Published in Am J Med Genet on June 01, 1982
Two retarded male cousins with odd facies, hypotonia, and severe constipation: possible examples of the X linked FG syndrome. J Med Genet (1983) 0.96
Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene. Am J Med Genet A (2008) 0.93
FG syndrome. J Med Genet (1987) 0.90
Necropsy findings in a child with FG syndrome. J Med Genet (1986) 0.83
A syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion. J Med Genet (1994) 0.75
The nuclear receptor superfamily: the second decade. Cell (1995) 24.99
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell (2001) 11.99
Differential expression and activation of a family of murine peroxisome proliferator-activated receptors. Proc Natl Acad Sci U S A (1994) 6.46
Humanized xenobiotic response in mice expressing nuclear receptor SXR. Nature (2000) 3.41
Molecular nature of Spemann's organizer: the role of the Xenopus homeobox gene goosecoid. Cell (1991) 3.23
Severe end of Opitz trigonocephaly (C) syndrome or new syndrome? Am J Med Genet (1999) 3.11
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
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
Designing Endocrine Disruption Out of the Next Generation of Chemicals. Green Chem (2013) 2.47
Further comments on the lissencephaly syndromes. Am J Med Genet (1985) 2.42
Noonan syndrome: a review. Am J Med Genet (1985) 2.40
The cardiofaciocutaneous syndrome. J Med Genet (2006) 2.32
Reciprocal activation of xenobiotic response genes by nuclear receptors SXR/PXR and CAR. Genes Dev (2000) 2.15
Pitx2 determines left-right asymmetry of internal organs in vertebrates. Nature (1998) 2.10
The lethal myospheroid gene of Drosophila encodes a membrane protein homologous to vertebrate integrin beta subunits. Proc Natl Acad Sci U S A (1988) 2.08
Errors of morphogenesis: concepts and terms. Recommendations of an international working group. J Pediatr (1982) 2.04
Sequence determination of the Sendai virus HN gene and its comparison to the influenza virus glycoproteins. Cell (1985) 2.01
Peroxidasin: a novel enzyme-matrix protein of Drosophila development. EMBO J (1994) 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
Gastrulation in the mouse: the role of the homeobox gene goosecoid. Cell (1992) 1.83
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
Up-regulated p75NTR neurotrophin receptor on glial cells in MS plaques. Neurology (1999) 1.64
Isolation of the human peroxisome proliferator activated receptor gamma cDNA: expression in hematopoietic cells and chromosomal mapping. Gene Expr (1995) 1.63
Cross-talk among ROR alpha 1 and the Rev-erb family of orphan nuclear receptors. Mol Endocrinol (1994) 1.59
Procedure-related miscarriages and Down syndrome-affected births: implications for prenatal testing based on women's preferences. Obstet Gynecol (2000) 1.58
Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism. Clin Genet (1975) 1.56
Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1). Am J Hum Genet (1990) 1.54
I-cell disease: a clinical picture. J Pediatr (1971) 1.54
Tail formation as a continuation of gastrulation: the multiple cell populations of the Xenopus tailbud derive from the late blastopore lip. Development (1993) 1.52
The dup(3q) syndrome: report of eight cases and review of the literature. Am J Med Genet (1981) 1.52
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
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
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
Multiple left-right asymmetry defects in Shh(-/-) mutant mice unveil a convergence of the shh and retinoic acid pathways in the control of Lefty-1. Proc Natl Acad Sci U S A (1999) 1.43
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
Nerve dependency of regeneration: the role of Distal-less and FGF signaling in amphibian limb regeneration. Development (1996) 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
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
A comparison of laboratory and clinical methods for diagnosing pertussis in an outbreak in a facility for the developmentally disabled. J Infect Dis (1988) 1.37
P1148A in fibrillin-1 is not a mutation anymore. Nat Genet (1997) 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
The Genetics of Angiokeratoma Corporis Diffusum (Fabry's Disease) and Its Linkage Relations with the Xg Locus. Am J Hum Genet (1965) 1.31
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
The Poland syndrome-clinical and genealogical data, dermatoglyphic analysis, and incidence. Hum Hered (1973) 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
Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): report of 11 cases. Am J Med Genet (1987) 1.20
The trisomy 4p syndrome: case report and review. Am J Med Genet (1977) 1.20
Mycoplasma infection in the immunosuppressed leukemic patient. Arch Pathol Lab Med (1980) 1.19
Dubowitz syndrome: review of 141 cases including 36 previously unreported patients. Am J Med Genet (1996) 1.18
Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. Am J Med Genet (1988) 1.18
Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2. Nat Genet (1995) 1.17
Active repression of RAR signaling is required for head formation. Genes Dev (2001) 1.16
Regulation of HoxA expression in developing and regenerating axolotl limbs. Development (1995) 1.15
Trisomy C in an infant with polycystic kidneys and other malformations. J Pediatr (1970) 1.15
The Dubowitz syndrome. Z Kinderheilkd (1971) 1.14
A morphological and histochemical study of the primary and secondary immune responses in the rat spleen. Am J Anat (1967) 1.14
Multiple pterygium syndrome. Am J Med Genet (1980) 1.13
The pallister mosaic syndrome. Birth Defects Orig Artic Ser (1977) 1.12
Heterogeneity of Chondrodysplasia punctata. Humangenetik (1971) 1.12
Studies of malformation syndromes of man XXXXI B: nosologic studies in the Hanhart and the Möbius syndrome. Eur J Pediatr (1976) 1.12
Errors of morphogenesis and developmental field theory. Am J Med Genet (1998) 1.12
Sequence determination of the (+) leader RNA regions of the vesicular stomatitis virus Chandipura, Cocal, and Piry serotype genomes. J Virol (1983) 1.11
The MIller-Dieker syndrome. Pediatrics (1980) 1.11