Genomes and Genes
M A Parisi
Affiliation: University of Washington
- Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?Melissa A Parisi
Division of Genetics and Development, Department of Pediatrics, University of Washington and Children s Hospital and Regional Medical Center, Seattle, Washington 98105, USA
Am J Med Genet 108:51-6. 2002....
- A Gender Assessment Team: experience with 250 patients over a period of 25 yearsMelissa A Parisi
Division of Genetics and Developmental Medicine, Department of Pediatrics, Children s Hospital and Regional Medical Center, Seattle, Washington 98105, USA
Genet Med 9:348-57. 2007....
- Joubert syndrome (and related disorders) (OMIM 213300)Melissa A Parisi
Division of Genetics and Developmental Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195 6320, USA
Eur J Hum Genet 15:511-21. 2007..Recent identification of the NPHP1, AHI1, and CEP290 genes has started to reveal the molecular basis of JS, which may implicate the primary cilium in these disorders. Additional genes remain to be identified...
- AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndromeM A Parisi
Department of Pediatrics, Children s Hospital and Regional Medical Center and the University of Washington School of Medicine, Seattle, WA 98195, USA
J Med Genet 43:334-9. 2006..Four genetic loci have been mapped, with two genes identified (AHI1 and NPHP1)...
- The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndromeMelissa A Parisi
Division of Genetics and Developmental Medicine, Department of Pediatrics, University of Washington, Seattle, 98195, USA
Am J Hum Genet 75:82-91. 2004..Cerebellar malformations consistent with the MTS may be relatively common in patients with juvenile NPHP without classic symptoms of JS...
- Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: functional magnetic resonance imaging (MRI) studyMelissa A Parisi
Department of Pediatrics, University of Washington, School of Medicine, Seattle 98195, USA
J Child Neurol 19:214-8. 2004..Malformation of the hindbrain could result in recruitment of alternative pathways, similar to what has been observed following ischemic injury to the developing or mature central nervous system...
- Human malformations of the midbrain and hindbrain: review and proposed classification schemeMelissa A Parisi
Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
Mol Genet Metab 80:36-53. 2003..We anticipate that as imaging technologies improve, differentiation of the various disorders should aid in efforts to identify the causative genes...
- CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290Nicholas T Gorden
Division of Genetics and Developmental Medicine, Department of Pediatrics, School of Medicine, University of Washington, Seattle, WA 98195, USA
Am J Hum Genet 83:559-71. 2008..These observations extend the genetic spectrum of JSRD and provide a model system for studying extragenic modifiers in JSRD and other ciliopathies...
- Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)D Doherty
University of Washington, Seattle, WA 98195 0320, USA
J Med Genet 47:8-21. 2010..To identify genetic causes of COACH syndrome..
- Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) geneCraig L Bennett
Division of Genetics and Development, Department of Pediatrics, University of Washington, School of Medicine, Seattle, Washington 98195, USA
Am J Med Genet A 125:117-24; discussion 117. 2004....
- A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritanceAnne V Hing
Department of Pediatrics, University of Washington, Seattle, Washington, USA
Am J Med Genet A 140:804-12. 2006..We propose that these individuals have inherited a novel autosomal recessive condition we have termed oculo-oto-facial dysplasia (OOFD) with unique radiographic findings...
- Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRIDan Doherty
University of Washington Children s Hospital and Regional Medical Center, Department of Pediatrics, Seattle, WA, USA
Prenat Diagn 25:442-7. 2005..To describe the prenatal imaging findings in fetuses at risk for Joubert syndrome (JS), review the literature and propose a protocol for prenatal diagnosis of JS using ultrasound and MRI...
- The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4John A Sayer
Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA
Nat Genet 38:674-81. 2006..Our findings help establish the link between centrosome function, tissue architecture and transcriptional control in the pathogenesis of cystic kidney disease, retinal degeneration, and central nervous system development...
- Congenital diaphragmatic hernia and microtia in a newborn with mycophenolate mofetil (MMF) exposure: phenocopy for Fryns syndrome or broad spectrum of teratogenic effects?Melissa A Parisi
Department of Pediatrics, Seattle Children s Hospital, University of Washington, Seattle, Washington 98105, USA
Am J Med Genet A 149:1237-40. 2009..Thus, a teratogenic exposure can mimic a known Mendelian genetic syndrome, and caution is urged in presuming a genetic etiology for infants with potential teratogenic exposure to relatively new drugs with limited published animal data...
- Multiple fetal anomalies associated with subtle subtelomeric chromosomal rearrangementsV L Souter
Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98105 0371, USA
Ultrasound Obstet Gynecol 21:609-15. 2003..This is the first report of multiple, simultaneous FISH screening of the subtelomeric regions in amniotic fluid and has demonstrated the technical feasibility of this technique in the prenatal period...
- Micropenis with testicular regression, low LH levels, and poor androgen and HCG responses: a distinct syndrome?Melissa A Parisi
Division of Genetics and Development, Children s Hospital and Regional Medical Center, University of Washington, PO Box 5371 CH 25, Seattle, WA 98105 0371, USA
Am J Med Genet 109:271-7. 2002....
- Evaluation of Hox11L1 in the fmc/fmc rat model of chronic intestinal pseudo-obstructionMelissa A Parisi
Department of Pediatrics, Children s Hospital and Regional Medical Center and University of Washington, Seattle, WA 98105, USA
J Pediatr Surg 40:1760-5. 2005..We hypothesized that fmc is a mutant allele of the rat Hox11L1 gene and tested this hypothesis by direct sequencing...
- Hox11L1 expression by precursors of enteric smooth muscle: an alternative explanation for megacecum in HOX11L1-/- miceRaj P Kapur
Department of Pathology, Children s Hospital and Regional Medical Center, 4800 Sand Point Way NE, Seattle, WA 98105, USA
Pediatr Dev Pathol 8:148-61. 2005....
- Variable presentation of nemaline myopathy: novel mutation of alpha actin geneAnthony A Bouldin
Division of Pediatric Neurology, Department of Neurology, University of Washington, Children s Hospital and Regional Medical Center, Seattle, Washington 98105, USA
Muscle Nerve 35:254-8. 2007..This pair illustrates the clinical variability of nemaline myopathy, highlighting the possible influence of environmental and epigenetic factors. Implications for the current classification system and prognosis are discussed...
- Möbius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndromeAlain Verloes
Clinical Genetic Unit, Hospital Robert Debre, Paris, France
Am J Med Genet A 127:277-87. 2004..Despite the existence of two familial reports, recurrence risk is probably much lower than 25%, although exact figures cannot be extracted from the available literature...
- Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndromeJuliana Helou
J Med Genet 44:657-63. 2007..In Senior-Løken syndrome (SLSN), NPHP is associated with retinal degeneration. Recently, mutations in NPHP6/CEP290 were identified as a new cause of JBTS...
- Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndromeHeleen H Arts
Department of Human Genetics, Radboud University Nijmegen Medical Centre and Nijmegen Centre for Molecular Life Sciences, 6500 HB Nijmegen, The Netherlands
Nat Genet 39:882-8. 2007..This work identifies RPGRIP1L as a gene responsible for JBTS and establishes a central role for cilia and basal bodies in the pathophysiology of this disorder...
- Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromesJoseph G Gleeson
Division of Pediatric Neurology, Department of Neurosciences, University of California, San Diego, California 92093 0624, USA
Am J Med Genet A 125:125-34; discussion 117. 2004..Proper classification of patients with these variants of the MTS will be essential for localization and identification of mutant genes...
- Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologiesCheryl Shuman
Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario, Canada
Am J Med Genet A 140:1497-503. 2006..Of note, two of the eight patients with UPD and IH were conceived using assisted reproductive technologies (ART), thus raising the question whether ART might impact the rate of somatic recombination during embryonic development...
- Constitutional rearrangement of the architectural factor HMGA2: a novel human phenotype including overgrowth and lipomasAzra H Ligon
Department of Pathology, Gynecology and Reproductive Biology, Brigham and Women s Hospital, and Harvard Medical School, Boston, MA, USA
Am J Hum Genet 76:340-8. 2005..Systematic genetic analysis and clinical studies of this child may offer unique insights into the role of HMGA2 in adipogenesis, osteogenesis, and general growth control...
- Molecular basis of Joubert syndrome and related diseasesMelissa Parisi; Fiscal Year: 2007..abstract_text> ..