E. Smeets

发表

A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1

E. Blom, S. Stevens, Ingrid T J Siegelaer, 2014, European Journal of Human Genetics.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.

MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions

C. V. van Ravenswaaij-Arts, E. Smeets, S. Stevens, 2011, American journal of medical genetics. Part A.

Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations

T. de Ravel, K. Devriendt, R. Sciot, 2009, Genes, chromosomes & cancer.

Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co‐segregates with tuberous sclerosis complex in mildly affected kindreds

M. Wentink, A. V. D. van den Ouweland, M. Nellist, 2012, Clinical genetics.

Cohen syndrome and de novo reciprocal translocation t(5;7)(q33.1;p15.1).

J. Fryns, H. van den Berghe, E. Smeets, 1990, American journal of medical genetics.

Updating the profile of C-terminal MECP2 deletions in Rett syndrome

J. Christodoulou, H. Leonard, D. Ravine, 2009, Journal of Medical Genetics.

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes

H. Smeets, A. Paulussen, A. Haeringen, 2010, European Journal of Human Genetics.

Terminal 2q37 deletion and autistic behaviour.

J. Vermeesch, J. Fryns, E. Smeets, 2005, Genetic counseling.

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability

R. Pfundt, M. Reijnders, B. Franke, 2017, Nature Communications.

"Cataplexy" in Coffin-Lowry syndrome.

J. Fryns, E. Smeets, 1998, Journal of medical genetics.

Strong variable clinical presentation in 3 patients with 7q terminal deletion.

J. Fryns, E. Smeets, H. Devlieger, 1998, Genetic counseling.

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

Sahar Mansour, Dierk Niessing, James J Dowling, 2017, Journal of Medical Genetics.

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

L. Vissers, R. Pfundt, R. Pettinato, 2019, European Journal of Human Genetics.

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

H. Smeets, T. de Ravel, K. Devriendt, 2011, Human mutation.

Gross rearrangements in the MECP2 gene in three patients with rett syndrome: Implications for routine diagnosis of Rett syndrome

J. Fryns, G. Matthijs, E. Smeets, 2003, Human mutation.

Melkersson‐Rosenthal syndrome and de novo autosomal t(9;21)(p11;p11) translocation

J. Fryns, H. Berghe, E. Smeets, 1994, Clinical genetics.

Partial monosomy 8p/trisomy 8q in a newborn infant due to a maternal three‐way translocation: Clinical and cytogenetic comparison with San Luis Valley syndrome

S. Stevens, E. Smeets, J. Engelen, 2010, American journal of medical genetics. Part A.

MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients

K. Devriendt, G. Buggenhout, U. Moog, 2006, Brain and Development.

Acrocentric/18p translocation in two mentally retarded males. Delineation of the adult phenotype.

J. Fryns, H. van den Berghe, E. Smeets, 1986, Annales de genetique.

Regional Proteus syndrome and somatic mosaicism.

J. Fryns, E. Smeets, M. Cohen, 1994, American journal of medical genetics.

Small terminal 10q26 deletion in a male patient with Noonan-like stigmata: diagnosis by cytogenetic and FISH analysis.

J. Vermeesch, J. Fryns, E. Smeets, 2002, Genetic Counseling.

De novo 7q36 deletion: breakpoint analysis and types of holoprosencephaly.

J. Fryns, E. Smeets, E. Schoenmakers, 1998, American journal of medical genetics.

A new centromeric heteromorphism in the short arm of chromosome 20.

J. Fryns, H. van den Berghe, E. Smeets, 1988, Journal of medical genetics.

Transmission of ring chromosome 18 46,XX/46,XX,r(18) mosaicism in a mother and ring chromosome 18 syndrome in her son.

H. van den Berghe, E. Smeets, J. Fryns, 1992, Annales de genetique.

Profound mental retardation, characteristic facies with midfacial hypoplasia and premature frontotemporal balding, muscular hypotrophy, and small patellae in two unrelated male patients.

J. Fryns, H. van den Berghe, E. Smeets, 1993, Journal of medical genetics.

On the nosology of the “primary true microcephaly, chorioretinal dysplasia, lymphoedema” association

J. Fryns, H. Berghe, E. Smeets, 1995, Clinical genetics.

Wolf-Hirschhorn syndrome with cryptic 4p16.3 deletion and balanced/unbalanced mosaicism in the mother.

K. Devriendt, J. Fryns, E. Smeets, 1998, Annales de genetique.

Identical cryptic partial monosomy 20pter and trisomy 20qter in three adult siblings due to a large maternal pericentric inversion: Detection by MLPA and breakpoint mapping by SNP array analysis

E. Blom, J. Herbergs, S. Stevens, 2009, American journal of medical genetics. Part A.

The 49,XXXXY syndrome. Clinical and psychological follow‐up data

J. Fryns, H. Berghe, E. Smeets, 1988, Clinical genetics.

Partial distal trisomy 3p. A partial autosomal trisomy without major dysmorphic features.

J. Fryns, E. Smeets, L. Vandenbossche, 2001, Genetic counseling.

Angiographic evidence of low portal liver perfusion in transient neonatal hypermmonaemia.

E. Vandenbussche, G. Marchal, E. Smeets, 1980, Acta paediatrica Belgica.

Proximal trisomy 13q and distal monosomy 8p in a dysmorphic and mentally retarded patient with an isodicentric chromosome 13q and a 13q/8p translocation chromosome.

E. Smeets, T. Lukusa, L. van den Berghe, 1999, Annales de genetique.

The Floating-Harbor syndrome: report of another patient and differential diagnosis with Shprintzen syndrome.

J. Fryns, H. van den Berghe, E. Smeets, 1996, Genetic counseling.