Published in Am J Hum Genet on June 01, 1990
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A newly defined X linked mental retardation syndrome associated with alpha thalassaemia. J Med Genet (1991) 1.61
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Minireview: cryptic translocations and telomere integrity. Am J Hum Genet (1992) 1.09
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Review and hypotheses: somatic mosaicism: observations related to clinical genetics. Am J Hum Genet (1988) 3.05
Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome. Am J Hum Genet (1988) 2.97
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Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome. Am J Hum Genet (1988) 1.83
New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13. Hum Genet (1984) 1.78
Human alpha-globin maps to pter-p13.3 in chromosome 16 distal to PGP. Hum Genet (1987) 1.76
Mapping the short arm of human chromosome 16. Genomics (1989) 1.69
Identification of a locus which shows no genetic recombination with the autosomal dominant polycystic kidney disease gene on chromosome 16. Am J Hum Genet (1990) 1.52
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A new hypervariable marker for the human alpha-globin gene cluster. Am J Hum Genet (1988) 1.43
Improved early diagnosis of adult polycystic kidney disease with flanking DNA markers. Lancet (1987) 1.36
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A ring chromosome No. 16 in an infant with primary hypoparathyroidism. J Pediatr (1970) 0.95
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Alpha thalassaemia in two Spanish families. Eur J Haematol (1990) 0.86
Trisomy 20q due to maternal t(16;20) translocation. First case. Clin Genet (1979) 0.85
Developmental delay, short stature, and minor facial anomalies in a child with ring chromosome 16. Am J Med Genet (1988) 0.85
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Hemoglobin H disease and multiple congenital anomalies in a child of northern European origin. Am J Hematol (1982) 0.82
A chromosomal survey of an institution for the mentally retarded. Study of 476 karyotypes with banding techniques and clinical assessment of patients with chromosome anomalies. Dan Med Bull (1983) 0.82
Trisomy 4p due to a paternal t(4p-;16p+) translocation. Hum Genet (1976) 0.79
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Alpha-thalassaemia caused by a polyadenylation signal mutation. Nature (1984) 4.41
Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nat Genet (1996) 4.36
A study of patient clues and physician responses in primary care and surgical settings. JAMA (2000) 4.26
The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet (1995) 4.25
An integrative genomics approach to the reconstruction of gene networks in segregating populations. Cytogenet Genome Res (2004) 4.16
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A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome. Proc Natl Acad Sci U S A (1999) 3.37
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A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature (1993) 3.24
Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am J Med Genet (1989) 3.22
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Structure and polymorphism of human telomere-associated DNA. Cell (1990) 3.14
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Non-methylated CpG-rich islands at the human alpha-globin locus: implications for evolution of the alpha-globin pseudogene. EMBO J (1987) 2.84
Quantitative calibration and use of DNA probes for investigating chromosome abnormalities in the Prader-Willi syndrome. Am J Med Genet (1989) 2.83
Molecular characterisation of a hypervariable region downstream of the human alpha-globin gene cluster. EMBO J (1986) 2.77
Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. Am J Hum Genet (1999) 2.71
Polycystin-2, the protein mutated in autosomal dominant polycystic kidney disease (ADPKD), is a Ca2+-permeable nonselective cation channel. Proc Natl Acad Sci U S A (2001) 2.62
A truncated human chromosome 16 associated with alpha thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n. Nature (1990) 2.58
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Improved telomere detection using a telomere repeat probe (TTAGGG)n generated by PCR. Nucleic Acids Res (1991) 2.52
The interaction of alpha-thalassemia and homozygous sickle-cell disease. N Engl J Med (1982) 2.52
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Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes. Proc Natl Acad Sci U S A (1999) 2.24
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A refined physical map of the long arm of human chromosome 16. Genomics (1991) 2.15
A clinical evaluation of all-ceramic bridges placed in UK general dental practices: first-year results. Br Dent J (2008) 2.14
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Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene. Am J Hum Genet (1997) 2.06
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Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy. Hum Mol Genet (1993) 2.02
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Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. Genomics (1999) 1.99
Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N Engl J Med (1994) 1.98
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Two genetic markers closely linked to adult polycystic kidney disease on chromosome 16. Br Med J (Clin Res Ed) (1986) 1.93
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Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons. Am J Hum Genet (2003) 1.82
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