J. Gecz

发表

Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor

M. Mangelsdorf, S. Stifani, V. Broccoli, 2007, Neuroscience.

BDNF and DYRK1A Are Variable and Inversely Correlated in Lymphoblastoid Cell Lines from Down Syndrome Patients

B. V. van Bon, A. Hoischen, B. D. de Vries, 2012, Molecular Neurobiology.

XNP mutation in a large family with Juberg-Marsidi syndrome

A. Munnich, S. Lyonnet, L. Villard, 1996, Nature Genetics.

X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia

F. Wong, C. Shoubridge, G. McGillivray, 2017, Child neurology open.

Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX

A. Dahl, P. Strømme, S. Bakke, 2003, Journal of neurology, neurosurgery, and psychiatry.

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

M. Stratton, P. Futreal, S. Edkins, 2007, Journal of Medical Genetics.

The clinical picture of the Börjeson–Forssman–Lehmann syndrome in males and heterozygous females with PHF6 mutations

J. Gécz, B. D. de Vries, J. Clayton-Smith, 2004, Clinical genetics.

Mutation screening in Börjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient

J. Gécz, R. Hennekam, A. Mégarbané, 2005, Journal of Medical Genetics.

UvA-DARE ( Digital Academic Repository ) Mutation screening in Borjeson-Forssman-Lehmann syndrome : identification of a novel de novo PHF 6 mutation in a female patient

R. Hennekam, A. Mégarbané, G. Turner, 2006 .

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

J. Gécz, J. Fryns, T. Kleefstra, 2010, Molecular Psychiatry.

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.

J. Fryns, H. van Bokhoven, V. Kalscheuer, 2002, Human molecular genetics.

Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing

A. Minoche, M. Corbett, A. Gardner, 2021, npj Genomic Medicine.

Evolution of the human X – a smart and sexy chromosome that controls speciation and development

H. Hameister, J. Gécz, J. Graves, 2003, Cytogenetic and Genome Research.

Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome

J. Gécz, A. Baumstark, I. Andriuškevičiūtė, 2003, Journal of medical genetics.

gene MED12 missense mutation (p.N1007S) in the The original Lujan syndrome family has a novel

M. Stratton, S. Edkins, J. Teague, 2008 .

PCR amplification of large VNTR alleles of D17S5 (YNZ22) locus.

J. Gecz, 1991, Nucleic acids research.

Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Oral Presentations

K., Lin, H., 2020, European Journal of Human Genetics.

Screening and cell‐based assessment of mutations in the Aristaless‐related homeobox (ARX) gene

J. Gécz, G. Baynam, C. Shoubridge, 2011, Clinical genetics.

Partial Androgen Insensitivity Syndrome and t(X;5): Are There Upstream Regulatory Elements of the Androgen Receptor Gene?

G. Sutherland, L. Villard, E. Woollatt, 2004, Hormone Research in Paediatrics.

Borjeson-Forssman-Lehmann Syndrome and Multiple Pituitary Hormone Deficiency

A. Lampe, M. Wright, J. Gecz, 2003, Journal of pediatric endocrinology & metabolism : JPEM.

Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for X-linked mental retardation: mutation screening in Börjeson-Forssman-Lehmann syndrome and MRX27.

J. Gecz, K. Lower, 2001, American journal of medical genetics.

Fine mapping and cloning of the breakpoint associated with Menkes syndrome in a female patient.

J. Gécz, B. Pasini, G. Romeo, 1992, Genomics.

BDNF and DYRK1A Are Variable and Inversely Correlated in Lymphoblastoid Cell Lines from Down Syndrome Patients

A. Hoischen, S. Antonarakis, B. Menten, 2012, Molecular Neurobiology.

Functional characterization of GATA 3 mutations causing the hypoparathyroidism-deafness-renal ( HDR ) dysplasia syndrome : insight into mechanisms of DNA binding by the GATA 3 transcription factor

N. Freimer, T. Hudson, E. Silverman, 2007 .