Published in Am J Med Genet on September 01, 1985
Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome. Am J Hum Genet (1988) 2.97
Clinical and molecular diagnosis of Miller-Dieker syndrome. Am J Hum Genet (1991) 2.09
Unknown syndrome: pachygyria, joint contractures, and facial abnormalities. J Med Genet (1989) 1.50
Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene. J Neurol Neurosurg Psychiatry (1994) 1.12
Schizophrenia and epilepsy: is there a shared susceptibility? Neurosci Res (2009) 1.09
Neuropathology of lissencephalies. Childs Nerv Syst (1993) 0.80
The clinical and radiological evaluation of lissencephaly. J Natl Med Assoc (1988) 0.75
Identification of brain malformations: neuropathological approach. Childs Nerv Syst (2003) 0.75
Magnetic resonance imaging of supratentorial congenital brain malformations. J Natl Med Assoc (1989) 0.75
Genetic factors in lissencephaly syndromes: a review. Childs Nerv Syst (1993) 0.75
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
Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron (1998) 4.26
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet (1997) 4.12
A developmental and genetic classification for malformations of cortical development. Neurology (2005) 3.50
Severe end of Opitz trigonocephaly (C) syndrome or new syndrome? Am J Med Genet (1999) 3.11
Comment on "The Brain of LB1, Homo floresiensis". Science (2006) 3.05
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nat Genet (1997) 3.03
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
Classification system for malformations of cortical development: update 2001. Neurology (2001) 2.59
International system for human gene nomenclature (1979) ISGN (1979). Cytogenet Cell Genet (1979) 2.58
The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971. Am J Med Genet (1983) 2.53
Resynthesizing evolutionary and developmental biology. Dev Biol (1996) 2.50
Conference report: International Workshop on the fragile X and X-linked mental retardation. Am J Med Genet (1984) 2.49
Noonan syndrome: a review. Am J Med Genet (1985) 2.40
The cardiofaciocutaneous syndrome. J Med Genet (2006) 2.32
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
Errors of morphogenesis: concepts and terms. Recommendations of an international working group. J Pediatr (1982) 2.04
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
Studies of malformation syndromes of man 33: the FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation. Z Kinderheilkd (1974) 1.93
Pericentric inversion of chromosome 14 and the risk of partial duplication of 14q (14q31 leads to 14qter). Am J Med Genet (1977) 1.93
Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. Neurology (2007) 1.90
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
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
New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13. Hum Genet (1984) 1.78
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. Neurology (2008) 1.78
The DiGeorge anomaly as a developmental field defect. Am J Med Genet Suppl (1986) 1.77
The Brachmann-de Lange syndrome. Am J Med Genet (1985) 1.76
Meier-Gorlin syndrome: report of eight additional cases and review. Am J Med Genet (2001) 1.76
New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome. Am J Med Genet (1986) 1.71
Microlissencephaly: a heterogeneous malformation of cortical development. Neuropediatrics (1998) 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
Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism. Clin Genet (1975) 1.56
I-cell disease: a clinical picture. J Pediatr (1971) 1.54
The dup(3q) syndrome: report of eight cases and review of the literature. Am J Med Genet (1981) 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
Microcephaly, lymphedema, and chorioretinal dysplasia: report of two additional cases. Am J Med Genet (1994) 1.50
"C" trigonocephaly syndrome: clinical variability and possibility of surgical treatment. Am J Med Genet (1990) 1.50
The neurofibromatosis-Noonan syndrome. Am J Med Genet (1985) 1.49
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
Associations and syndromes: terminology in clinical genetics and birth defects epidemiology: comments on Khoury, Moore, and Evans. Am J Med Genet (1994) 1.46
Differential diagnosis of Nager acrofacial dysostosis syndrome: report of four patients with Nager syndrome and discussion of other related syndromes. Am J Med Genet (1983) 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
The SC phocomelia and the Roberts syndrome: nosologic aspects. Eur J Pediatr (1977) 1.43
CNS anomalies and the midline as a "developmental field". Am J Med Genet (1982) 1.43
Fibular a/hypoplasia: review and documentation of the fibular developmental field. Am J Med Genet Suppl (1986) 1.43
Acute inflammatory demyelinating polyradiculoneuropathy (Guillain-Barré syndrome) after immunization with Haemophilus influenzae type b conjugate vaccine. J Pediatr (1989) 1.42
Cytological mapping of human X-linked genes by use of somatic cell hybrids involving an X-autosome translocation (mouse-hamster-human X-linked markers). Proc Natl Acad Sci U S A (1972) 1.42
Trisomy 2p syndrome: a fetus with anencephaly and postaxial polydactyly. Am J Med Genet (1999) 1.41
Syndromal foramina parietalia permagna: "new" or FG syndrome? Comments on the paper by Chrzanowska et al [1998]. Am J Med Genet (1998) 1.40
A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. J Med Genet (2003) 1.40
Ectopia cordis and cleft sternum: evidence for mechanical teratogenesis following rupture of the chorion or yolk sac. Am J Med Genet (1985) 1.40
Autosomal recessive severe dwarfism in a Sicilian girl: a new form of osteodysplastic primordial dwarfism? Am J Med Genet (1996) 1.39
Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: a treatable cardiomyopathy. N Engl J Med (1981) 1.38
Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities. Am J Med Genet (1997) 1.38
Absence makes the search grow longer. Am J Hum Genet (1996) 1.38
Polyalanine expansion of ARX associated with cryptogenic West syndrome. Neurology (2003) 1.37
The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies. Birth Defects Orig Artic Ser (1975) 1.36
Clinical nosologic and genetic aspects of Joubert and related syndromes. J Child Neurol (1999) 1.35
The Genetics of Angiokeratoma Corporis Diffusum (Fabry's Disease) and Its Linkage Relations with the Xg Locus. Am J Hum Genet (1965) 1.31
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. J Med Genet (2009) 1.31
Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly. Am J Hum Genet (1992) 1.29
Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. Neuropediatrics (2001) 1.27
Studies of malformation syndromes of humans XXXIIIC: the FG syndrome - further studies on three affected individuals from the FG family. Am J Med Genet (1982) 1.27
Studies of malformation syndromes XXVA. Phenotypic and genetic studies of the Brachmann-de Lange Syndrome. Hum Hered (1971) 1.27
Apnea and sudden unexpected death in infants with achondroplasia. J Pediatr (1984) 1.26
Lethal forms of chondrodysplastic dwarfism. Pediatrics (1974) 1.26
The Stickler syndrome (hereditary arthroophthalmopathy). Birth Defects Orig Artic Ser (1975) 1.26
The Stickler syndrome. N Engl J Med (1972) 1.25
A new familial intrauterine growth retardation syndrome the "3-M syndrome". Eur J Pediatr (1976) 1.24
Albright hereditary osteodystrophy and del(2) (q37.3) in four unrelated individuals. Am J Med Genet (1995) 1.23
The Poland syndrome-clinical and genealogical data, dermatoglyphic analysis, and incidence. Hum Hered (1973) 1.22
Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes. Am J Hum Genet (2000) 1.22
Familial bilateral renal agenesis and hereditary renal adysplasia. Z Kinderheilkd (1973) 1.22
Further delineation of the C (trigonocephaly) syndrome. Am J Med Genet (1981) 1.21
[The campomelic syndrome]. Presse Med (1971) 1.21
Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14. J Med Genet (2001) 1.20
The trisomy 4p syndrome: case report and review. Am J Med Genet (1977) 1.20
Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. Eur J Hum Genet (2001) 1.19