• A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I
• A case of 45,X/47,XXX mosaic Turner syndrome with limb length discrepancy
• A girl with Down syndrome and partial trisomy for 21pter-q22.13: a clue to narrow the Down syndrome critical region
• A new syndrome of dwarfism, brachydactyly, nail dysplasia, and mental retardation in sibs
• A Noonan-like pediatric patient with a de novo CBL pathogenic variant and an RNF213 polymorphism p.R4810K presenting with cardiopulmonary arrest due to left main coronary artery ostial atresia
• A Novel Deletion Mutation of SLC16A2 Encoding Monocarboxylate Transporter (MCT) 8 in a 26-year-old Japanese Patient with Allan-Herndon-Dudley Syndrome
• Achondroplasia, hypochondroplasia
• Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25
• Camptomelic dysplasia
• Cause of sudden, unexpected death of Prader-Willi syndrome patients with or without growth hormone treatment
• Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations
• Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)
• Cryptomicrotia and short, stubby fingers with excess fingertip arch patterns in a mother and son
• Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome
• Genetic and prenatal findings in two Japanese patients with Schinzel-Giedion syndrome
• Gorlin syndrome, basal cell nervus syndrome
• How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
• Hypomethylation of a centromeric block of ICR1 is sufficient to cause Silver-Russell syndrome
• Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients
• Kabuki make-up syndrome (Niikawa-Kuroki syndrome) with cleft lip and palate
• Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan
• McDonough syndrome
• Meckel syndrome
• Megacystis-megaduodenum syndrome
• Megalocornea-mental retardation syndrome
• Meier-Gorlin syndrome (ear-patella-short stature syndrome)
• Meningocele-conotruncal heart defect, Korsakoff's type
• Miller-Dieker Syndrome with unbalanced translocation 45, X, psu dic(17;Y)(p13;p11.32) detected by fluorescence in situ hybridization and G-banding analysis using high resolution banding technique
• MLL2 and KDM6A mutations in patients with Kabuki syndrome
• Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome
• Molecular study of the Prader-Willi syndrome: deletion, RFLP, and phenotype analyses of 50 patients
• Mosaic paternally derived inv dup(15) may partially rescue the Prader-Willi syndrome phenotype with uniparental disomy
• Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis
• Mutchinick syndrome in a Japanese girl
• New p57KIP2 mutations in Beckwith-Wiedemann syndrome
• No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients
• No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients
• Non-chromosome 15 marker chromosome in a Prader-Willi syndrome patient with uniparental disomy
• Patient with del(12)(q12q13.12) manifesting abnormalities compatible with Noonan syndrome
• Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruption
• Proteus syndrome
• Prune-belly syndrome
• Pterygia-dysmorphic facies-short stature-mental retardation
• Refractory sacrococcygeal germ cell tumor in Schinzel-Giedion syndrome
• Regional mapping of the parathyroid hormone gene (PTH) by cytogenetic and molecular studies
• Short stature, brachydactyly, nail dysplasia, and mental retardation: further observation of the Tonoki syndrome
• Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
• Standard growth curves for Japanese patients with Prader-Willi syndrome
• Thanatophoric dysplasia
• The Wiedemann-Beckwith syndrome: pedigree studies on five families with evidence for autosomal dominant inheritance with variable expressivity
• Tonoki syndrome
• Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3)