• 2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis
• 2q37 deletion syndrome in a Colombian patient with macrocephaly: a case report
• 2q37.3 Deletion Syndrome: Two Cases with Highly Distinctive Facial Phenotype, Discordant Association with Schizophrenic Psychosis, and Shared Deletion Breakpoint Region on 2q37.3
• 46,XX,der(2)t(2;10)(2pter-->2q37::10p13-->10pter)[127]/45,X,der(2)t(2;10) (2pter-->2q37::10p13-->10pter)[23]. Karyotype-phenotype correlation and genetic counselling in complex karyotypes
• A case of 2q37 deletion syndrome related ophthalmo facial malformation
• A de novo 2q37.2 deletion encompassing AGAP1 and SH3BP4 in a patient with autism and intellectual disability
• A family with brachydactyly mental retardation syndrome with a missense variant in <em>HDAC4</em>
• A novel 2q37 microdeletion containing human neural progenitors genes including STK25 results in severe developmental delay, epilepsy, and microcephaly
• Albright hereditary osteodystrophy and del(2) (q37.3) in four unrelated individuals
• Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion
• Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration
• Association of GNAS imprinting defects and deletions of chromosome 2 in two patients: clues explaining phenotypic heterogeneity in pseudohypoparathyroidism type 1B/iPPSD3
• Brachydactyly type E in two sibs with increased bone density and mental retardation. A new autosomal recessive syndrome?
• Brief psychotic episode in a patient with chromosome 2q37 microdeletion syndrome
• Brief report: peculiar evolution of autistic behaviors in two unrelated children with brachidactyly-mental retardation syndrome
• Bronchiectasis and immune deficiency in an adult patient with deletion 2q37 due to an unbalanced translocation t(2;10)
• Case report of newborn with de novo partial trisomy 2q31.2-37.3 and monosomy 9p24.3
• Chromosome 2q duplications: case report of a de novo interstitial duplication and review of the literature
• Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals
• Chromosome 2q37 deletion: clinical and molecular aspects
• Clinical and genetic analysis of a child with 2q37 deletion syndrome resulting from a translocation involving chromosome satellite
• Clinical manifestation of chromosome 2 long arm terminal deletion--presentation of four cases
• Clinical phenotype associated with terminal 2q37 deletion
• Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: association of extra copy of MSX2 with craniosynostosis
• Cryptic subtelomeric translocation t(2;16)(q37;q24) segregating in a family with unexplained stillbirths and a dysmorphic, slightly retarded child
• Deletion (2)(q37)
• Deletion 2q37 syndrome: Cognitive-behavioral trajectories and autistic features related to breakpoint and deletion size
• Deletion 2q37: an identifiable clinical syndrome with mental retardation and autism
• Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder
• Deletion 2q37.3-&gt;qter and duplication 15q24.3-&gt;qter characterized by array CGH in a girl with epilepsy and dysmorphic features
• Deletion of 2q37 and duplication of 10q24: two cases in the same family and review of the literature
• Deletion of chromosome 2q37 and autism: a distinct subtype?
• Diagnosis of a case of 2q37 deletion syndrome by whole exome sequencing combined with whole genome low-coverage sequencing method
• Effective monosomy or trisomy of chromosome band 2q37.3 due to the unbalanced segregation of a 2;11 translocation
• Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene
• Evolution of multiple cytogenetic clones and leukemic transformation in a case of myelodysplastic syndrome
• Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortions
• Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype
• FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37.3 deletion syndrome
• Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement
• Fine deletion mapping of chromosome 2q21-37 shows three preferentially deleted regions in oral cancer
• Gene for Waardenburg syndrome type I is located at 2q35, not at 2q37.3
• Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3
• Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies
• Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor
• Genotype and phenotype correlation in a family with a 2q37 deletion downstream of HDAC4
• Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations
• Genotype-Phenotype Correlation of Distal 2q37 Deletions
• Genotype-Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review
• Haploinsufficiency of HDAC4 does not cause intellectual disability in all affected individuals
• Heterogeneity of a Constitutional Complex Chromosomal Rearrangement in 2q
• Holoprosencephaly associated with an apparent isolated 2q37.1--&gt;2q37.3 deletion
• Medullary thyroid carcinoma and 2q37 deletion in a patient with nevoid basal cell carcinoma syndrome: clinical description and genetic analysis
• Microdeletion of chromosome sub-band 2q37.3 in two patients with abnormal situs viscerum
• Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome
• Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes
• Molecular characterization of a cryptic 2q37 deletion in a patient with Albright hereditary osteodystrophy-like phenotype
• Molecular characterization of a new patient with a non-recurrent inv dup del 2q and review of the mechanisms for this rearrangement
• Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region
• Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype
• Molecular genetic delineation of 2q37.3 deletion in autism and osteodystrophy: report of a case and of new markers for deletion screening by PCR
• Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26)
• Neuropsychological profiles of patients with 2q37.3 deletion associated with developmental dyspraxia
• Novel 4.18 Mb deletion resulting in 2q37 microdeletion syndrome combined with PTH resistance found in one Chinese patient
• Oesophageal atresia with a terminal deletion of chromosome 2q37.1
• One case of 2q37 deletion syndrome: clinical and genetic diagnosis
• Partial trisomy 2q(2q37.3--&gt;qter) and monosomy 7q(7q34---&gt;qter) due to paternal reciprocal translocation 2;7: a case report
• Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4
• Prenatal diagnosis of microdeletion 16p13.11 combination with partial monosomy of 2q37.1-qter and partial trisomy of 7p15.3-pter in a fetus with bilateral ventriculomegaly, agenesis of corpus callosum, and polydactyly
• Prenatal diagnosis of partial monosomy 2q (2q37.3→qter) and partial trisomy 10q (10q24.31→qter) of paternal origin associated with increased nuchal translucency and abnormal maternal serum screening results
• Prenatal diagnosis of ring chromosome 2 with lissencephaly and 2p25.3 and 2q37.3 microdeletions detected using array comparative genomic hybridization
• Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2
• Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues
• RDCI, the vasoactive intestinal peptide receptor: a candidate gene for the features of Albright hereditary osteodystrophy associated with deletion of 2q37
• Reorganization of <em>inter-</em>chromosomal interactions in the 2q37-deletion syndrome
• Severe low growth and 2q37 syndrome
• Siblings with opposite chromosome constitutions, dup(2q)/del(7q) and del(2q)/dup(7q)
• Smallest terminal deletion of the long arm of chromosome 2 in a mildly affected boy
• Splenic Volvulus and 2q37 Deletion Syndrome
• STK25 is a candidate gene for pseudopseudohypoparathyroidism
• Terminal 2q37 deletion and autistic behaviour
• Terminal deletion 2q37.3 in a patient with Klippel-Trenaunay-Weber syndrome
• Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome
• The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients
• The clinical and molecular features of three Turkish patients with a rare genetic disorder: 2q37 deletion syndrome
• The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature
• Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndrome
• Unrelated patients with a rearrangement of chromosome 2 causing duplication of 2p23 and deletion of 2q37
• Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome