M. Shoukier

发表

Brain-derived neurotrophic factor (BDNF) gene polymorphisms shape cortical plasticity in humans

Walter Paulus, Andrea Antal, Michael A. Nitsche, 2010, Brain Stimulation.

LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death

P. Kirchhof, M. Shoukier, C. Kubisch, 2022, Genes.

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

T. Strom, M. Lek, B. Lenhard, 2018, Brain : a journal of neurology.

A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect

M. Shoukier, J. Schröder, K. Brockmann, 2012, American journal of medical genetics. Part A.

Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D

D. Steinemann, M. Shoukier, G. Escherich, 2012, American journal of medical genetics. Part A.

Validation of three BRCA1/2 mutation-carrier probability models Myriad, BRCAPRO and BOADICEA in a population-based series of 183 German families

M. Shoukier, A. Rosenberger, M. Sander, 2011, Familial Cancer.

Hereditary papillary renal cell carcinoma primarily diagnosed in a cervical lymph node: a case report of a 30-year-old woman with multiple metastases

M. Shoukier, F. Henschke, F. Bremmer, 2013, BMC Urology.

Evaluating the effect of spastin splice mutations by quantitative allele‐specific expression assay

M. Shoukier, A. Zibat, S. Klimpe, 2011, European journal of neurology.

A newborn with hereditary haemorrhagic telangiectasia and an unusually severe phenotype.

M. Shoukier, K. Nayernia, J. Wirbelauer, 2008, Swiss medical weekly.

An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome‐like phenotype in a female patient

T. Liehr, M. Shoukier, P. Burfeind, 2010, Clinical genetics.

A de novo interstitial deletion of 2p23.3–24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathy

M. Shoukier, J. Schröder, A. Mohr, 2012, American journal of medical genetics. Part A.

Functional evaluation of paraplegin mutations by a yeast complementation assay

T. Langer, M. Shoukier, F. Bonn, 2010, Human mutation.

Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?

M. Shoukier, J. Schröder, J. Gärtner, 2013, Clinical genetics.

Germline deletion of CIN85 in humans with X chromosome–linked antibody deficiency

M. Shoukier, K. Warnatz, Baerbel Keller, 2018, The Journal of experimental medicine.

Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia

M. Shoukier, A. Mannan, J. Neesen, 2009, European Journal of Human Genetics.

Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes.

M. Shoukier, B. Zoll, P. Burfeind, 2012, European journal of medical genetics.

Polymorphism of the brain-derived neurotrophic factor and dynamics of the seizure threshold of electroconvulsive therapy

M. Shoukier, C. Stephani, C. Wolff-Menzler, 2017, European Archives of Psychiatry and Clinical Neuroscience.

Multifocal capillary malformations due to RASA1 mutation misdiagnosed as cutaneous mastocytosis.

T. Buhl, M. Shoukier, M. Schön, 2012, Archives of dermatology.

Hermansky-Pudlak-Syndrom

M. Shoukier, M. Schittkowski, J. Lübke, 2013, Der Ophthalmologe.

Normal intelligence and premature ovarian failure in an adult female with a 7.6 Mb de novo terminal deletion of chromosome 9p.

M. Shoukier, C. Netzer, N. Reintjes, 2013, European journal of medical genetics.

Pathways of proliferation and antiapoptosis driven in breast cancer stem cells by stem cell protein piwil2.

J. Hengstler, C. Robson, M. Shoukier, 2010, Cancer research.

Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion

M. Shoukier, K. Brockmann, B. Auber, 2011, American journal of medical genetics. Part A.

Branchio-Otic Syndrome Caused by a Genomic Rearrangement: Clinical Findings and Molecular Cytogenetic Studies in a Patient with a Pericentric Inversion of Chromosome 8

F. Kortüm, T. Liehr, M. Shoukier, 2013, Cytogenetic and Genome Research.

The transcription factor Bcl11b promotes both canonical and adaptive NK cell differentiation

R. Månsson, Joseph C. Sun, M. Shoukier, 2021, Science Immunology.

Ring chromosome 22 and neurofibromatosis type II: proof of two‐hit model for the loss of the NF2 gene in the development of meningioma

M. Shoukier, L. Arning, S. Hoffjan, 2012, Clinical genetics.

A 3p interstitial deletion in two monozygotic twin brothers and an 18‐year‐old man: Further characterization and review

M. Shoukier, B. Zoll, P. Burfeind, 2013, American journal of medical genetics. Part A.

In-Frame Insertion Mutation in the SPG11 Gene Causes Autosomal Recessive Spastic Paraplegia with Thin Corpus Callosum “In A” Turkish Family with Late Age of Onset of the Phenotype

I. Zerr, S. Mosalaganti, M. Shoukier, 2015 .

Microduplication of 3p26.3 in Nonsyndromic Intellectual Disability Indicates an Important Role of CHL1 for Normal Cognitive Function

M. Shoukier, J. Gärtner, K. Brockmann, 2013, Neuropediatrics.

Brain-derived neurotrophic factor gene polymorphisms shape cortical plasticity in humans

M. Nitsche, A. Antal, W. Paulus, 2009 .

Generalized Arterial Calcification of Infancy Type 1 (GACI1): Identification of a Novel Pathogenic Variant (c.1715T>C (p.Leu572Ser))

C. Bagowski, M. Barbareschi, M. Shoukier, 2021, Diagnostics.

Characterization of five novel large deletions causing hereditary haemorrhagic telangiectasia

M. Shoukier, W. Engel, A. Weise, 2008, Clinical genetics.

Missense mutations in CASK, coding for the calcium‐/calmodulin‐dependent serine protein kinase, interfere with neurexin binding and neurexin‐induced oligomerization

M. Missler, G. Mirzaa, M. Shoukier, 2021 .

Missense mutations in CASK interfere with neurexin binding and neurexin-induced oligomerization.

M. Missler, G. Mirzaa, M. Shoukier, 2020, Journal of neurochemistry.

BDNF Gene Polymorphisms and Motor Cortical Plasticity in Healthy Humans : When Should We Consider It ?

A. Antal, W. Paulus, L. Chaieb, 2015 .

Validation of three BRCA1/2 mutation-carrier probability models Myriad, BRCAPRO and BOADICEA in a population-based series of 183 German families

M. Shoukier, A. Rosenberger, M. Sander, 2011, Familial Cancer.

Dysregulation of FLVCR1a-dependent mitochondrial calcium handling in neural progenitors causes congenital hydrocephalus

M. Shoukier, F. Altruda, E. Tolosano, 2024, Cell reports. Medicine.