Publications by authors named "Boyan Dimitrov"

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The influence of termination of pregnancy for foetal abnormality on subsequent reproductive decision-making.
Ileen Slegers, Kathelijn Keymolen, Chris Winter, Kim Van Berkel, Boyan Dimitrov

J Reprod Infant Psychol· October 2025

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Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian Population.
Aude Beyens, Stefanie Van De Voorde, Marta Guerreiro Santano Ramos Da Silva, Sofie De Meulemeester, Koen Devriendt, Boyan Dimitrov

Clin Genet· May 2025

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Searching for a sense of closure: parental experiences of recontacting after a terminated pregnancy for congenital malformations.
Ileen Slegers, Kathelijn Keymolen, Kim Van Berkel, Boyan Dimitrov, Sonia Van Dooren

Eur J Hum Genet· June 2024

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Prenatal phenotype of a homozygous nonsense MPDZ variant in a fetus with severe congenital hydrocephalus.
Nathalie Vanden Eynde, Eve Van den Mooter, Elise Vantroys, Elke De Schutter, Astrid Leus, Boyan Dimitrov

Prenat Diagn· May 2024

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Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles.
Ilse Parijs, Nathalie Brison, Leen Vancoillie, Machteld Baetens, Bettina Blaumeiser, Boyan Dimitrov

Eur J Hum Genet· January 2024

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Gollop-Wolfgang Complex Is Associated with a Monoallelic Variation in .
Adrian Odrzywolski, Beyhan Tüysüz, Philippe Debeer, Erika Souche, Arnout Voet, Boyan Dimitrov

Genes (Basel)· January 2024

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Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology.
Siddharth Banka, Abigail Bennington, Martin J Baker, Ellen Rijckmans, Giuliana D Clemente, Boyan Dimitrov

Brain· December 2022

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Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts.
Martina Marangoni, Guillaume Smits, Gilles Ceysens, Elena Costa, Robert Coulon, Boyan Dimitrov

Genet Med· February 2022

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Novel Variant in COL4A1 Causes Extensive Prenatal Intracranial Hemorrhage and Porencephaly.
Stefanie Brock, Alex Michotte, Elisa Doné, Astrid Leus, Mieke Cannie, Boyan Dimitrov

J Neuropathol Exp Neurol· September 2021

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Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene.
Melita D Irving, Boyan I Dimitrov, Marja Wessels, Muriel Holder-Espinasse, David Chitayat

Am J Med Genet A· December 2016

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FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.
Nicolas Simonis, Isabelle Migeotte, Nelle Lambert, Camille Perazzolo, Deepthi C de Silva, Boyan Dimitrov

J Med Genet· September 2013

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Fragile X mosaic male full mutation/normal allele detected by PCR/MS-MLPA.
Tihomir Todorov, Albena Todorova, Andrey Kirov, Boyan Dimitrov, Ralph Carvalho

BMJ Case Rep· November 2011

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The C20orf133 gene is disrupted in a patient with Kabuki syndrome.
Nicole M C Maas, Tom Van de Putte, Cindy Melotte, Annick Francis, Constance T R M Schrander-Stumpel, Boyan Dimitrov

BMJ Case Rep· July 2011

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2q31.1 microdeletion syndrome: redefining the associated clinical phenotype.
Boyan Dimitrov, Irina Balikova, Thomy de Ravel, Hilde Van Esch, Maryse De Smedt

J Med Genet· February 2011

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Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani--Lenz-like non-syndromic oligosyndactyly.
Boyan Ivanov Dimitrov, Thierry Voet, Luc De Smet, Joris Robert Vermeesch, Koen Devriendt

J Med Genet· August 2010

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Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter.
Maria Kirchhoff, Anne-Marie Bisgaard, Radka Stoeva, Boyan Dimitrov, Gabriele Gillessen-Kaesbach

Am J Med Genet A· May 2009

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Clinical and molecular-cytogenetic studies of cryptic chromosome aberrations in individuals with idiopathic mental retardation and multiple congenital malformations.
Radka E Stoeva, Liliana I Grozdanova, Joris R Vermeesch, Maria Kirchhoff, Jean-Pierre Fryns, Boyan I Dimitrov

Folia Med (Plovdiv)· March 2009

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Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1.
Renate Zeevaert, François Foulquier, Boyan Dimitrov, Ellen Reynders, Rita Van Damme-Lombaerts

Hum Mol Genet· February 2009

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Genotoxic effects of the pesticides Rubigan, Omite and Rovral in root-meristem cells of Crepis capillaris L.
Polina Gadeva, Boyan Dimitrov

Mutat Res· April 2008

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The C20orf133 gene is disrupted in a patient with Kabuki syndrome.
Nicole M C Maas, Tom Van de Putte, Cindy Melotte, Annick Francis, Constance T R M Schrander-Stumpel, Boyan Dimitrov

J Med Genet· September 2007

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Comparative genotoxicity of the herbicides Roundup, Stomp and Reglone in plant and mammalian test systems.
Boyan D Dimitrov, Polina G Gadeva, Donka K Benova, Maria V Bineva

Mutagenesis· November 2006

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Disruption of ERBB2IP is not associated with dystrophic epidermolysis bullosa in both father and son carrying a balanced 5;13 translocation.
Margarita Stefanova, Katrin Zemke, Boyan Dimitrov, Christina Has, Johannes S Kern

J Invest Dermatol· October 2005

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Clinical and mutational spectrum of Mowat-Wilson syndrome.
Christiane Zweier, Christian T Thiel, Andreas Dufke, Yanick J Crow, Peter Meinecke, Boyan Dimitrov

Eur J Med Genet· September 2005

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Acrofacial dysostosis type Rodríguez.
Boyan Dimitrov, Irina Balikova, Nely Jekova, Lilija Vakrilova, Jean-Pierre Fryns

Am J Med Genet A· May 2005

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