Publications by authors named "Moneef Shoukier"

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Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.
Gabriel N Aughey, Elisa Cali, Reza Maroofian, Maha S Zaki, Alistair T Pagnamenta, Moneef Shoukier

Brain· April 2025

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Dysregulation of FLVCR1a-dependent mitochondrial calcium handling in neural progenitors causes congenital hydrocephalus.
Francesca Bertino, Dibyanti Mukherjee, Massimo Bonora, Christoph Bagowski, Jeannette Nardelli, Moneef Shoukier

Cell Rep Med· July 2024

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De novo heterozygous missense variants in as cause of fetal pleural effusions and progressive fetal hydrops.
Maayke A de Koning, Paula A Pimienta Ramirez, Monique C Haak, Xiao Han, Martina Ha Ruiterkamp-Versteeg, Moneef Shoukier

J Med Genet· May 2024

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Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder.
Gabriel Aughey, Elisa Cali, Reza Maroofian, Maha S Zaki, Alistair T Pagnamenta, Moneef Shoukier

medRxiv· May 2024

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Prenatal Diagnosis of Fryns Syndrome through Identification of Two Novel Splice Variants in the Gene-A Case Series.
Aruna Marchetto, Susanne Leidescher, Theresia van Hoi, Niklas Hirschberger, Florian Vogel, Moneef Shoukier

Life (Basel)· May 2024

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Atypical Parkinsonism with Pathological Dopamine Transporter Imaging in Neuronal Ceroid Lipofuscinosis Type 5.
Lara M Lange, Nathalie Schell, Sinem Tunc, Moneef Shoukier, Anne Weißbach

Mov Disord Clin Pract· November 2022

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Mutation in a Family with a Strong History of Sudden Cardiac Death.
Laura Keil, Filip Berisha, Dorit Knappe, Christian Kubisch, Moneef Shoukier

Genes (Basel)· January 2022

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Generalized Arterial Calcification of Infancy Type 1 (GACI1): Identification of a Novel Pathogenic Variant (c.1715T>C (p.Leu572Ser)).
Gaetano Pietro Bulfamante, Laura Carpenito, Emma Bragantini, Silvia Graziani, Maria Bellizzi, Moneef Shoukier

Diagnostics (Basel)· June 2021

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Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerization.
Yingzhou Edward Pan, Debora Tibbe, Frederike Leonie Harms, Carsten Reißner, Kerstin Becker, Moneef Shoukier

J Neurochem· May 2021

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The transcription factor Bcl11b promotes both canonical and adaptive NK cell differentiation.
Tim D Holmes, Ram Vinay Pandey, Eric Y Helm, Heinrich Schlums, Hongya Han, Moneef Shoukier

Sci Immunol· March 2021

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BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.
Davor Lessel, Christina Gehbauer, Nuria C Bramswig, Caroline Schluth-Bolard, Sathish Venkataramanappa, Moneef Shoukier

Brain· August 2018

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Germline deletion of CIN85 in humans with X chromosome-linked antibody deficiency.
Baerbel Keller, Moneef Shoukier, Kathrin Schulz, Arshiya Bhatt, Ines Heine

J Exp Med· May 2018

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A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.
Marcello Scala, Andrea Accogli, Elisa De Grandis, Anna Allegri, Christoph P Bagowski, Moneef Shoukier

Am J Med Genet A· March 2018

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Uniparental Trisomy of a Mutated HRAS Proto-Oncogene in Embryonal Rhabdomyosarcoma of a Patient With Costello Syndrome.
Jan Menke, Silke Pauli, Matthias Sigler, Ingrid Kühnle, Moneef Shoukier

J Clin Oncol· May 2015

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Microduplication of 3p26.3 in nonsyndromic intellectual disability indicates an important role of CHL1 for normal cognitive function.
Moneef Shoukier, Sigrid Fuchs, Eva Schwaibold, Michael Lingen, Jutta Gärtner

Neuropediatrics· October 2013

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A 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: further characterization and review.
Eva Maria Christina Schwaibold, Barbara Zoll, Peter Burfeind, Elke Hobbiebrunken, Bernd Wilken, Moneef Shoukier

Am J Med Genet A· October 2013

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Normal intelligence and premature ovarian failure in an adult female with a 7.6 Mb de novo terminal deletion of chromosome 9p.
Iris Bartels, Irene Pütz, Nadine Reintjes, Christian Netzer, Moneef Shoukier

Eur J Med Genet· August 2013

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Hereditary papillary renal cell carcinoma primarily diagnosed in a cervical lymph node: a case report of a 30-year-old woman with multiple metastases.
Carl Ludwig Behnes, Christina Schlegel, Moneef Shoukier, Isabella Magiera, Frank Henschke

BMC Urol· January 2013

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Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes.
Silke Pauli, Thomas Schmidt, Rudolf Funke, Barbara Zoll, Peter Burfeind, Moneef Shoukier

Eur J Med Genet· November 2012

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Multifocal capillary malformations due to RASA1 mutation misdiagnosed as cutaneous mastocytosis.
Timo Buhl, Moneef Shoukier, Pawel Grzmil, Nicole Revencu, Michael P Schön

Arch Dermatol· November 2012

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Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D.
Silke Pauli, Doris Steinemann, Kai Dittmann, Jürgen Wienands, Moneef Shoukier

Am J Med Genet A· March 2012

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Mutation in the CPC motif-containing 6th transmembrane domain affects intracellular localization, trafficking and copper transport efficiency of ATP7A protein in mosaic mutant mice--an animal model of Menkes disease.
Małgorzata Lenartowicz, Paweł Grzmil, Moneef Shoukier, Rafał Starzyński, Marcin Marciniak

Metallomics· February 2012

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A de novo interstitial deletion of 2p23.3-24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathy.
Moneef Shoukier, Julia Schröder, Barbara Zoll, Peter Burfeind, Clemens Freiberg

Am J Med Genet A· February 2012

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A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect.
Moneef Shoukier, Julia Wickert, Julia Schröder, Iris Bartels, Bernd Auber

Am J Med Genet A· January 2012

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Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion.
Georg M Stettner, Moneef Shoukier, Christoph Höger, Knut Brockmann, Bernd Auber

Am J Med Genet A· August 2011

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