Research Topics
Species | Daryl A ScottSummaryAffiliation: Baylor College of Medicine Country: USA Publications
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Publications
Congenital diaphragmatic hernia in WAGR syndromeD A Scott
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Am J Med Genet A 134:430-3. 2005..These cases demonstrate that congenital diaphragmatic hernia can be associated with WAGR syndrome and suggest that deletions of WT1 may predispose individuals to develop congenital diaphragmatic hernia...- Genetics of congenital diaphragmatic herniaDaryl A Scott
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Semin Pediatr Surg 16:88-93. 2007..We also provide practical information that can aid physicians and surgeons as they evaluate and care for patients with isolated, nonisolated, and syndromic forms of CDH and their families... - Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head sizeMarwan Shinawi
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, Texas 77030, USA
J Med Genet 47:332-41. 2010..Deletion and the reciprocal duplication in 16p11.2 were recently associated with autism and developmental delay... - Phenotypic manifestations of copy number variation in chromosome 16p13.11Sandesh C Sreenath Nagamani
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Eur J Hum Genet 19:280-6. 2011..Our findings expand the repertoire of clinical features observed in patients with CNV in 16p13.11 and strengthen the hypothesis that this is a dosage sensitive region with clinical relevance... - Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic herniaMargaret J Wat
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
J Med Genet 48:299-307. 2011..Congenital diaphragmatic hernia (CDH) is a life threatening birth defect. Most of the genetic factors that contribute to the development of CDH remain unidentified... - Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndromeSilke Schlaubitz
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Am J Med Genet A 143:1071-81. 2007..This suggests that the locus 9q33-9q34 can be excluded for GPS and that the presented case is unique in its combination of GPS and NPS features caused by a microdeletion associated with loss of function of LMX1B and NR5A1... - WAGR(O?) syndrome and congenital ptosis caused by an unbalanced t(11;15)(p13;p11.2)dn demonstrating a 7 megabase deletion by FISHP A Lennon
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77021, USA
Am J Med Genet A 140:1214-8. 2006.... - Fine-Lubinsky syndrome: sibling pair suggests possible autosomal recessive inheritanceAshley M Holder
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Am J Med Genet A 143:2576-80. 2007..It is important that parents of children with Fine-Lubinsky be informed of the increased recurrence risk associated with that type of inheritance... - Delineation of a 1.65 Mb critical region for hemihyperplasia and digital anomalies on Xq25Christian B Ricks
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Am J Med Genet A 152:453-8. 2010.... - Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic herniaMargaret J Wat
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Am J Med Genet A 149:1661-77. 2009..1 deletions. These findings also underscore the importance of conducting a careful cytogenetic/molecular analysis of the 8p23.1 region in all prenatal and postnatal cases involving congenital defects of the heart and/or diaphragm... - Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogeneticsSau W Cheung
Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030
Am J Med Genet A 143:1679-86. 2007..This suggests that aCGH may detect somatic chromosomal mosaicism that would be missed by conventional cytogenetics... - A 1q42 deletion involving DISC1, DISC2, and TSNAX in an autism spectrum disorderJaime M Williams
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Am J Med Genet A 149:1758-62. 2009.... - Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic herniaDaryl A Scott
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
Hum Mol Genet 16:424-30. 2007..This method is more sensitive than G-banded chromosome analysis and may find wide application in screening patients with congenital anomalies... - Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemiaMargaret J Wat
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
J Med Genet 47:777-81. 2010..Congenital diaphragmatic hernia (CDH) can occur in isolation or in association with other abnormalities. We hypothesised that some cases of non-isolated CDH are caused by novel genomic disorders... - Delineation of a less than 200 kb minimal deleted region for cardiac malformations on chromosome 7p22Elliott G Richards
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Am J Med Genet A 155:1729-34. 2011..It is likely that one or more of these five genes, alone or in combination, plays an important, yet previously uncharacterized, role in cardiac development... - Genetic factors in congenital diaphragmatic herniaA M Holder
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Am J Hum Genet 80:825-45. 2007.... - De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasiaSmita M Purandare
Section of Genetics, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma 73104, USA
Am J Med Genet A 146:453-8. 2008..Further studies might unravel a new regulatory element for RUNX2...
Research Grants
- Molecular Genetics of Congenital Diaphragmatic HerniaDaryl Scott; Fiscal Year: 2007..Identifying and characterizing the genes that cause CDH may lead to the development of new preventative and therapeutic strategies, and will provide insight into the molecular basis of diaphragm development. ..
- Retinoid-Related Genes in Diaphragm and Cardiac DevelopmentDaryl A Scott; Fiscal Year: 2010..This knowledge may lead to the development of new ways to diagnose, prevent or treat these birth defects. ..