX3 gene in holoprosencephaly are loss of function.
PMID 18791198·Hum Mol Genet·2008
4-observational
Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.
PMID 18792984·Am J Med Genet A·2008
8-other
Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein.
PMID 18836447·Nat Genet·2008
7-preclinical
Locus homogeneity between syndactyly type 1A and craniosynostosis Philadelphia type?
PMID 18680190·Am J Med Genet A·2008
8-other
Meta-analysis of genome-wide linkage scans of attention deficit hyperactivity disorder.
PMID 18988193·Am J Med Genet B Neuropsychiatr Genet·2008
1-meta
Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly.
PMID 18538293·Am J Hum Genet·2008
7-preclinical
Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.
PMID 17924340·Am J Hum Genet·2007
7-preclinical
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.
PMID 18000976·Am J Med Genet A·2007
8-other
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 5131 DUDLEY LN
BETHESDA, MD 20814 - Phone
- (301) 273-5250
Quick Facts
- NPI
- 1477985851
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 2
- Locations
- 1
- Publications
- 20
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