subject area of
- Absence of λ immunoglobulin sequences on the supernumerary chromosome of the “cat eye” syndrome Journal Articles
- Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2 Journal Articles
- Characterization of a lymphoblastoid line deleted for lambda immunoglobulin genes Journal Articles
- Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity Journal Articles
- Contribution of SHANK3 Mutations to Autism Spectrum Disorder Journal Articles
- Contribution of SHANK3 mutations to autism spectrum disorder. Journal Articles
- DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. A review. Journal Articles
- Excess of deletions of maternal origin in the DiGeorge/Velo-cardio-facial syndromes. A study of 22 new patients and review of the literature Journal Articles
- Extraskeletal Ewing's Sarcoma/Primitive Neuroectodermal Tumor of the Posterior Mediastinum with t(11;22)(q24;q12) Journal Articles
- Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion Journal Articles
- Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome Journal Articles
- Is Isolated Palatal Anomaly an Indication to Screen for 22q11 Region Deletion? Journal Articles
- Isolation and Mapping of 45 NotI Linking Clones to Chromosome 22 Journal Articles
- Isolation and characterization of an ?-satellite repeated sequence from human chromosome 22 Journal Articles
- Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome Journal Articles
- Mapping of the human adenylosuccinate lyase (ADSL) gene to chromosome 22q13.1→q13.2 Journal Articles
- Parental origin of the extra chromosome in the cat eye syndrome: Evidence from heteromorphism and in situ hybridization analysis Journal Articles
- Physical Mapping of 30 CA Repeats on Human Chromosome 22 Journal Articles
- Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases. Journal Articles
- Prenatal diagnosis by FISH of a 22q11 deletion in two families. Journal Articles
- Prenatally diagnosed mosaic trisomy 22 in a fetus with left ventricular non‐compaction cardiomyopathy Journal Articles
- Pulmonary Atresia with Intact Ventricular Septum and Major Aortopulmonary Collaterals: Association with Deletion 22q11.2 Journal Articles
- Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities Journal Articles
- Ring chromosome 22 and autism: Report and review Journal Articles
- Structural Organization of the WD repeat protein-encoding gene HIRA in the DiGeorge syndrome critical region of human chromosome 22. Journal Articles
- Trisomy 22 Mosaicism and Normal Developmental Outcome: Report of Two Patients and Review of the Literature Journal Articles
- Unusual dicentric chromosome 22 associated with a 22q13 deletion Journal Articles
- [Search for 22q11 deletion and linkage study in familial cases of non-syndromic conotruncal defects]. Journal Articles
- ‘Putting our heads together’: insights into genomic conservation between human and canine intracranial tumors Journal Articles