Published in Am J Med Genet on May 03, 1996
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet (2004) 1.45
Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders. Eur J Hum Genet (2011) 0.89
Case report of prenatal diagnosis of Stüve-Wiedemann Syndrome in a woman with another child affected too. J Prenat Med (2013) 0.83
Congenital contractures and distinctive phenotypic features consistent with Stuve-Wiedmann syndrome in a male infant. Cases J (2008) 0.75
Risk of congenital anomalies near hazardous-waste landfill sites in Europe: the EUROHAZCON study. Lancet (1998) 5.08
Neurofibromatosis type 1 growth charts. Am J Med Genet (1999) 2.32
Intrauterine dwarfism, peculiar facies and thin bones with multiple fractures--a new syndrome. Pediatr Radiol (1988) 2.03
Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide. J Med Genet (2003) 2.03
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet (2001) 2.02
Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1. Am J Med Genet (2000) 1.70
Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations. J Med Genet (2001) 1.46
STK11 mutations in Peutz-Jeghers syndrome and sporadic colon cancer. Cancer Res (1998) 1.45
How wide is the clinical spectrum of the acrocallosal syndrome? Report of a mild case. J Med Genet (1990) 1.44
Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1. Am J Med Genet (1999) 1.40
Regional assignment of catalase (CAT) gene to band 11p13. Association with the aniridia-Wilms' tumor-Gonadoblastoma (WAGR) complex. Ann Genet (1980) 1.34
Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients. Hum Genet (1996) 1.31
Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2. J Med Genet (2004) 1.25
Familial congenital bicuspid aortic valve: a disorder of uncertain inheritance. Am J Med Genet (1996) 1.24
Clinical and genetic heterogeneity in Meckel syndrome. Hum Genet (1997) 1.24
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. Am J Med Genet (2000) 1.24
Chromosomal congenital anomalies and residence near hazardous waste landfill sites. Lancet (2002) 1.17
Omphalocele and gastroschisis: a collaborative study of five Italian congenital malformation registries. Teratology (1993) 1.11
NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes. Am J Hum Genet (2000) 1.09
Study on segregation and risk for abnormal offspring in carriers of pericentric inversion of the (p11 leads to q13) segment of chromosome 2. Clin Genet (1980) 1.07
Evaluation of the prenatal diagnosis of neural tube defects by fetal ultrasonographic examination in different centres across Europe. J Med Screen (2000) 1.03
Methimazole embryopathy: delineation of the phenotype. Am J Med Genet (1999) 1.03
A new case of trisomy for the short arm of No. 9 chromosome. J Med Genet (1973) 1.02
Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome. Am J Med Genet (1991) 1.01
Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping". Am J Med Genet (1998) 1.01
Paternal origin of LMNA mutations in Hutchinson-Gilford progeria. Clin Genet (2004) 0.98
Partial deletion of the short arm of chromosome 12(p11; p13). Report of a case. Ann Genet (1975) 0.97
An Italian family with autosomal dominant polycystic kidney disease unlinked to either the PKD1 or PKD2 gene. Am J Kidney Dis (1996) 0.96
CD4 and CD8 T lymphocyte inheritance. Evidence for major autosomal recessive genes. Hum Genet (1999) 0.95
Ring chromosome 21 in phenotypically apparently normal persons: report of two families from Switzerland and Italy. Am J Med Genet (1983) 0.94
[Familial translocation t(6; 18) (q16; q16; q23) with free 21 trisomy]. Ann Genet (1974) 0.93
Neurofibromatosis-1: a maximum likelihood estimation of mutation rate. Hum Genet (1990) 0.92
Anophthalmia and benomyl in Italy: a multicenter study based on 940,615 newborns. Reprod Toxicol (1995) 0.91
[Localization of the gene of the glyceraldehyde 3 phosphate dehydrogenase on the distal segment of the short arm of the chromosome 12]. Ann Genet (1976) 0.90
Methylmalonic acidemia and vitamin B12 dependency. Acta Paediatr Scand (1970) 0.90
Frequency of abnormal karyotypes in relation to the ascertainment method in females referred for suspected sex chromosome abnormality. Clin Genet (1984) 0.89
D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p). Hum Genet (1993) 0.89
A new type of spondylo-metaphyseal dysplasia--Algerian type. Report of five cases. Pediatr Radiol (1988) 0.89
An inheritable anomaly of red-cell oxalate transport in "primary" calcium nephrolithiasis correctable with diuretics. N Engl J Med (1986) 0.88
What is it? Intraosseous lipoma in a 13-year-old boy. Br J Radiol (1991) 0.87
Microcephalic, osteodysplastic, primordial dwarfism. Australas Radiol (1993) 0.87
Clinical application of genetic polymorphism in neurofibromatosis type 1. Ann Genet (1996) 0.86
Cardiovascular anomaly in Rieger Syndrome: heterogeneity or contiguity? Acta Ophthalmol Scand (1998) 0.86
Small patella syndrome. Am J Med Genet (1995) 0.86
Inheritance of astigmatism: evidence for a major autosomal dominant locus. Am J Hum Genet (1998) 0.86
Evaluation of prenatal diagnosis of cleft lip with or without cleft palate and cleft palate by ultrasound: experience from 20 European registries. EUROSCAN study group. Prenat Diagn (2000) 0.86
Inheritance of hyperbilirubinemia: evidence for a major autosomal recessive gene. Dig Liver Dis (2007) 0.85
Study on segregation of the inversion of chromosome 4 (p15.2q11) in two unrelated families. Hum Genet (1982) 0.85
Another Italian family with mandibuloacral dysplasia: why does it seem more frequent in Italy? Am J Med Genet (1986) 0.85
Congenital eye malformations: a descriptive epidemiologic study in about one million newborns in Italy. Birth Defects Orig Artic Ser (1996) 0.84
Dysspondyloenchondromatosis in the newborn. Report of four cases. Pediatr Radiol (1994) 0.84
Stress fracture of the fibula in the first decade of life. Report of eight cases. Pediatr Radiol (1991) 0.83
Clinical anophthalmia: an epidemiological study in northeast Italy based on 368,256 consecutive births. Teratology (1992) 0.83
Complex segregation analysis in a sample of consecutive newborns with cleft lip with or without cleft palate in Italy. Hum Hered (1995) 0.82
Pachyonychia congenita Jackson-Lawler type: a distinct malformation syndrome. Br J Dermatol (1986) 0.82
Partial duplication of 17 long arm. Ann Genet (1988) 0.82
Screening test for Y chromosome in newborn using urinary epithelial cells. Lancet (1971) 0.82
Blastogenesis dominant 1: a sequence with midline anomalies and heterotaxy. Am J Med Genet (1997) 0.82
Stress fractures of the fibula in the first few years of life (report of six cases). Australas Radiol (1996) 0.81
Headache in patients with neurofibromatosis type 1. Headache (1996) 0.81
Neonatal growth patterns in a population of consecutively born Down syndrome children. Am J Med Genet Suppl (1990) 0.81
Chorioretinal coloboma and Joubert syndrome: a nonrandom association. J Pediatr (1984) 0.80
Chorio-retinal dysplasia, microcephaly and mental retardation. An autosomal dominant syndrome. Clin Genet (1981) 0.80
Microphthalmia-congenital anterior polar cataract. An autosomal dominant syndrome. Ophthalmic Paediatr Genet (1985) 0.80
Primary sacral bone tumours in children (report of 16 cases with a short literature review). Australas Radiol (1990) 0.80
Rare primary cranial vault and base of the skull tumors in children. Report of 30 cases with a short literature review. Radiol Med (1991) 0.79
Clusters of anophthalmia. No link with benomyl in Italy... BMJ (1994) 0.79
Popliteal pterygium syndrome presenting with orofacial abnormalities. Report of a family. J Maxillofac Surg (1984) 0.79
Trisomy 4q32 leads to 4qter due to a maternal 4/21 translocation. J Med Genet (1975) 0.79
Cytogenetic findings in 4952 prenatal diagnoses. An Italian collaborative study. Hum Genet (1982) 0.79
Osteomesopycnosis. J Pediatr Orthop (1991) 0.79
Novel keratin 17 mutations in pachyonychia congenita type 2. J Invest Dermatol (2001) 0.78
Frequency of consanguineous marriages among parents and grandparents of Down patients. Hum Genet (1985) 0.78
Short stature, mental retardation, craniosynostosis, Klippel-Feil syndrome, Scheuerman kyphosis, rib gaps and other distinctive skeletal and genital anomalies. A new syndrome? Pediatr Radiol (1993) 0.78
Spondylometaphyseal dysplasia, Sutcliffe type: a rediscovered entity. Can Assoc Radiol J (1992) 0.78
Down syndrome and parity. Community Genet (1999) 0.78
Family with branchial arch anomalies, hearing loss, ear and commissural lip pits, and rib anomalies. A new autosomal recessive condition: branchio-oto-costal syndrome? Am J Med Genet (1997) 0.78
The familial adenomatous polyposis region exhibits many different haplotypes. Hum Genet (1998) 0.78
Multiple, symmetrical non-ossifying fibromata without extraskeletal anomalies: report of two related cases. Pediatr Radiol (1993) 0.78
Linkage analysis of neurofibromatosis type 1. Study of a homogeneous North Italian population with five DNA markers of chromosome 17. Hum Genet (1991) 0.77
Inheritance of cleft palate in Italy. Evidence for a major autosomal recessive locus. Hum Genet (1997) 0.77
Caudal regression syndrome and spondyloepiphyseal dysplasia in a 6-year-old child. A new syndrome? Pediatr Radiol (1990) 0.77
A new family with extra material on proximal 15q. Ann Genet (1989) 0.77
Fibroblast growth factor receptor mutational screening in newborns affected by metopic synostosis. Childs Nerv Syst (1999) 0.77
Ultrastructure of metachromatic fibroblasts. Am J Dis Child (1972) 0.77
Aortic elastin abnormalities in osteogenesis imperfecta type II. Coll Relat Res (1986) 0.77
Is visual field reduction a component manifestation of osteopathia striata with cranial sclerosis? Am J Med Genet (1993) 0.76
Metaphyseal dysplasia-Bellini type. Report of two cases. Radiol Med (1995) 0.76
A new disease-causing mutation in the GAP-related domain of the NF1 gene. Hum Mol Genet (1993) 0.76
Idiopathic carpo-tarsal osteolysis of early onset. Report of two cases. Radiol Med (1992) 0.75
Amniotic band sequence in child of thalidomide victim. BMJ (1994) 0.75
[Acid maltase in leukocytes and in cultivated skin cells in Pompe's disease]. Riv Anat Patol Oncol (1968) 0.75
47-48 mosaicism in newborn with trisomy D. Lancet (1968) 0.75
Acid phosphatase in spleen tissue-culture in Gaucher's disease. Lancet (1968) 0.75
[Effect of sucrose on skin cultures of a patient with mucopolysaccharidosis]. Riv Anat Patol Oncol (1968) 0.75
Glycogenosis type II: glycogen storage in cell cultures from muscle. Experientia (1969) 0.75
[Histochemical study on skin culture in type II glycogenosis]. Riv Anat Patol Oncol (1968) 0.75
[Changes in acid phosphatase activity induced by vitamin A in cultures of fibroblasts from a patient with mucopolysaccharidosis]. Boll Soc Ital Biol Sper (1968) 0.75
Malignant hypophosphathaemic bone disease. Eur J Radiol (2001) 0.75