Published in Am J Med Genet on June 30, 1998
Schimke immuno-osseous dysplasia: a clinicopathological correlation. J Med Genet (2006) 0.91
Generalized atherosclerosis sparing the transplanted kidney in Schimke disease. Pediatr Nephrol (2004) 0.88
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? Orphanet J Rare Dis (2012) 0.84
Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet (2000) 3.80
A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome. Proc Natl Acad Sci U S A (1999) 3.37
Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation. Am J Med Genet (1999) 3.02
Neurodevelopment of children exposed in utero to phenytoin and carbamazepine monotherapy. JAMA (1994) 2.82
EBV transformation and cell culturing destabilizes DNA methylation in human lymphoblastoid cell lines. Genomics (2009) 2.26
Ethical, legal, and practical concerns about recontacting patients to inform them of new information: the case in medical genetics. Am J Med Genet (2001) 1.91
22q11 deletion syndrome in adults with schizophrenia. Am J Med Genet (1998) 1.79
Unbalanced placental expression of imprinted genes in human intrauterine growth restriction. Placenta (2005) 1.73
Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. Am J Hum Genet (1996) 1.70
Phenotype of adults with the 22q11 deletion syndrome: A review. Am J Med Genet (1999) 1.52
Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature. Eur J Pediatr (2000) 1.48
Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities. Am J Med Genet (1997) 1.38
Aggressive surgical management of craniopharyngiomas in children. J Neurosurg (1992) 1.36
Chromosomal abnormalities and schizophrenia. Am J Med Genet (2000) 1.36
Velo-cardio-facial syndrome and psychotic disorders: implications for psychiatric genetics. Am J Med Genet (1994) 1.32
Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathy. J Pediatr (1996) 1.32
Structural alterations of DNA ligase I in Bloom syndrome. Proc Natl Acad Sci U S A (1987) 1.31
Molecular genetics of Wiedemann-Beckwith syndrome. Am J Med Genet (1998) 1.29
Arteriopathy and coarctation of the abdominal aorta in children with mucopolysaccharidosis: imaging findings. AJR Am J Roentgenol (1991) 1.29
Absence of the greater sphenoid wing in neurofibromatosis type I: congenital or acquired: case report. Neurosurgery (1995) 1.27
Infectious and inflammatory processes of the spine. Radiol Clin North Am (1991) 1.27
Qualitative MRI findings in adults with 22q11 deletion syndrome and schizophrenia. Biol Psychiatry (1999) 1.23
Diagnosis of ruptured intracranial dermoid cyst: value MR over CT. AJNR Am J Neuroradiol (1991) 1.22
Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2. Nat Genet (1995) 1.17
Serum alpha-fetoprotein levels in Beckwith-Wiedemann syndrome. J Pediatr (2000) 1.16
Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein. Am J Hum Genet (2000) 1.16
Neurologic manifestations of pediatric systemic lupus erythematosus. Pediatr Neurol (1995) 1.11
A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype. Am J Hum Genet (1991) 1.11
Spinal subdural enhancement after suboccipital craniectomy. AJNR Am J Neuroradiol (1996) 1.10
Pregnancy outcome and infant development following gestational cocaine use by social cocaine users in Toronto, Canada. Clin Invest Med (1992) 1.09
Expression of p57(KIP2) potently blocks the growth of human astrocytomas and induces cell senescence. Am J Pathol (2000) 1.07
Cyclosporine A neurotoxicity in a patient with idiopathic renal magnesium wasting. Pediatr Neurol (2000) 1.07
Patterns of dysmorphic features in schizophrenia. Am J Med Genet (2001) 1.03
Bridging markers defining the map position of X linked hypophosphataemic rickets. J Med Genet (1987) 1.02
Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping. Am J Med Genet (2000) 1.02
Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder. Clin Genet (2010) 1.00
Alström syndrome: further evidence for linkage to human chromosome 2p13. Hum Genet (1999) 0.99
The adult phenotype in Costello syndrome. Am J Med Genet A (2005) 0.99
Marshall-Smith syndrome: new radiographic, clinical, and pathologic observations. Radiology (1991) 0.99
De novo deletion 12q: report of a patient with 12q24.31q24.33 deletion. Am J Med Genet (1999) 0.99
Relaxation of imprinting of human insulin-like growth factor II gene, IGF2, in sporadic breast carcinomas. Biochem Biophys Res Commun (1997) 0.98
Analphoid 3qter markers. Am J Med Genet (2000) 0.96
Association of alveolar rhabdomyosarcoma with the Beckwith-Wiedemann syndrome. Pediatr Dev Pathol (2002) 0.95
Example of somatic mosaicism in a series of de novo neurofibromatosis type 1 cases due to a maternally derived deletion. Hum Mutat (1997) 0.95
Melanotic neuroectodermal tumor of infancy: clinical, radiologic, and pathologic findings in five cases. AJNR Am J Neuroradiol (1991) 0.94
Specific cellular defects in patients with Fanconi anemia. J Cell Physiol (1979) 0.94
Loss of heterozygosity mapping in Wilms tumor indicates the involvement of three distinct regions and a limited role for nondisjunction or mitotic recombination. Genes Chromosomes Cancer (1992) 0.94
A dominantly inherited cytogenetic anomaly: a possible cell division mutant. Hum Genet (1983) 0.94
Perceptions of Ashkenazi Jewish breast cancer patients on genetic testing for mutations in BRCA1 and BRCA2. Clin Genet (2000) 0.93
Cardiac anomalies in the Simpson-Golabi-Behmel syndrome. Am J Med Genet (1999) 0.92
Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis. Am J Med Genet (1995) 0.92
Benign intrinsic tectal "tumors" in children. J Neurosurg (1991) 0.91
GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome. Am J Med Genet (2001) 0.90
Evolution of the neuroimaging changes in fucosidosis type II. J Inherit Metab Dis (1996) 0.89
Localization of Beckwith-Wiedemann and rhabdoid tumor chromosome rearrangements to a defined interval in chromosome band 11p15.5. Genes Chromosomes Cancer (1994) 0.89
Molecular genetics of Beckwith-Wiedemann syndrome. Curr Opin Pediatr (1997) 0.88
Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat (2007) 0.88
Wilms tumor in three patients with Bloom syndrome. J Pediatr (1987) 0.88
Alterations of H19 imprinting and IGF2 replication timing are infrequent in Beckwith-Wiedemann syndrome. Genomics (2000) 0.88
Postmaturity in a genetic subtype of schizophrenia. Acta Psychiatr Scand (2003) 0.87
Variant translocations of chromosome 22 in Ewing's sarcoma. Genes Chromosomes Cancer (1993) 0.87
A distinct microvascular endothelial gene expression profile in severe IUGR placentas. Placenta (2012) 0.87
Diagnostic imaging of craniofacial fractures. Radiol Clin North Am (1989) 0.86
Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations. Genomics (2001) 0.86
Promoter-dependent tissue-specific expressive nature of imprinting gene, insulin-like growth factor II, in human tissues. Biochem Biophys Res Commun (1997) 0.86
An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster. J Med Genet (2006) 0.86
Low platelet count in a 22q11 deletion syndrome subtype of schizophrenia. Schizophr Res (2001) 0.85
Savant characteristics in a child with developmental delay and deletion in the short arm of chromosome 20. Dev Med Child Neurol (1995) 0.85
Abnormal extracellular matrix in Ehlers-Danlos syndrome type IV due to the substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen. Clin Genet (1996) 0.85
Further evidence that a 100 Kb critical region is responsible for developmental delay, seizures, and dysmorphic features in 1q43q44 deletion patients. Am J Med Genet A (2013) 0.85
Overgrowth syndromes and genomic imprinting: from mouse to man. Clin Genet (1998) 0.85
Mapping of the gene encoding the integrin-linked kinase, ILK, to human chromosome 11p15.5-p15.4. Genomics (1997) 0.84
New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome. Cytogenet Genome Res (2006) 0.84
Music skills and the expressive interpretation of music in children with Williams-Beuren syndrome: pitch, rhythm, melodic imagery, phrasing, and musical affect. Child Neuropsychol (2001) 0.84
Ring chromosome 22 and autism: report and review. Am J Med Genet (2000) 0.84
Eye problems in children with multiple sclerosis. Pediatr Neurol (1995) 0.83
Recurrent familial neonatal deaths: hereditary surfactant protein B deficiency. Am J Perinatol (2000) 0.82
Anesthetic considerations in Smith-Lemli-Opitz syndrome. Can J Anaesth (2000) 0.82
Linkage study in families with posterior helical ear pits and Wiedemann-Beckwith syndrome. Am J Med Genet (2001) 0.82
MR of infectious and inflammatory diseases of the spine. Crit Rev Diagn Imaging (1991) 0.81
FISH detection of chromosome 15 deletions in Prader-Willi and Angelman syndromes. Am J Med Genet (1996) 0.81
Prenatal sonographic diagnosis of hypochondroplasia in a high-risk fetus. Am J Med Genet (1999) 0.81
MRI findings in macrocephaly-cutis marmorata telangiectatica congenita. Am J Med Genet (1998) 0.80
Infantile myofibromatosis: a cause of vertebra plana. AJNR Am J Neuroradiol (1995) 0.80
Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome. Am J Hum Genet (1999) 0.79
Genetic disorders in the newborn infant. Can Fam Physician (1988) 0.79
Acute renal vein thrombosis, oral contraceptive use, and hyperhomocysteinemia. Mayo Clin Proc (2001) 0.79
Central nervous system malformations in ethylmalonic encephalopathy. Am J Med Genet (1998) 0.79
Infant outcome following mid-trimester amniocentesis: development and physical status at age six months. Br J Obstet Gynaecol (1985) 0.78
Wilms tumor in a patient with Prader-Willi syndrome. J Pediatr (1993) 0.78
Loss of imprinting of human insulin-like growth factor II gene, IGF2, in acute myeloid leukemia. Biochem Biophys Res Commun (1997) 0.78
Neuroblastoma after prenatal exposure to phenytoin: cause and effect? Teratology (1989) 0.78
Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia. J Med Genet (1996) 0.78
Genomic imprinting in tumours. Semin Cancer Biol (1996) 0.77
Rapid molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome. Am J Med Genet (2001) 0.77
Immunoablation does not delay the neurologic progression of X-linked adrenoleukodystrophy. J Pediatr (1997) 0.76
Current management of choroid plexus carcinoma in children. Pediatr Neurosurg (1992) 0.75
Magnetic resonance imaging of disturbances in neuronal migration: illustration of an embryologic process. Radiographics (1989) 0.75
Effect of genetic information on care. CMAJ (1996) 0.75