Syndromal foramina parietalia permagna: "new" or FG syndrome? Comments on the paper by Chrzanowska et al [1998].

PubWeight™: 1.40‹?› | Rank: Top 5%

🔗 View Article (PMID 9714004)

Published in Am J Med Genet on August 06, 1998

Authors

A Rauch, J M Opitz, D Walker

Articles citing this

Reluctance to accept FG syndrome diagnosis. Am J Med Genet (1999) 0.75

Articles cited by this

Syndromic foramina parietalia permagna. Am J Med Genet (1998) 1.96

Articles by these authors

(truncated to the top 100)

Inflammation and Alzheimer's disease. Neurobiol Aging (2000) 12.56

Ischaemic preconditioning. BMJ (1994) 10.92

The genome of the social amoeba Dictyostelium discoideum. Nature (2005) 9.18

Species realities and numbers in sexual vertebrates: perspectives from an asexually transmitted genome. Proc Natl Acad Sci U S A (1999) 6.49

The glucocorticoid receptor: rapid exchange with regulatory sites in living cells. Science (2000) 6.17

Purification and cloning of amyloid precursor protein beta-secretase from human brain. Nature (1999) 5.77

Genome sequence of the enterobacterial phytopathogen Erwinia carotovora subsp. atroseptica and characterization of virulence factors. Proc Natl Acad Sci U S A (2004) 4.87

The purification and properties of sucrose-phosphate synthetase from spinach leaves: the involvement of this enzyme and fructose bisphosphatase in the regulation of sucrose biosynthesis. Arch Biochem Biophys (1981) 4.29

Pleistocene phylogeographic effects on avian populations and the speciation process. Proc Biol Sci (1998) 4.26

Speciation durations and Pleistocene effects on vertebrate phylogeography. Proc Biol Sci (1998) 3.66

BSR & BHPR, BOA, RCGP and BSAC guidelines for management of the hot swollen joint in adults. Rheumatology (Oxford) (2006) 3.22

Severe end of Opitz trigonocephaly (C) syndrome or new syndrome? Am J Med Genet (1999) 3.11

Phenylbutazone and isoniazid metabolism in patients with liver disease in relation to previous drug therapy. Lancet (1968) 3.10

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

The genome of the simian and human malaria parasite Plasmodium knowlesi. Nature (2008) 3.02

Antibiotic resistance among clinical isolates of Haemophilus influenzae in the United States in 1994 and 1995 and detection of beta-lactamase-positive strains resistant to amoxicillin-clavulanate: results of a national multicenter surveillance study. Antimicrob Agents Chemother (1997) 2.91

BioSense: implementation of a National Early Event Detection and Situational Awareness System. MMWR Morb Mortal Wkly Rep (2005) 2.90

The detection of linkage disequilibrium between closely linked markers: RFLPs at the AI-CIII apolipoprotein genes. Am J Hum Genet (1988) 2.85

Direct binding of G-protein betagamma complex to voltage-dependent calcium channels. Nature (1997) 2.60

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

Large-scale chromatin decondensation and recondensation regulated by transcription from a natural promoter. J Cell Biol (2001) 2.43

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

Studies with an enthesis index as a method of clinical assessment in ankylosing spondylitis. Ann Rheum Dis (1987) 2.29

Observations on the phosphate status and intracellular pH of intact cells, protoplasts and chloroplasts from photosynthetic tissue using phosphorus-31 nuclear magnetic resonance. Biochem J (1982) 2.24

Better substrates for bacterial transglycosylases. J Am Chem Soc (2001) 2.22

Molecular changes in the polymerase genes (PA and PB1) associated with high pathogenicity of H5N1 influenza virus in mallard ducks. J Virol (2007) 2.20

Measles, mumps, and rubella: the need for a change in immunisation policy. Br Med J (Clin Res Ed) (1986) 2.17

Structure and function of Parkin E3 ubiquitin ligase reveals aspects of RING and HECT ligases. Nat Commun (2013) 2.10

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet (2008) 2.09

Detection of two viral genomes in single cells by double-label hybridization in situ and color microradioautography. Science (1985) 2.09

Human Fertility and Embryology Act 1990 discriminates against children. Children must not be denied future choice of using their gametes. BMJ (1998) 2.08

Type B lactic acidosis following cardiopulmonary bypass. Crit Care Med (1997) 2.05

Errors of morphogenesis: concepts and terms. Recommendations of an international working group. J Pediatr (1982) 2.04

The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture. Hum Genet (1981) 2.04

Clonal relationships among high-level penicillin-resistant Streptococcus pneumoniae in the United States. Clin Infect Dis (1998) 1.96

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

The 1.9 A crystal structure of Escherichia coli MurG, a membrane-associated glycosyltransferase involved in peptidoglycan biosynthesis. Protein Sci (2000) 1.90

A double-blind, randomized comparison of the efficacy and safety of intramuscular injections of olanzapine, lorazepam, or placebo in treating acutely agitated patients diagnosed with bipolar mania. J Clin Psychopharmacol (2001) 1.86

Measurement of the ascorbate content of spinach leaf protoplasts and chloroplasts during illumination. Planta (1983) 1.85

Biologic therapy in clinical practice: enthusiasm must be tempered by caution. Rheumatology (Oxford) (2003) 1.79

The DiGeorge anomaly as a developmental field defect. Am J Med Genet Suppl (1986) 1.77

Efficacy of silver diamine fluoride for Arresting Caries Treatment. J Dent Res (2009) 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

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. J Med Genet (2009) 1.74

New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome. Am J Med Genet (1986) 1.71

STP position paper: best practice guideline for the routine pathology evaluation of the immune system. Toxicol Pathol (2005) 1.67

Genetic evidence for extreme polyandry and extraordinary sex-role reversal in a pipefish. Proc Biol Sci (2001) 1.66

Structure and function of the Bacillus SpoIIE protein and its localization to sites of sporulation septum assembly. Mol Microbiol (1996) 1.64

Sural nerve pathology in diabetic patients with minimal but progressive neuropathy. Diabetologia (2005) 1.64

Surveillance of symptoms following MMR vaccine in children. Practitioner (1989) 1.63

Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2. J Med Genet (2005) 1.62

The plasmin system is induced by and degrades amyloid-beta aggregates. J Neurosci (2000) 1.62

A human PKD1 transgene generates functional polycystin-1 in mice and is associated with a cystic phenotype. Hum Mol Genet (2000) 1.58

Inflammation and Alzheimer's disease pathogenesis. Neurobiol Aging (1997) 1.56

Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism. Clin Genet (1975) 1.56

Concerning a dual function of coupled cyclic electron transport in leaves. Plant Physiol (1992) 1.56

A controlled comparison of two treatments for nocturnal enuresis. J Pediatr (1982) 1.54

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

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

Asymmetric replication of hepatitis B virus DNA in human liver: demonstration of cytoplasmic minus-strand DNA by blot analyses and in situ hybridization. Virology (1984) 1.48

Associations and syndromes: terminology in clinical genetics and birth defects epidemiology: comments on Khoury, Moore, and Evans. Am J Med Genet (1994) 1.46

Perception of sweet taste is important for voluntary alcohol consumption in mice. Genes Brain Behav (2007) 1.46

Fertility preservation for children treated for cancer (1): scientific advances and research dilemmas. Arch Dis Child (2001) 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

Intrauterine insemination: evaluation of the results according to the woman's age, sperm quality, total sperm count per insemination and life table analysis. Hum Reprod (1996) 1.43

Fibular a/hypoplasia: review and documentation of the fibular developmental field. Am J Med Genet Suppl (1986) 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

Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy. J Med Genet (2003) 1.41

Trisomy 2p syndrome: a fetus with anencephaly and postaxial polydactyly. Am J Med Genet (1999) 1.41

Elastin: mutational spectrum in supravalvular aortic stenosis. Eur J Hum Genet (2000) 1.40

Direct visualization of the human estrogen receptor alpha reveals a role for ligand in the nuclear distribution of the receptor. Mol Biol Cell (1999) 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

Prevalence of antimicrobial resistance among 723 outpatient clinical isolates of Moraxella catarrhalis in the United States in 1994 and 1995: results of a 30-center national surveillance study. Antimicrob Agents Chemother (1996) 1.39

Primary care guidelines in rheumatology. Rheumatology (Oxford) (2006) 1.39

Linking research activities with policy and program design. Can J Public Health (1992) 1.39

Autosomal recessive severe dwarfism in a Sicilian girl: a new form of osteodysplastic primordial dwarfism? Am J Med Genet (1996) 1.39

Dictation in the presence of the patient. Arch Fam Med (1998) 1.39

Emergence of Acquired HIV-1 Drug Resistance Almost Stopped in Switzerland: A 15-Year Prospective Cohort Analysis. Clin Infect Dis (2016) 1.39

Intrathecal sufentanil for labor analgesia does not cause a sympathectomy. Anesthesiology (1997) 1.38

Comparisons of ribosomal internal transcribed spacers from two congeneric species of flukes (Platyhelminthes: Trematoda: Digenea). Mol Biochem Parasitol (1992) 1.37

Management of septic arthritis: a systematic review. Ann Rheum Dis (2007) 1.37

Mechanism and cleavage specificity of the H-N-H endonuclease colicin E9. J Mol Biol (2001) 1.36

The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies. Birth Defects Orig Artic Ser (1975) 1.36

Immunity proteins: enzyme inhibitors that avoid the active site. Trends Biochem Sci (2001) 1.35

Rickettsia honei sp. nov., the aetiological agent of Flinders Island spotted fever in Australia. Int J Syst Bacteriol (1998) 1.31

The Genetics of Angiokeratoma Corporis Diffusum (Fabry's Disease) and Its Linkage Relations with the Xg Locus. Am J Hum Genet (1965) 1.31

Abnormalities of neutrophil function do not cause the migration defect in Crohn's disease. Gut (1981) 1.31

2,3-dichloro-5,6-dicyanobenzoquinone and its reactions. Chem Rev (1967) 1.30