Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

Emilia K. Bijlsma, A.C.J. Gijsbers, Janneke Schuurs-Hoeijmakers, +22

European Journal of Medical Genetics

Normal IndividualsPsychiatrySyndromic AutismGenetic DisorderGenetics +9

Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)

Nicole Maas, Griet Van Buggenhout, Femke Hannes, +11

Journal of Medical Genetics

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances

M. Doornbos, Birgit Sikkema‐Raddatz, Claudia A.L. Ruijvenkamp, +12

European Journal of Medical Genetics

Breakpoints 1PsychopathologyPsychiatryNine PatientsMicrodeletion 15Q11.2 +1

Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience

Jham Tuerlings, HF de France, A.J.H. Hamers, +9

European Journal of Human Genetics

Chromosome StudiesInfertilityAndrologyFertilityGenetics +12

Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy

Stephan Rust, Michael Walter, Harald Funke, +11

Nature Genetics

Linkage DisequilibriumCytogeneticsGenetic DisorderGeneticsGenetic Epidemiology +7

Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics

Nicolien Hanemaaijer, Birgit Sikkema‐Raddatz, Gerben van der Vries, +11

European Journal of Human Genetics

Routine DiagnosticsEngineeringMedical ImagingMeasurementCalibration +7

A specific mutation in <i>TBL1XR1</i> causes Pierpont syndrome

Charlotte A. Heinen, Aldo Jongejan, Peter J. Watson, +14

Journal of Medical Genetics

Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome

Cornelis J. Boogerd, Dennis Dooijes, Aho Ilgun, +8

Cardiovascular Research

Three cases of mosaicism for balanced reciprocal translocations

Beike Leegte, Birgit Sikkema‐Raddatz, Roel Hordijk, +4

American Journal of Medical Genetics

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy

Arjan Pm de Brouwer, Sander B. Nabuurs, Ingrid E.C. Verhaart, +16

European Journal of Human Genetics

Rare DiseasesMendelian DisorderGenetic DisorderGeneticsDegenerative Disease +5