• "C" trigonocephaly syndrome with diaphragmnatic hernia
• A de novo unbalanced translocation leading to partial monosomy 9p23-pter and partial trisomy 15q25.3-qter associated with 46,XY complete gonadal dysgenesis, tall stature and mental retardation
• A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis
• A second case of Devriendt syndrome
• A specific syndrome due to deletion of the distal long arm of chromosome 1
• Aberrant phase separation and nucleolar dysfunction in rare genetic diseases
• Abnormalities-retardation syndrome caused by incomplete triploidy
• Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype
• Agnathia, holoprosencephaly, and situs inversus: a third report
• An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation
• Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities
• Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities
• Bilateral porencephaly, cerebellar hypoplasia, and internal malformations: two siblings representing a probably new autosomal recessive entity
• Brachmann-de Lange syndrome in 16 of our patients
• Brief historical note on the Brachmann-de Lange syndrome: a patient closely resembling the case described by Brachmann in 1916
• Burning down DEFECT11
• Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype
• Cerebro-costo-mandibular syndrome: a follow-up study with 6 patients
• CHILD syndrome. Case report of a rare genetic dermatosis
• Clinical and mutational spectrum of Mowat-Wilson syndrome
• Coffin-Lowry syndrome: clinical aspects at different ages and symptoms in female carriers
• Cognitive deficits associated with human immunodeficiency virus encephalopathy
• Confirmation of a particular but nonspecific metacarpophalangeal pattern profile in patients with the Smith-Magenis syndrome due to interstitial deletion of 17p
• Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome
• Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry
• Defective clavicles in Kabuki syndrome
• Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation
• Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome
• Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11
• Desbuquois syndrome: three further cases and review of the literature
• Disruption of the PDGFB gene in a 1;22 translocation patient does not cause Costello syndrome
• Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B
• Dysmorphology at a distance: results of a web-based diagnostic service
• Encephalocele-radial, cardiac, gastrointestinal, anal/renal anomalies: novel evidence for a new condition?
• Encephalocele, radial defects, cardiac, gastrointestinal, anal, and renal anomalies: a new multiple congenital anomaly (MCA) syndrome?
• Encephalopathy of infancy with intracerebral calcification and chronic spinal fluid lymphocytosis--another case of the Aicardi-Goutieres syndrome
• Encephalopathy with intracerebral calcification, white matter lesions, growth hormone deficiency, microcephaly, and retinal degeneration: two sibs confirming a probably distinct entity
• Epithelial Migration and Non-adhesive Periderm Are Required for Digit Separation during Mammalian Development
• Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father
• Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome
• Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations
• FG syndrome in 2 half brothers
• Floating-Harbor syndrome in two unrelated girls: mild short stature in one patient and effective growth hormone therapy in the other
• Fraser (Cryptophthalmos-syndactyly) syndrome: a case with bilateral anophthalmia but presence of normal eyelids
• Fraser syndrome (cryptophthalmos with syndactyly) in the fetus and newborn
• From genetics to biology: advancing mental health research in the Genomics ERA
• Frontonasal dysplasia, congenital heart defect, and short stature: a further observation
• Fryns syndrome: two further cases without lateral diaphragmatic defects
• Further delineation of the branchio-oculo-facial syndrome
• Further delineation of the ichthyosis follicularis, atrichia, and photophobia syndrome
• Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8
• Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III
• Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap
• Hyperphosphatasia with mental retardation, brachytelephalangy, and a distinct facial gestalt: Delineation of a recognizable syndrome
• Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome
• Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum
• Hypertelorism-hypospadias (BBB) syndrome. 2 additional family studies
• Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
• Intrauterine growth retardation, mild frontonasal dysplasia, phocomelic upper limbs with absent thumbs and a variety of internal malformations including choanal atresia, congenital heart defects, polysplenia, absent gall bladder as well as genitourinary a
• Isochromosome Xq in Klinefelter syndrome: report of 7 new cases
• Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases
• Knee pterygium syndrome in a newborn infant
• Limb anomalies in the CHARGE association
• MICOS and the mitochondrial inner membrane morphology - when things get out of shape
• Microphthalmia with linear skin defects syndrome (MLS): a male with a mosaic paracentric inversion of Xp
• Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations
• Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome
• Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
• Molecular study of 33 families with Fraser syndrome new data and mutation review
• Multiple malformation syndrome including cleft lip and palate and cardiac abnormalities due to an interstitial deletion of chromosome 12q
• Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome
• Mutation of KCNJ8 in a patient with Cantu syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition
• Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome
• Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I
• Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes
• Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation
• Mutations in the pericentrin (PCNT) gene cause primordial dwarfism
• Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome
• No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome
• Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification
• Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies
• Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome
• Postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation: a new syndrome?
• Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects
• Risk reduction in sexual behavior: a condom giveaway program in a drug abuse treatment clinic
• Robin sequence and oligodactyly in mother and son--probably a further example of the postaxial acrofacial dysostosis syndrome
• Setleis (bitemporal 'forceps marks') syndrome in a German family: evidence for autosomal dominant inheritance
• Short stature, microcephaly, characteristic face, syndactyly and mental retardation: the Filippi syndrome. Report on a second family
• Single-channel properties of skeletal muscle ryanodine receptor pore Δ⁴⁹²³FF⁴⁹²⁴ in two brothers with a lethal form of fetal akinesia
• Smith-Lemli-Opitz syndrome
• SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome
• Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome
• Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis
• Syndromal hypothalamic hamartoblastoma with holoprosencephaly sequence, microphthalmia, pulmonary malformations, radial hypoplasia and mullerian regression: further delineation of a new syndrome?
• The cerebro-costo-mandibular syndrome: seven patients and review of the literature
• The channel-forming Sym1 protein is transported by the TIM23 complex in a presequence-independent manner
• The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients
• The Peters'-Plus syndrome: description of 16 patients and review of the literature
• Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS)
• Wiedemann-Steiner syndrome: three further cases