E. Lindsay

发表

De novo tandem duplication of chromosome segment 22q11-q12: clinical, cytogenetic, and molecular characterization.

L. Shaffer, A. Baldini, F. Greenberg, 1995, American journal of medical genetics.

Summary Tbx 1 has a dual role in the morphogenesis of the cardiac outflow tract

B. Bruneau, R. Schwartz, A. Baldini, 2004 .

Schizophrenia and chromosomal deletions within 22q11.2.

R. Shprintzen, S. Antonarakis, A. Baldini, 1995, American journal of human genetics.

Congenital heart disease in mice deficient for the DiGeorge syndrome region

A. Bradley, A. Baldini, S. Carattini-Rivera, 1999, Nature.

Microarray analysis detects differentially expressed genes in the pharyngeal region of mice lacking Tbx1.

P. Scambler, C. Roberts, A. Baldini, 2005, Developmental biology.

Mouse Models of 22q11 Deletion Syndrome

R. Paylor, E. Lindsay, 2006, Biological Psychiatry.

Mice deleted for the DiGeorge/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments.

A. Baldini, R. Paylor, L. Yuva-Paylor, 2001, Human molecular genetics.

TBX1 is required for inner ear morphogenesis.

F. Vitelli, A. Baldini, M. Morishima, 2003, Human molecular genetics.

Submicroscopic deletions at 22q11.2: variability of the clinical picture and delineation of a commonly deleted region.

L. Shaffer, P. Scambler, A. Baldini, 1993, American journal of medical genetics.

Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.

R. Shprintzen, P. Scambler, J. Goodship, 1993, American journal of medical genetics.

Congenital heart defects and 22q11 deletions: which genes count?

A. Baldini, E. Lindsay, 1998, Molecular medicine today.

Microarray analysis of the Df1 mouse model of the 22q11 deletion syndrome

P. Scambler, K. Prescott, A. Baldini, 2005, Human Genetics.

Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization.

H. Zoghbi, A. Baldini, M. Grompe, 1994, American journal of medical genetics.

Genetic factors are major determinants of phenotypic variability in a mouse model of the DiGeorge/del22q11 syndromes

M. Morishima, Tu V. Huynh, E. Lindsay, 2001, Proceedings of the National Academy of Sciences of the United States of America.

Tbx1 haploinsufficiency identified by functional scanning of the DiGeorge syndrome region is the cause of aortic arch defects in mice.

P. Scambler, A. Bradley, F. Vitelli, 2001 .

Cloning and comparative mapping of recently evolved human chromosome 22-specific alpha satellite DNA

N. Archidiacono, M. Rocchi, A. Baldini, 1994, Somatic cell and molecular genetics.

Duplication 3q syndrome: molecular delineation of the critical region.

L. Shaffer, E. Zackai, A. Baldini, 1995, American journal of medical genetics.

Localization of acyl coenzyme A:cholesterol acyltransferase gene to human chromosome 1q25

W. Chang, A. Baldini, Catherine C. Y. Chang, 1994, Somatic cell and molecular genetics.

22q11 deletions and cardiac disease

A. Baldini, M. Lewin, E. Lindsay, 1996 .

A genetic link between Tbx1 and fibroblast growth factor signaling.

F. Vitelli, A. Baldini, M. Morishima, 2002, Development.

Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice

P. Scambler, A. Bradley, F. Vitelli, 2001, Nature.

Rapid molecular cytogenetic analysis of X-chromosomal microdeletions: fluorescence in situ hybridization (FISH) for complex glycerol kinase deficiency.

K. Worley, A. Baldini, E. McCabe, 1995, American journal of medical genetics.

Recovery from arterial growth delay reduces penetrance of cardiovascular defects in mice deleted for the DiGeorge syndrome region.

A. Baldini, E. Lindsay, 2001, Human Molecular Genetics.

Chromosomal microdeletions: dissecting del22q11 syndrome

E. Lindsay, 2001, Nature reviews genetics.

Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11.

A. Baldini, S. Halford, E. Lindsay, 1993, Human molecular genetics.

Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: Implications for 22q11 deletion syndrome

M. Owen, P. Scambler, N. Williams, 2006, Proceedings of the National Academy of Sciences of the United States of America.

A transcription map in the CATCH22 critical region: identification, mapping, and ordering of four novel transcripts expressed in heart.

P. Scambler, A. Baldini, P. Rizzu, 1996, Genomics.

Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions.

R. Kucherlapati, R. Shprintzen, B. Morrow, 1995, American journal of medical genetics.

Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization.

P. Scambler, A. Baldini, S. Halford, 1993, Genomics.

Chromosomal assignment of human YAC clones by fluorescence in situ hybridization: use of single-yeast-colony PCR and multiple labeling.

M. Ross, H. Lehrach, D. Nižetić, 1992, Genomics.

Multiple variants in subtelomeric regions of normal karyotypes.

A. Baldini, R. A. Wells, E. Lindsay, 1992, Genomics.

Isolation of chromosome-specific genes by reciprocal probing of arrayed cDNA and cosmid libraries.

A. C. Chinault, J. Bailey, A. Baldini, 1995, Human molecular genetics.

Diagnosis of X-linked adrenal hypoplasia congenita by mutation analysis of the DAX1 gene.

M. Horlick, L. Biesecker, A. Baldini, 1995, JAMA.

Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus

R. Shprintzen, P. Scambler, R. Williamson, 1992, The Lancet.

Smith-Magenis syndrome deletion: a case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization.

B. Trask, G. van den Engh, J. Lupski, 1995, American journal of medical genetics.

Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways.

F. Vitelli, A. Baldini, M. Morishima, 2002, Human molecular genetics.

Human very-low-density lipoprotein receptor complementary DNA and deduced amino acid sequence and localization of its gene (VLDLR) to chromosome band 9p24 by fluorescence in situ hybridization.

A. Baldini, L. Chan, K. Oka, 1994, Genomics.

Genetic dissection of the DiGeorge syndrome phenotype.

F. Vitelli, A. Baldini, E. Lindsay, 2002, Cold Spring Harbor symposia on quantitative biology.

Erratum to the report of the third international workshop on human Y chromosome mapping 1997

A. Uitterlinden, E. Mullaart, A. Protopopov, 1997 .

A genetic etiology for interruption of the aortic arch type B.

J. Towbin, A. Baldini, M. Lewin, 1997, The American journal of cardiology.

Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity

J. Lupski, M. Justice, S. Wu, 2006, Human Genetics.

Comparative mapping of the DiGeorge syndrome region in mouse shows inconsistent gene order and differential degree of gene conservation

A. Baldini, A. Botta, V. Jurecic, 1997, Mammalian Genome.

Tbx1 expression in pharyngeal epithelia is necessary for pharyngeal arch artery development

Joshua W. Vincentz, F. Vitelli, A. Baldini, 2005, Development.

Mapping human YAC clones by fluorescence in situ hybridization using Alu-PCR from single yeast colonies.

A. Baldini, E. Lindsay, 1994, Methods in molecular biology.

Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract

B. Bruneau, R. Schwartz, A. Baldini, 2004, Development.

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

I. Dunham, C. Roberts, A. Baldini, 1993, Human molecular genetics.

Cloning and comparative mapping of a gene from the commonly deleted region of DiGeorge and Velocardiofacial syndromes conserved in C. elegans

P. Scambler, A. Baldini, P. Rizzu, 1996, Mammalian Genome.

Deletion of chromosome 22q11 and pseudohypoparathyroidism.

A. Baldini, W. Craigen, J. T. Bricker, 1997, American journal of medical genetics.

Functional analysis of Gscl in the pathogenesis of the DiGeorge and velocardiofacial syndromes.

R. Behringer, J. Rivera-Pérez, E. Lindsay, 1998, Human molecular genetics.

ES2, a gene deleted in DiGeorge syndrome, encodes a nuclear protein and is expressed during early mouse development, where it shares an expression domain with a Goosecoid-like gene.

P. Scambler, A. Baldini, E. Lindsay, 1998, Human molecular genetics.

A mouse gene (Dgcr6) related to the Drosophila gonadal gene is expressed in early embryogenesis and is the homolog of a human gene deleted in DiGeorge syndrome.

A. Baldini, E. Lindsay, 1997, Cytogenetics and cell genetics.

LIS2, gene and pseudogene, homologous to LIS1 (lissencephaly 1), located on the short and long arms of chromosome 2.

D. Ledbetter, I. Bar-Am, A. Baldini, 1995, Genomics.

Chromosomal microdeletions: dissecting del22q11 syndrome

E. Lindsay, 2001, Nature Reviews Genetics.