Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly.

Familial half cryptic translocation t(9;17). J Med Genet (1994) 1.62

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am J Hum Genet (2003) 1.61

Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders. J Med Genet (1993) 1.37

The involvement of Reelin in neurodevelopmental disorders. Neuropharmacology (2012) 1.32

Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non-canonical E box and acts as a transcriptional repressor. EMBO J (1997) 1.25

Clinical manifestations and evaluation of isolated lissencephaly. Childs Nerv Syst (1993) 0.95

Lissencephaly gene product. Localization in the central nervous system and loss of immunoreactivity in Miller-Dieker syndrome. Am J Pathol (1995) 0.92

Chromosomal map of human brain malformations. Hum Genet (2008) 0.85

Identification of an unbalanced cryptic translocation t(9;17)(q34.3;p13.3) in a child with dysmorphic features. J Med Genet (1995) 0.84

Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22. J Med Genet (1997) 0.84

Miller-Dieker syndrome: analysis of a human contiguous gene syndrome in the mouse. Am J Hum Genet (2003) 0.83

Detecting deletions in the critical region for lissencephaly on 17p13.3 using fluorescent in situ hybridisation and a PCR assay identifying a dinucleotide repeat polymorphism. J Med Genet (1995) 0.80

Disorders caused by chromosome abnormalities. Appl Clin Genet (2010) 0.76

Genetic factors in lissencephaly syndromes: a review. Childs Nerv Syst (1993) 0.75

Classical lissencephaly syndromes: does the face reflect the brain? J Med Genet (1998) 0.75

Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation. J Med Genet (1996) 0.75

Separation of yeast chromosome-sized DNAs by pulsed field gradient gel electrophoresis. Cell (1984) 31.52

Cloning of large segments of exogenous DNA into yeast by means of artificial chromosome vectors. Science (1987) 17.15

Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sources. Proc Natl Acad Sci U S A (1989) 8.68

Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction. Proc Natl Acad Sci U S A (1990) 6.20

Contiguous gene syndromes: a component of recognizable syndromes. J Pediatr (1986) 3.18

Regional mapping panel for human chromosome 17: application to neurofibromatosis type 1. Genomics (1987) 3.12

Clinical and molecular diagnosis of Miller-Dieker syndrome. Am J Hum Genet (1991) 2.09

Hereditary spherocytosis associated with deletion of human erythrocyte ankyrin gene on chromosome 8. Nature (1990) 1.99

Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly. Am J Med Genet (1984) 1.95

Detection of bcr-abl fusion in chronic myelogeneous leukemia by in situ hybridization. Science (1990) 1.90

Loss of human genetic markers in man--Chinese hamster somatic cell hybrids. Nat New Biol (1971) 1.88

Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization. Am J Hum Genet (1991) 1.86

Molecular dissection of a contiguous gene syndrome: frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated "island" in the Miller-Dieker chromosome region. Proc Natl Acad Sci U S A (1989) 1.33

The neurogenetics of lissencephaly. Neurol Clin (1989) 1.16

Alu-primed polymerase chain reaction for regional assignment of 110 yeast artificial chromosome clones from the human X chromosome: identification of clones associated with a disease locus. Proc Natl Acad Sci U S A (1991) 1.06

Isolated lissencephaly: report of four patients from two unrelated families. J Child Neurol (1990) 1.04

Human chromosome 17 NotI linking clones and their use in long-range restriction mapping of the Miller-Dieker chromosome region (MDCR) in 17p13.3. Genomics (1990) 0.99

Chromosome 17 deletions and p53 gene mutations in colorectal carcinomas. Science (1989) 11.53

Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sources. Proc Natl Acad Sci U S A (1989) 8.68

Multicolor spectral karyotyping of human chromosomes. Science (1996) 7.65

Five polymorphic microsatellite VNTRs on the human X chromosome. Am J Hum Genet (1990) 5.38

Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature (1993) 4.87

Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell (1998) 4.44

Rapid isolation of DNA probes within specific chromosome regions by interspersed repetitive sequence polymerase chain reaction. Genomics (1990) 4.34

Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron (1998) 4.26

Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. N Engl J Med (1981) 4.25

Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet (1988) 4.21

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet (1997) 4.12

Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nat Genet (1994) 4.04

Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality. Nat Genet (1998) 3.89

Human hepatic lipase. Cloned cDNA sequence, restriction fragment length polymorphisms, chromosomal localization, and evolutionary relationships with lipoprotein lipase and pancreatic lipase. J Biol Chem (1988) 3.74

Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. Am J Hum Genet (2001) 3.57

A developmental and genetic classification for malformations of cortical development. Neurology (2005) 3.50

Regional mapping panel for human chromosome 17: application to neurofibromatosis type 1. Genomics (1987) 3.12

Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet (2005) 3.11

Comment on "The Brain of LB1, Homo floresiensis". Science (2006) 3.05

Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nat Genet (1995) 3.03

Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome. Am J Hum Genet (1988) 2.97

Organization of the HPRT gene and related sequences in the human genome. Somat Cell Mol Genet (1984) 2.84

Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17. Am J Hum Genet (1990) 2.77

Genetic analysis of indefinite division in human cells: evidence for a cell senescence-related gene(s) on human chromosome 4. Proc Natl Acad Sci U S A (1991) 2.64

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13). Hum Mol Genet (1999) 2.62

Dinucleotide repeat polymorphisms at the D17S250 and D17S261 loci. Nucleic Acids Res (1990) 2.62

Classification system for malformations of cortical development: update 2001. Neurology (2001) 2.59

Localization of the X inactivation centre on the human X chromosome in Xq13. Nature (1991) 2.48

Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases. Am J Hum Genet (1982) 2.44

Further comments on the lissencephaly syndromes. Am J Med Genet (1985) 2.42

Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. JAMA (1993) 2.36

An optimized set of human telomere clones for studying telomere integrity and architecture. Am J Hum Genet (2000) 2.36

Methylation-specific PCR simplifies imprinting analysis. Nat Genet (1997) 2.33

Cytogenetic findings in a prospective series of patients with DiGeorge anomaly. Am J Hum Genet (1988) 2.27

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am J Hum Genet (1991) 2.26

Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome. Am J Med Genet (1999) 2.24

Deletion and amplification of the HGPRT locus in Chinese hamster cells. Mol Cell Biol (1983) 2.10

Clinical and molecular diagnosis of Miller-Dieker syndrome. Am J Hum Genet (1991) 2.09

Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy. Hum Mol Genet (1993) 2.02

Olfactory receptor gene cluster on human chromosome 17: possible duplication of an ancestral receptor repertoire. Hum Mol Genet (1994) 2.00

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. Brain (2006) 2.00

Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology (2001) 1.97

Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly. Am J Med Genet (1984) 1.95

A rodent-human hybrid containing Xq24-qter translocated to a hamster chromosome expresses the Xq27 folate-sensitive fragile site. Am J Med Genet (1986) 1.94

Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. Neurology (2007) 1.90

American College of Medical Genetics statement of diagnostic testing for uniparental disomy. Genet Med (2001) 1.86

Familial DiGeorge syndrome and associated partial monosomy of chromosome 22. Hum Genet (1984) 1.86

Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization. Am J Hum Genet (1991) 1.86

A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Hum Mol Genet (1997) 1.84

Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation. Proc Natl Acad Sci U S A (1987) 1.83

Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation. Am J Hum Genet (1997) 1.82

Highly polymorphic locus D15S24 (CMW-1) maps to 15pter-q13. [HGM9 provisional no. D15S24]. Nucleic Acids Res (1988) 1.82

In vitro translation of hypoxanthine/guanine phosphoribosyltransferase mRNA: characterization of a mouse neuroblastoma cell line that has elevated levels of hypoxanthine/guanine phosphoribosyltransferase protein. Proc Natl Acad Sci U S A (1981) 1.81

Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. Hum Mol Genet (2001) 1.80

Fine structure DNA mapping studies of the chromosomal region harboring the genetic defect in neurofibromatosis type I. Am J Hum Genet (1989) 1.80

The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities. N Engl J Med (1989) 1.79

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. Neurology (2008) 1.78

New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13. Hum Genet (1984) 1.78

Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. Am J Hum Genet (1995) 1.78

Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis. Am J Hum Genet (1984) 1.73

Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. Am J Hum Genet (1991) 1.67

The human homolog of murine Evi-2 lies between two von Recklinghausen neurofibromatosis translocations. Genomics (1990) 1.66

Fragile X syndrome: a unique mutation in man. Annu Rev Genet (1986) 1.66

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. Nat Genet (1992) 1.66

Microlissencephaly: a heterogeneous malformation of cortical development. Neuropediatrics (1998) 1.65

Hypoparathyroidism and T cell immune defect in a patient with 10p deletion syndrome. J Pediatr (1986) 1.65

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. J Med Genet (2005) 1.58

LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Hum Mol Genet (1998) 1.57

Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. Hum Mol Genet (1997) 1.57

Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation. Am J Med Genet (1995) 1.56

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. J Med Genet (2004) 1.56

Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. Ann Neurol (1997) 1.56

Expression of the fragile (X) chromosome in an interspecific somatic cell hybrid. Hum Genet (1983) 1.55

Human ubiquitin-protein ligase Nedd4: expression, subcellular localization and selective interaction with ubiquitin-conjugating enzymes. Genes Cells (1998) 1.54

Physical mapping of the von Recklinghausen neurofibromatosis region on chromosome 17. Am J Hum Genet (1989) 1.54

Fluorescence in situ hybridization with Alu and L1 polymerase chain reaction probes for rapid characterization of human chromosomes in hybrid cell lines. Proc Natl Acad Sci U S A (1990) 1.52

Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy. Am J Hum Genet (1992) 1.52

Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus. J Pediatr (1999) 1.52

Developmental aspects of lissencephaly and the lissencephaly syndromes. Birth Defects Orig Artic Ser (1987) 1.50

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). J Med Genet (2009) 1.50

Towards an evidence-based process for the clinical interpretation of copy number variation. Clin Genet (2011) 1.50

Report of the committee on cytogenetic markers. Cytogenet Cell Genet (1989) 1.48

Localization of cloned unique DNA to three different regions of chromosome 19: screen for linkage probes for myotonic dystrophy. J Neurogenet (1985) 1.48

Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. Am J Med Genet (1986) 1.47

Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. Ann Neurol (1999) 1.47

Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. Neurology (2004) 1.47

Miller-Dieker syndrome: lissencephaly and monosomy 17p. J Pediatr (1983) 1.46

Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts. Mol Psychiatry (2012) 1.45

Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E). Hum Mol Genet (1994) 1.44

Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome. Am J Med Genet (1986) 1.44

A randomized comparison of transcervical and transabdominal chorionic-villus sampling. The U.S. National Institute of Child Health and Human Development Chorionic-Villus Sampling and Amniocentesis Study Group. N Engl J Med (1992) 1.43