Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2^†

• Pages: 129-137
• First Published: 22 January 2009

Cortisol levels in Prader–Willi syndrome support changes in routine care^†

• Pages: 138-139
• First Published: 09 January 2009

Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade^†‡

• Pages: 140-146
• First Published: 09 January 2009

15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q^†

• Pages: 147-154
• First Published: 09 January 2009

Genetic polymorphisms in the thioredoxin 2 (TXN2) gene and risk for spina bifida^†

• Pages: 155-160
• First Published: 22 January 2009

Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype–phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy^†

• Pages: 161-170
• First Published: 22 January 2009

Audiological and vestibular findings in the Kabuki syndrome^†

• Pages: 171-176
• First Published: 22 January 2009

Cervical vertebrae, cranial base, and mandibular retrognathia in human triploid fetuses^†

• Pages: 177-187
• First Published: 22 January 2009

Assessing the understanding of biobank participants^†‡

• Pages: 188-198
• First Published: 22 January 2009

Rett syndrome and long-term disorder profile^†

• Pages: 199-205
• First Published: 09 January 2009

Somatic TP53 mutation mosaicism in a patient with Li–Fraumeni syndrome^†

• Pages: 206-211
• First Published: 14 November 2008

Somatic mosaicism in a patient with Lynch syndrome^†

• Pages: 212-215
• First Published: 09 January 2009

Autosomal dominant inheritance of cardiac valves anomalies in two families: Extended spectrum of left-ventricular outflow tract obstruction^†

• Pages: 216-225
• First Published: 22 January 2009

Molecular cytogenetic characterization of a 4p15.1-pter duplication and a 4q35.1-qter deletion in a recombinant of chromosome 4 pericentric inversion^†

• Pages: 226-231
• First Published: 22 January 2009

A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome^†‡

• Pages: 232-236
• First Published: 22 January 2009

Familial 14.5 Mb interstitial deletion 13q21.1–13q21.33: Clinical and array-CGH study of a benign phenotype in a three-generation family^†

• Pages: 237-241
• First Published: 22 January 2009

Interstitial deletion 2p11.2–p12: Report of a patient with mental retardation and review of the literature^†

• Pages: 242-245
• First Published: 22 January 2009

Further clinical delineation of the Börjeson–Forssman–Lehmann syndrome in patients with PHF6 mutations^†

• Pages: 246-250
• First Published: 22 January 2009

Anterior segment anomalies of the eye, growth retardation associated with hypoplastic pituitary gland and endocrine abnormalities: Jung syndrome or a new syndrome?^†

• Pages: 251-256
• First Published: 22 January 2009

Identification of sex chromosome mosaicism: Is analysis of 20 metaphase cells sufficient?^†

• Pages: 257-259
• First Published: 22 January 2009

Muenke syndrome with osteochondroma^†

• Pages: 260-261
• First Published: 18 December 2008

Molecular cytogenetic characterization of two small supernumerary marker chromosomes derived from chromosome 19^†

• Pages: 262-265
• First Published: 09 January 2009

Paradoxical association of extensive nevus flammeus together with unilateral lower limb and breast hypoplasia^†

• Pages: 266-267
• First Published: 09 January 2009

Mesiodens, a new microform of holoprosencephaly?^†

• Pages: 268-271
• First Published: 22 January 2009

Further delineation of the critical region for the 9p-duplication syndrome^†

• Pages: 272-276
• First Published: 22 January 2009

Hypogammaglobulinemia and Silver–Russell phenotype associated with partial trisomy 7q and partial monosomy 21q^†

• Pages: 277-279
• First Published: 22 January 2009

Mutation in the COCH gene is associated with superior semicircular canal dehiscence^†‡

• Pages: 280-285
• First Published: 22 January 2009

Mutation analysis of the myocyte enhancer factor 2A gene (MEF2A) in patients with left ventricular hypertrophy/hypertrophic cardiomyopathy^†

• Pages: 286-289
• First Published: 22 January 2009

A partial trisomy 1q patient with a deletion 1q22 and an insertion 1(q42q44) into 1q22^†

• Pages: 290-293
• First Published: 22 January 2009

CLOVE(S) syndrome: Expanding the acronym^†

• Page: 294
• First Published: 22 January 2009

Response to “CLOVE(S) Syndrome: Expanding the Acronym”^†

• Page: 295
• First Published: 09 January 2009

• Page: 296
• First Published: 22 January 2009