S. Frints

发表

Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia

Koenraad Devriendt, Peter Vandenberghe, Jean-Pierre Fryns, 2001, Nature Genetics.

Detection of genomic copy number changes in patients with idiopathic mental retardation by high‐resolution X‐array‐CGH: important role for increased gene dosage of XLMR genes

P. Marynen, K. Devriendt, J. Vermeesch, 2007, Human mutation.

Evidence for increased SOX3 dosage as a risk factor for X‐linked hypopituitarism and neural tube defects

P. Marynen, H. Van Esch, J. Fryns, 2014, American journal of medical genetics. Part A.

Cell-Free RNA Is a Reliable Fetoplacental Marker in Noninvasive Fetal Sex Determination.

J. Veltman, A. Paulussen, B. Faas, 2015, Clinical chemistry.

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

J. Gécz, N. Drouot, P. Striano, 2022, Nature Communications.

A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients

P. Marynen, J. Fryns, M. Raynaud, 2003, Journal of medical genetics.

MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression

J. Gécz, P. Marynen, S. Lenzner, 2008, European Journal of Human Genetics.

Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome.

P. Marynen, J. Fryns, E. Legius, 2002, American journal of medical genetics.

LPS-induced chorioamnionitis and antenatal corticosteroids modulate Shh signaling in the ovine fetal lung.

M. Kemp, A. Jobe, B. Kramer, 2012, American journal of physiology. Lung cellular and molecular physiology.

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

I. Scheffer, M. Shaw, J. Gécz, 2002, Nature Genetics.

Systematic analysis and prediction of genes associated with disorders on chromosome X

J. Gécz, N. Drouot, P. Striano, 2022, medRxiv.

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus

Katherine L Hill-Harfe, C. Angelini, G. Ferrero, 2019, Genetics in Medicine.

A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation

A. Meindl, H. Ropers, R. Sudbrak, 2000, Nature Genetics.

Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Arthur S. Lee, Hiromi Hirata, D. Baralle, 2019, Human mutation.

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

K. Friend, M. Shaw, E. Haan, 2019, Molecular Psychiatry.

In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells

C. Romano, S. Miyano, E. Wanker, 2014, Molecular Psychiatry.

NXF5, a novel member of the nuclear RNA export factor family, is lost in a male patient with a syndromic form of mental retardation

P. Marynen, E. Izaurralde, C. Dotti, 2001, Current Biology.

CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior.

R. D'Hooge, P. Marynen, J. Steyaert, 2003, Human molecular genetics.

Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: Clinical study and mutation analysis of the NXF5 Gene

P. Marynen, K. Devriendt, H. Ropers, 2003, American journal of medical genetics. Part A.

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus

Katherine L Hill-Harfe, C. Angelini, G. Ferrero, 2019, Genetics in Medicine.

Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH

B. D. de Vries, J. Veltman, H. Bokhoven, 2005, Journal of Medical Genetics.

A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

Lin Jun, Peter Marynen, Mark T. Ross, 1999, Nature Genetics.

Common pathological mutations in PQBP1 induce nonsense‐mediated mRNA decay and enhance exclusion of the mutant exon

C. Romano, H. Ropers, F. Martínez, 2010, Human mutation.

Clinical study and haplotype analysis in two brothers with Partington syndrome.

P. Marynen, J. Fryns, G. Froyen, 2002, American journal of medical genetics.

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

K. Friend, M. Shaw, E. Haan, 2015, Molecular Psychiatry.

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.

B. V. van Bon, M. Fichera, B. D. de Vries, 2009, European journal of medical genetics.

LPS-induced chorioamnionitis and antenatal corticosteroids modulate Shh signaling in the ovine fetal lung.

M. Kemp, J. Pillow, J. Newnham, 2012, American journal of physiology. Lung cellular and molecular physiology.

X‐linked mental retardation: vanishing boundaries between non‐specific (MRX) and syndromic (MRXS) forms

P. Marynen, S. Frints, J. Fryns, 2002, Clinical genetics.