Published in Clin Obstet Gynecol on December 01, 1986
Preconception clinical genetics. Can Fam Physician (1988) 0.82
Paternal pericentric inversion of chromosome 4 as a cause of recurrent pregnancy loss. J Med Genet (1994) 0.79
Association of heteromorphism of chromosome 9 and recurrent abortion (ultrasound diagnosed blighted ovum): A case report. Iran J Reprod Med (2014) 0.76
Medical genetics: 3. An approach to the adult with a genetic disorder. CMAJ (2002) 0.75
Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet (1989) 3.74
Microsatellite instability in colorectal cancer: different mutator phenotypes and the principal involvement of hMLH1. Cancer Res (1998) 3.36
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science (1998) 3.22
Prevalence and etiology of idiopathic dilated cardiomyopathy (summary of a National Heart, Lung, and Blood Institute workshop. Am J Cardiol (1992) 3.03
The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. Am J Hum Genet (2001) 2.68
FIP1L1-PDGFRA in eosinophilic disorders: prevalence in routine clinical practice, long-term experience with imatinib therapy, and a critical review of the literature. Leuk Res (2006) 2.41
Chromosome abnormalities clustering and its implications for pathogenesis and prognosis in myeloma. Leukemia (2003) 2.28
Analysis of clonal B-cell CD38 and immunoglobulin variable region sequence status in relation to clinical outcome for B-chronic lymphocytic leukaemia. Br J Haematol (2001) 2.10
Complex segregation analysis of nonsyndromic cleft lip and palate. Am J Hum Genet (1991) 2.01
Cleft lip and palate: no evidence of linkage to transforming growth factor alpha. Am J Hum Genet (1991) 1.94
Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy. J Mol Cell Cardiol (2001) 1.92
True T-cell chronic lymphocytic leukemia: a morphologic and immunophenotypic study of 25 cases. Blood (1995) 1.81
Cytogenetic analysis of six renal oncocytomas and a chromophobe cell renal carcinoma. Evidence that -Y, -1 may be a characteristic anomaly in renal oncocytomas. Cancer Genet Cytogenet (1992) 1.73
Familial aneurysmal subarachnoid hemorrhage: a community-based study. J Neurosurg (1995) 1.68
The clinical significance of cytogenetic studies in 100 patients with multiple myeloma, plasma cell leukemia, or amyloidosis. Blood (1985) 1.67
Dual color fluorescence in situ hybridization to investigate aneuploidy in sperm from 33 normal males and a man with a t(2;4;8)(q23;q27;p21) Fertil Steril (1994) 1.54
Autosomal dominant granulomatous arthritis, uveitis, skin rash, and synovial cysts. J Pediatr (1990) 1.53
Neurovascular manifestations of heritable connective tissue disorders. A review. Stroke (1994) 1.49
WHO-defined chronic neutrophilic leukemia: a long-term analysis of 12 cases and a critical review of the literature. Leukemia (2005) 1.44
Abnormal function of the bone marrow microenvironment in chronic myelogenous leukemia: role of malignant stromal macrophages. Blood (1995) 1.41
Diagnostic utility of fluorescence in situ hybridization in mantle-cell lymphoma. Br J Haematol (2000) 1.38
A novel three-color, clone-specific fluorescence in situ hybridization procedure for monoclonal gammopathies. Cancer Genet Cytogenet (1998) 1.34
B-CLL cells are capable of synthesis and secretion of both pro- and anti-angiogenic molecules. Leukemia (2002) 1.32
The genomic organization of human dystrobrevin. Neurogenetics (1997) 1.29
Genetic determination of plasma apolipoprotein AI in a population-based sample. Am J Hum Genet (1989) 1.29
Distribution of sodium-lithium countertransport and blood pressure in Caucasians five to eighty-nine years of age. Hypertension (1989) 1.28
Neutropenia and impaired neutrophil migration in type IB glycogen storage disease. J Pediatr (1980) 1.27
Physical mapping of a translocation breakpoint in neurofibromatosis. Science (1989) 1.27
Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay. Hum Genet (2000) 1.20
Cytogenetic findings and their clinical relevance in myelofibrosis with myeloid metaplasia. Br J Haematol (2001) 1.17
Chronic neutrophilic leukemia (CNL): a clinical, pathologic and cytogenetic study. Leukemia (2001) 1.17
Interphase fluorescence in situ hybridization with an IGH probe is important in the evaluation of patients with a clinical diagnosis of chronic lymphocytic leukaemia. Br J Haematol (2005) 1.16
Risk of hepatoblastoma in familial adenomatous polyposis. Am J Med Genet (1992) 1.15
Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts. Hum Genet (1999) 1.13
Acute myeloid leukemia with minimal differentiation. A multiple parameter study. Am J Clin Pathol (1998) 1.13
Familial paragangliomas of the head and neck. Arch Otolaryngol Head Neck Surg (1994) 1.12
Chromosomal abnormalities identify high-risk and low-risk patients with acute lymphoblastic leukemia. Blood (1986) 1.12
A tdic(5;15)(p31;p11) chromosome showing variation for constriction in the centromeric regions in a patient with the cri du chat syndrome. Cytogenet Cell Genet (1979) 1.12
The efficacy of direct, 24-hour culture, and mitotic synchronization methods for cytogenetic analysis of bone marrow in neoplastic hematologic disorders. Cancer Genet Cytogenet (1985) 1.12
Chromosomally abnormal clones and nonrandom telomeric translocations in cardiac myxomas. Mayo Clin Proc (1987) 1.11
A cytogenetic study of 53 human gliomas. Cancer Genet Cytogenet (1989) 1.11
The (11;14)(q13;q32) translocation in multiple myeloma. A morphologic and immunohistochemical study. Am J Clin Pathol (2000) 1.10
A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis. Hum Mol Genet (1995) 1.10
Frequent occurrence of cytogenetic abnormalities in sporadic nonmedullary thyroid carcinoma. Cancer (1990) 1.09
Variable expression in ankyloblepharon-ectodermal defects-cleft lip and palate syndrome. Am J Med Genet (1987) 1.09
Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology. Clin Genet (2008) 1.08
A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred. Am J Med Genet (1996) 1.07
Cytogenetic abnormalities correlate with the plasma cell labeling index and extent of bone marrow involvement in myeloma. Cancer Genet Cytogenet (1999) 1.05
Cardiac involvement in glycogen storage disease III: morphologic and biochemical characterization with endomyocardial biopsy. Am J Cardiol (1984) 1.05
Deletions of chromosome 13 in multiple myeloma identified by interphase FISH usually denote large deletions of the q arm or monosomy. Leukemia (2001) 1.04
Familial aggregation of idiopathic dilated cardiomyopathy. Am J Cardiol (1985) 1.03
A clefting syndrome with ocular anterior chamber defect and lid anomalies. J Pediatr (1978) 1.03
Childhood-onset schizophrenia associated with parkinsonism in a patient with a microdeletion of chromosome 22. Mayo Clin Proc (1998) 1.02
Cytogenetic studies in 174 consecutive patients with preleukemic or myelodysplastic syndromes. Mayo Clin Proc (1985) 1.02
Familial paragangliomas: linkage to chromosome 11q23 and clinical implications. Am J Med Genet (1997) 1.02
Heritable connective tissue disorders in cervical artery dissections: a prospective study. Neurology (1998) 1.01
Chromosome translocations in couples with multiple spontaneous abortions. Am J Hum Genet (1982) 1.01
Chromosome studies in 104 patients with polycythemia vera. Mayo Clin Proc (1991) 1.00
Characteristics of two cases with dup(15)(q11.2-q12): one of maternal and one of paternal origin. Genet Med (2001) 1.00
Autosomal dominant supravalvular aortic stenosis: large three-generation family. Am J Med Genet (1989) 0.99
Deficiency of chromosome 8p21.1----8pter: case report and review of the literature. Am J Med Genet (1985) 0.98
Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion. Am J Med Genet (1998) 0.98
Arginase deficiency in multiple tissues in argininemia. Clin Genet (1978) 0.98
Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7. Hum Mol Genet (1993) 0.97
The 5q- syndrome: a single-institution study of 43 consecutive patients. Blood (1993) 0.97
Hematologic disorders associated with deletions of chromosome 20q: a clinicopathologic study of 107 patients. Am J Clin Pathol (1996) 0.95
The autoimmune basis of dilated cardiomyopathy. Ann Med (1995) 0.95
Familial association of intracranial aneurysms and cervical artery dissections. Stroke (1991) 0.95
Spectrum of findings in a family with nonsyndromic autosomal dominant supravalvular aortic stenosis: a Doppler echocardiographic study. J Am Coll Cardiol (1989) 0.94
Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. Am J Med Genet (2001) 0.94
Hematologic manifestations associated with deletions of the long arm of chromosome 20. Cancer Genet Cytogenet (1984) 0.94
Familial dilated cardiomyopathy. Am J Med Genet (1988) 0.94
Velo-cardio-facial syndrome associated with ventricular septal defect, pulmonary atresia, and hypoplastic pulmonary arteries. Pediatrics (1992) 0.93
Brief report: a familial syndrome of arterial dissections with lentiginosis. N Engl J Med (1995) 0.93
Secondary myelodysplastic syndrome and acute myelogenous leukemia are significant complications following autologous stem cell transplantation for lymphoma. Bone Marrow Transplant (2003) 0.93
Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome. J Pediatr (1999) 0.93
Levels of lipids, lipoproteins, and apolipoproteins in a defined population. Mayo Clin Proc (1991) 0.93
Rothmund-Thomson syndrome in siblings: evidence for acquired in vivo mosaicism. Clin Genet (1996) 0.92
Occurrence of congenital heart defects in siblings of patients with univentricular heart and tricuspid atresia. Am J Cardiol (1989) 0.92
Clinical characteristics and prognosis of 50 patients with a myeloproliferative syndrome and deletion of part of the long arm of chromosome 5. Blood (1985) 0.91
Isolated isochromosome 17q: a distinct type of mixed myeloproliferative disorder/myelodysplastic syndrome with an aggressive clinical course. Br J Haematol (1999) 0.91
On the inheritance of intracranial aneurysms. Stroke (1994) 0.91
The clinical significance of karyotype in acute myelogenous leukemia. Cancer Genet Cytogenet (1989) 0.90
DNA fluorescent probes for diagnosis of velocardiofacial and related syndromes. Mayo Clin Proc (1995) 0.90
Chromosomal abnormalities in systemic amyloidosis. Br J Haematol (1998) 0.90
Long-term survival of patients with acute myeloid leukemia: a third follow-up of the Fourth International Workshop on Chromosomes in Leukemia. Cancer (1997) 0.89
Intracranial aneurysms in Marfan's syndrome: an autopsy study. Neurosurgery (1997) 0.89
von Hippel-Lindau disease. Mayo Clin Proc (2000) 0.89
A special fluorescent in situ hybridization technique to study peripheral blood and assess the effectiveness of interferon therapy in chronic myeloid leukemia. Blood (1998) 0.89
A familial syndrome with cutaneous malignant melanoma and cerebral astrocytoma. Neurology (1993) 0.89
Normal cytogenetic values for bone marrow based on studies of bone marrow transplant donors. Cancer Genet Cytogenet (1991) 0.88
Familial recurrence of tracheoesophageal fistula and associated malformations. Am J Med Genet (1996) 0.88
Form of 15q proximal duplication appears to be a normal euchromatic variant. Am J Med Genet (1994) 0.88
Agnogenic myeloid metaplasia associated with Klinefelter syndrome: a case report. Ann Hematol (2002) 0.87
Inherited interstitial deletion of chromosomes 5p and 16q without apparent phenotypic effect: further confirmation. Prenat Diagn (2000) 0.87
A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family. Pediatr Res (1998) 0.87