Deletion 12q: A second patient with 12q24.31q24.32 deletionPLOTNER, Pamela L; SMITH, Janice L; NORTHRUP, Hope et al.American journal of medical genetics. 2003, Vol 118A, Num 4, pp 350-352, issn 0148-7299, 3 p.Article

A 10 bp Deletion Polymorphism and 2 New Variations in the GLUTI Gene Associated With MeningomyeloceleCORMIER, Clint M; KIT SING AU; NORTHRUP, Hope et al.Reproductive sciences (Thousand Oaks, Calif.). 2011, Vol 18, Num 5, pp 463-468, issn 1933-7191, 6 p.Article

Trisomy 20q caused by der(4) t(4;20) (q35;q13.1): Report of a new patient and review of the literaturePLOTNER, Pamela L; SMITH, Janice L; NORTHRUP, Hope et al.American journal of medical genetics. 2002, Vol 111, Num 1, pp 71-75, issn 0148-7299Article

Horseshoe Kidney and a Rare TSC2 Variant in Two Unrelated Individuals With Tuberous Sclerosis ComplexNIEMI, Anna-Kaisa; NORTHRUP, Hope; HUDGINS, Louanne et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 10, pp 2534-2537, issn 1552-4825, 4 p.Article

EPIDEMIOLOGIC AND GENETIC ASPECTS OF SPINA BIFIDA AND OTHER NEURAL TUBE DEFECTSKIT SING AU; ASHLEY-KOCH, Allison; NORTHRUP, Hope et al.Developmental disabilities research reviews. 2010, Vol 16, Num 1, pp 6-15, issn 1940-5510, 10 p.Article

Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformationGRINBERG, Inessa; NORTHRUP, Hope; ARDINGER, Holly et al.Nature genetics. 2004, Vol 36, Num 10, pp 1053-1055, issn 1061-4036, 3 p.Article

Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa : A screen of known genes in 200 familiesSULLIVAN, Lori S; BOWNE, Sara J; GIRE, Anisa I et al.Investigative ophthalmology & visual science. 2006, Vol 47, Num 7, pp 3052-3064, issn 0146-0404, 13 p.Article

Genes in Glucose Metabolism and Association With Spina BifidaDAVIDSON, Christina M; NORTHRUP, Hope; KING, Terri M et al.Reproductive sciences (Thousand Oaks, Calif.). 2008, Vol 15, Num 1, pp 51-58, issn 1933-7191, 8 p.Article

Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNAZHANG, Yao-Hua; HUANG, Bing-Ling; JIALAL, Ishwarlal et al.Pediatric research. 2006, Vol 59, Num 4, pp 590-592, issn 0031-3998, 3 p., 1Article

Circadian pattern of blood pressure, heart rate, and double product in liver glycogen storage diseaseYETMAN, Robert J; ANDREW-CASAL, Melanie; HERMIDA, Ramon C et al.Chronobiology international. 2002, Vol 19, Num 4, pp 765-783, issn 0742-0528Article

The generation and characterization of a cell line derived from a sporadic renal angiomyolipoma : Use of telomerase to obtain stable populations of cells from benign neoplasmsARBISER, Jack L; YEUNG, Raymond; ONDA, Hiroki et al.The American journal of pathology. 2001, Vol 159, Num 2, pp 483-491, issn 0002-9440Article

Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlationsKOZLOWSKI, Piotr; ROBERTS, Penelope; JOZWIAK, Sergiusz et al.Human genetics. 2007, Vol 121, Num 3-4, pp 389-400, issn 0340-6717, 12 p.Article

Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic ricketsRUPPE, Mary D; BROSNAN, Patrick G; KIT SING AU et al.Clinical endocrinology (Oxford. Print). 2011, Vol 74, Num 3, pp 312-318, issn 0300-0664, 7 p.Article

Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifidaMARTINEZ, Carla A; NORTHRUP, Hope; LIN, Jone-Ing et al.American journal of obstetrics and gynecology. 2009, Vol 201, Num 4, pp 394-396, issn 0002-9378, 3 p.Conference Paper

Spinal lesion level in spina bifida: A source of neural and cognitive heterogeneityFLETCHER, Jack M; COPELAND, Kim; DRAKE, James M et al.Journal of neurosurgery. Pediatrics. 2005, Vol 102, Num 3, pp 268-279, issn 1933-0707, 12 p.Article