Published in Ann Genet on March 01, 1975
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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet (2008) 2.09
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Intraductal mucin-producing tumors of the pancreas: imaging findings. Radiology (1996) 1.70
Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. Am J Hum Genet (1995) 1.67
Circulating levels of allopregnanolone in humans: gender, age, and endocrine influences. J Clin Endocrinol Metab (1998) 1.63
Cystic dystrophy of the duodenal wall: radiologic findings. Radiology (1997) 1.62
Trisomy 16q21 = to qter. Hum Genet (1980) 1.59
Retroperitoneal paragangliomas: role of immunohistochemistry in the diagnosis of malignancy and in assessment of prognosis. Eur J Surg (1994) 1.58
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Growth hormone treatment in osteogenesis imperfecta with quantitative defect of type I collagen synthesis. J Pediatr (1996) 1.56
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The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications. Am J Hum Genet (1996) 1.53
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Evidence of c-myc gene abnormalities in mediastinal large B-cell lymphoma of young adult age. Blood (1991) 1.52
Carcinomalike monotypic epithelioid angiomyolipoma in patients without evidence of tuberous sclerosis: a clinicopathologic and genetic study. Am J Surg Pathol (1998) 1.52
Detection of new polymorphic markers in the factor V gene: association with factor V levels in plasma. Thromb Haemost (1996) 1.51
A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Am J Hum Genet (1998) 1.50
The unbalanced offspring of the male carriers of the 11q;22q translocation: nondisjunction at meiosis II in a balanced spermatocyte. Hum Genet (1992) 1.50
The immunohistochemical mucin expression pattern distinguishes different types of intraductal papillary mucinous neoplasms of the pancreas and determines their relationship to mucinous noncystic carcinoma and ductal adenocarcinoma. Am J Surg Pathol (2001) 1.48
Breast carcinoma with positive results for melanoma marker (HMB-45). HMB-45 immunoreactivity in normal and neoplastic breast. Am J Clin Pathol (1989) 1.47
Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations. J Med Genet (2001) 1.46
Renal angiomyolipoma with epithelioid sarcomatous transformation and metastases: demonstration of the same genetic defects in the primary and metastatic lesions. Am J Surg Pathol (2000) 1.44
Gastric carcinoids and their precursor lesions. A histologic and immunohistochemical study of 23 cases. Cancer (1991) 1.42
Activated protein C resistance: a comparison between two clotting assays and their relationship to the presence of the factor V Leiden mutation. Br J Haematol (1996) 1.39
Improved cytogenetics in multiple myeloma: a study of 151 patients including 117 patients at diagnosis. Blood (1995) 1.39
Transmission of a fully functional human neocentromere through three generations. Am J Hum Genet (1999) 1.38
Melanocyte-marker-HMB-45 is regularly expressed in angiomyolipoma of the kidney. Pathology (1991) 1.38
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Trisomy 8 in Philadelphia chromosome (Ph1)-negative cells in the course of Ph1-positive chronic myelocytic leukemia. Genes Chromosomes Cancer (1992) 1.37
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Two TaqI RFLPs in the human von Willebrand factor gene. Nucleic Acids Res (1987) 1.33
Chromosome 7q allelic losses in pancreatic carcinoma. Cancer Res (1996) 1.33
Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects. Circulation (2000) 1.32
Potyviral HC-Pro: a multifunctional protein. J Gen Virol (1996) 1.26
Derangements of immunoglobulin levels, phytohemagglutinin responsiveness and T and B cell markers in Down's syndrome at different ages. Eur J Immunol (1975) 1.24
The mouse Mid1 gene: implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region. Hum Mol Genet (1998) 1.24
Women heterozygous for deficiency of the (p21 leads to pter) region of the X chromosome are fertile. Hum Genet (1977) 1.24
A new chromosome instability disorder. Clin Genet (1986) 1.23
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation. J Med Genet (2007) 1.23
Complete sequence of an IS element present in pSC101. Nucleic Acids Res (1981) 1.22
PvuII RFLP inside the human estrogen receptor gene. Nucleic Acids Res (1987) 1.22
Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome. J Med Genet (1988) 1.22
High resolution allelotype of nonfunctional pancreatic endocrine tumors: identification of two molecular subgroups with clinical implications. Cancer Res (2001) 1.20
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. J Med Genet (2008) 1.20
Thyroid abnormalities during lithium treatment. Acta Psychiatr Scand (1991) 1.18
Perivascular epithelioid cell. Am J Surg Pathol (1996) 1.18
Neonatal screening for congenital adrenal hyperplasia. Arch Dis Child (1983) 1.17
Serum allopregnanolone levels in pregnant women: changes during pregnancy, at delivery, and in hypertensive patients. J Clin Endocrinol Metab (2000) 1.16
Mapping of a human centromere onto the DNA by topoisomerase II cleavage. EMBO Rep (2000) 1.15
Parvalbumin is constantly expressed in chromophobe renal carcinoma. Mod Pathol (2001) 1.15
The FHIT gene is expressed in pancreatic ductular cells and is altered in pancreatic cancers. Cancer Res (1999) 1.15
Ultrasonography of the pancreas. 4. Contrast-enhanced imaging. Abdom Imaging (2007) 1.15
Clear cell tumor and angiomyolipoma. Am J Surg Pathol (1991) 1.14
Peripheral giant cell granuloma: evidence for osteoclastic differentiation. Oral Surg Oral Med Oral Pathol (1990) 1.14
A deletion map of the human Yq11 region: implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis. Genomics (1991) 1.12
The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome. Leukemia (2009) 1.12
Neoplasia of the ampulla of Vater. Ki-ras and p53 mutations. Am J Pathol (1993) 1.12
A new submicroscopic deletion that refines the 9p region for sex reversal. Genomics (2000) 1.12
Allelotype of pancreatic acinar cell carcinoma. Int J Cancer (2000) 1.11
Paraduodenal pancreatitis: a clinico-pathologically distinct entity unifying "cystic dystrophy of heterotopic pancreas", "para-duodenal wall cyst", and "groove pancreatitis". Semin Diagn Pathol (2004) 1.11
Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains. Genomics (1998) 1.11
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome. Clin Genet (2011) 1.10
Order of six loci at 2q24-q31 and orientation of the HOXD locus. Genomics (1994) 1.10
Gastritis cystica polyposa: a possible precancerous lesion. Tumori (1985) 1.09
Refining the phenotype associated with MEF2C haploinsufficiency. Clin Genet (2010) 1.09
Preferential maternal derivation in inv dup(15): analysis of eight new cases. Hum Genet (1981) 1.08
Successful xenografting of cryopreserved primary pancreatic cancers. Virchows Arch (2001) 1.07
Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome. Am J Hum Genet (1997) 1.07
Hyperplastic (metaplastic) polyps of the colon. A histologic and histochemical study. Am J Surg Pathol (1984) 1.07
Alcohol, smoking and papillomavirus infection as risk factors for esophageal squamous-cell papilloma and esophageal squamous-cell carcinoma in Italy. Int J Cancer (2000) 1.06