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15 in total

1. Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome.

Authors: A Levy; S Demczuk; A Aurias; D Depétris; M G Mattei; N Philip
Journal: Hum Mol Genet Date: 1995-12 Impact factor: 6.150

2. DiGeorge syndrome and 22q11 rearrangements.

Authors: S Augusseau; S Jouk; P Jalbert; M Prieur
Journal: Hum Genet Date: 1986-10 Impact factor: 4.132

3. A catalogue of splice junction sequences.

Authors: S M Mount
Journal: Nucleic Acids Res Date: 1982-01-22 Impact factor: 16.971

4. Cytogenetic findings in a prospective series of patients with DiGeorge anomaly.

Authors: F Greenberg; F F Elder; P Haffner; H Northrup; D H Ledbetter
Journal: Am J Hum Genet Date: 1988-11 Impact factor: 11.025

5. Alternative splicing of calretinin mRNA leads to different forms of calretinin.

Authors: B Schwaller; M R Celio; W Hunziker
Journal: Eur J Biochem Date: 1995-06-01

6. Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome.

Authors: R Wadey; S Daw; C Taylor; U Atif; S Kamath; S Halford; H O'Donnell; D Wilson; J Goodship; J Burn
Journal: Hum Mol Genet Date: 1995-06 Impact factor: 6.150

7. Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene.

Authors: M L Budarf; J Collins; W Gong; B Roe; Z Wang; L C Bailey; B Sellinger; D Michaud; D A Driscoll; B S Emanuel
Journal: Nat Genet Date: 1995-07 Impact factor: 38.330

8. Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease.

Authors: S Halford; R Wadey; C Roberts; S C Daw; J A Whiting; H O'Donnell; I Dunham; D Bentley; E Lindsay; A Baldini
Journal: Hum Mol Genet Date: 1993-12 Impact factor: 6.150

9. Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity.

Authors: S Demczuk; R Aledo; J Zucman; O Delattre; C Desmaze; L Dauphinot; P Jalbert; G A Rouleau; G Thomas; A Aurias
Journal: Hum Mol Genet Date: 1995-04 Impact factor: 6.150

Review 10. DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. A review.

Authors: S Demczuk; A Aurias
Journal: Ann Genet Date: 1995

1 in total

1. Separation-of-function mutation in HPC2, a member of the HIR complex in S. cerevisiae, results in derepression of the histone genes but does not confer cryptic TATA phenotypes.

Authors: Nidhi Vishnoi; Kacie Flaherty; Leandria C Hancock; Monica E Ferreira; Amit Dipak Amin; Philippe Prochasson
Journal: Biochim Biophys Acta Date: 2011-07-19

1 in total