Published in N Engl J Med on March 09, 1972
Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). Proc Natl Acad Sci U S A (1991) 2.24
Morphologic studies in the skeletal dysplasias. Am J Pathol (1979) 1.29
Stickler's syndrome. J Med Genet (1989) 1.28
A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon. Am J Hum Genet (1993) 1.06
Inherited hyaloideoretinopathy and skeletal dysplasia. Trans Am Ophthalmol Soc (1975) 0.98
The Wagner syndrome versus hereditary arthroophthalmopathy. Trans Am Ophthalmol Soc (1982) 0.96
Osteochondritis dissecans and Osgood Schlatter disease in a family with Stickler syndrome. Pediatr Rheumatol Online J (2009) 0.88
The Stickler syndrome presenting as a dominantly inherited cleft palate and blindness. J Med Genet (1975) 0.81
PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome. J Med Genet (1996) 0.80
Molecular heterogeneity: a clinical dilemma. Clinical heterogeneity: a molecular dilemma. Am J Hum Genet (1993) 0.80
The Robin anomalad (Pierre Robin syndrome)--a follow up study. Arch Dis Child (1981) 0.78
Stickler's syndrome and neovascular glaucoma. Br J Ophthalmol (1979) 0.75
The Third Intergroup Rhabdomyosarcoma Study. J Clin Oncol (1995) 5.36
Structural basis for binding of Smac/DIABLO to the XIAP BIR3 domain. Nature (2001) 3.22
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
The Intergroup Rhabdomyosarcoma Study-II. Cancer (1993) 2.77
International system for human gene nomenclature (1979) ISGN (1979). Cytogenet Cell Genet (1979) 2.58
Outbreak of Klebsiella pneumoniae producing transferable AmpC-type beta-lactamase (ACC-1) originating from Hafnia alvei. FEMS Microbiol Lett (2000) 2.57
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
Multimodal therapy for the management of nonpelvic, localized Ewing's sarcoma of bone: intergroup study IESS-II. J Clin Oncol (1990) 2.48
Nonsurgical retrieval of embolized coronary stents. Catheter Cardiovasc Interv (2000) 2.48
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
Errors of morphogenesis: concepts and terms. Recommendations of an international working group. J Pediatr (1982) 2.04
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
NMR structure and mutagenesis of the third Bir domain of the inhibitor of apoptosis protein XIAP. J Biol Chem (2000) 1.88
Magnetic resonance imaging volumes of the hippocampus and the amygdala in women with borderline personality disorder and early traumatization. Arch Gen Psychiatry (2000) 1.88
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
Oxa1p mediates the export of the N- and C-termini of pCoxII from the mitochondrial matrix to the intermembrane space. FEBS Lett (1997) 1.62
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
Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy. Am J Hum Genet (1992) 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
Application of laser spectroscopy for measurement of exhaled ethane in patients with lung cancer. Respir Med (2005) 1.48
Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan. Z Kinderheilkd (1974) 1.48
Age differences in behaviors leading to completed suicide. Am J Geriatr Psychiatry (1998) 1.47
Associations and syndromes: terminology in clinical genetics and birth defects epidemiology: comments on Khoury, Moore, and Evans. Am J Med Genet (1994) 1.46
Potential embolization by atherosclerotic debris dislodged from aortic wall during cardiac catheterization:: histological and clinical findings in 7,621 patients. Catheter Cardiovasc Interv (2000) 1.45
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
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
Ectopia cordis and cleft sternum: evidence for mechanical teratogenesis following rupture of the chorion or yolk sac. Am J Med Genet (1985) 1.40
The genetic mucolipidoses. Diagnosis and differential diagnosis. Humangenetik (1970) 1.39
Autosomal recessive severe dwarfism in a Sicilian girl: a new form of osteodysplastic primordial dwarfism? Am J Med Genet (1996) 1.39
Early clinical experience with the implantation of a novel synthetic coronary stent graft. Catheter Cardiovasc Interv (1999) 1.38
Soluble lactose-binding lectin from rat intestine with two different carbohydrate-binding domains in the same peptide chain. J Biol Chem (1993) 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
The Genetics of Angiokeratoma Corporis Diffusum (Fabry's Disease) and Its Linkage Relations with the Xg Locus. Am J Hum Genet (1965) 1.31
Symphalangism and brachydactyly syndrome: report of the WL symphalangism-brachydactyly syndrome: review of literature and classification. Birth Defects Orig Artic Ser (1974) 1.30
Thanatophoric dwarfism. A condition confused with achondroplasia in the neonate, with brief comments on achondrogenesis and homozygous achondroplasia. Radiology (1969) 1.29
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
Lethal forms of chondrodysplastic dwarfism. Pediatrics (1974) 1.26
The Stickler syndrome (hereditary arthroophthalmopathy). Birth Defects Orig Artic Ser (1975) 1.26
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
Campomelic dysplasia. Further elucidation of a distinct entity. Am J Dis Child (1980) 1.20
The trisomy 4p syndrome: case report and review. Am J Med Genet (1977) 1.20
Dubowitz syndrome: review of 141 cases including 36 previously unreported patients. Am J Med Genet (1996) 1.18
High-resolution optical coherence tomography-guided laser ablation of surgical tissue. J Surg Res (1999) 1.18
Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. Am J Med Genet (1988) 1.18
MicroRNA expression profiles of trophoblastic cells. Placenta (2012) 1.18
Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2. Nat Genet (1995) 1.17
Glycerophosphoryl diglucosyl diglyceride, a new phosphoglycolipid from Streptococci. Biochim Biophys Acta (1973) 1.17
Plaque distribution and vascular remodeling of ruptured and nonruptured coronary plaques in the same vessel: an intravascular ultrasound study in vivo. J Am Coll Cardiol (2001) 1.16
The Dubowitz syndrome. Z Kinderheilkd (1971) 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
The MIller-Dieker syndrome. Pediatrics (1980) 1.11
Neurologic and psychometric findings in the Brachmann-De Lange syndrome. Neuropadiatrie (1971) 1.10
Familial congenital bowing with short bones. Radiology (1979) 1.10
The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness. Am J Med Genet (1979) 1.10
Spondyloepiphyseal dysplasia congenita. Radiology (1970) 1.09
The benign proximal spinal progressive muscular atrophies. Acta Neurol Scand (1968) 1.09
Vaginal atresia (von Mayer-Rokitansky-Küster or MRK anomaly) in hereditary renal adysplasia (HRA). Am J Med Genet (1987) 1.09
Naming and nomenclature of syndromes. Birth Defects Orig Artic Ser (1974) 1.09