Published in Am J Hum Genet on September 01, 1973
Mosaic autosomal trisomy in cultures from spontaneous abortions. Am J Hum Genet (1978) 1.80
Trisomy 16p in a liveborn infant and a review of partial and full trisomy 16. J Med Genet (1978) 1.61
Our twenty-fifth. Am J Hum Genet (1974) 1.53
Association of ribosomal genes in the fibrillar center of the nucleolus: a factor influencing translocation and nondisjunction in the human meiotic oocyte. Proc Natl Acad Sci U S A (1980) 1.15
46,XX/47XX, + 14 mosaicism in a liveborn infant. J Med Genet (1977) 1.08
Direct chromosomal analysis of human spermatozoa: preliminary results from 18 normal men. Am J Hum Genet (1982) 1.06
Functional implications of differential chromosome banding. Am J Hum Genet (1975) 0.98
Frequency of chromosomal abnormalities in miscarriages and perinatal deaths. J Med Genet (1977) 0.87
Partial trisomy 14 (q23 leads to qter) via segregation of a 14/X translocation. Am J Hum Genet (1983) 0.85
Chromosome aberrations induced in vitro by low doses of radiation: nondisjunction in lymphocytes of young adults. Am J Hum Genet (1975) 0.84
Twinning rate in spontaneous abortions. Am J Hum Genet (1983) 0.81
Identification of C trisomies in human abortuses. J Med Genet (1975) 0.81
Familial 'partial 9p' trisomy: six cases and four carriers in three generations. J Med Genet (1976) 0.77
1(st) trimester miscarriage: four decades of study. Transl Pediatr (2015) 0.76
Population heterogeneity in human sperm DNA content. J Med Genet (1978) 0.75
Expanding diagnostic testing beyond cytogenetics: implications for birth defects research and surveillance. Birth Defects Res A Clin Mol Teratol (2013) 0.75
Testing for nondisjunction in the mouse. Environ Health Perspect (1979) 0.75
Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome. J Med Genet (1968) 3.93
Studies on spontaneous abortions. Fluorescence analysis of abnormal karyotypes. Hereditas (1972) 1.07
Monosomy 21 in spontaneous abortus. Humangenetik (1972) 1.01
Trisomy 14 in spontaneous abortus. Humangenetik (1972) 0.97
Double heteroploidy, 46, XY, t(13q14q), +18, in a spontaneous abortus. Clin Genet (1973) 0.96
Trypsin banding of Giemsa-stained chromosomes. Lancet (1972) 0.95
[Morphological study of human embryos with chromosome aberrations]. Presse Med (1970) 0.95
Routine versus clinically driven laboratory monitoring of HIV antiretroviral therapy in Africa (DART): a randomised non-inferiority trial. Lancet (2009) 7.96
Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr (1981) 3.55
ASC, a novel 22-kDa protein, aggregates during apoptosis of human promyelocytic leukemia HL-60 cells. J Biol Chem (1999) 3.25
Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. Am J Med Genet (1988) 2.94
An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome. Nat Genet (1996) 2.89
Mosaic and polymorphic imprinting of the WT1 gene in humans. Nat Genet (1994) 2.35
Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis. Hum Mol Genet (1992) 2.35
Androgenetic origin of hydatidiform mole. Nature (1977) 2.24
LIT1, an imprinted antisense RNA in the human KvLQT1 locus identified by screening for differentially expressed transcripts using monochromosomal hybrids. Hum Mol Genet (1999) 2.16
Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease. Nat Genet (2000) 2.02
High resolution-banded chromosomes from patients with Sotos syndrome. Clin Genet (1991) 1.92
Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a. Hum Mol Genet (2003) 1.92
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet (2000) 1.80
Disomic homozygosity in 21-trisomic cells: a mechanism responsible for transient myeloproliferative syndrome. Hum Genet (1989) 1.72
Anatomic and chromosomal anomalies in 639 spontaneous abortuses. Hum Genet (1980) 1.68
Involvement of claudin-1 in the beta-catenin/Tcf signaling pathway and its frequent upregulation in human colorectal cancers. Oncol Res (2001) 1.66
Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA. Nat Genet (1994) 1.53
Strategies for nevirapine initiation in HIV-infected children taking pediatric fixed-dose combination "baby pills" in Zambia: a randomized controlled trial. Clin Infect Dis (2010) 1.52
47,XX,UPD(7)mat,+r(7)pat/46,XX,UPD(7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): possible exclusion of the putative SRS gene from a 7p13-q11 region. J Med Genet (1999) 1.50
DNA deletion and its parental origin in Angelman syndrome patients. Am J Med Genet (1991) 1.49
Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients. Hum Mol Genet (1993) 1.49
Diagnostic hand anomalies in Smith-Magenis syndrome: four new patients with del (17)(p11.2p11.2) Am J Med Genet (1991) 1.48
Hairy throat: a dominant trait affecting seven members of a family. Clin Dysmorphol (1992) 1.46
Translocation (X;13)(p11.21;q12.3) in a girl with incontinentia pigmenti and bilateral retinoblastoma. Ann Genet (1985) 1.40
Cardio-facio-cutaneous (CFC) syndrome: report of two patients without hyperkeratotic skin lesions. Am J Med Genet (1991) 1.39
Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1. Am J Hum Genet (1999) 1.39
Polymorphic and tissue-specific imprinting of the human Wilms tumor gene, WT1. Jpn J Hum Genet (1997) 1.37
Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor beta 3-subunit gene. Lancet (1992) 1.37
A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family. J Med Genet (2004) 1.37
Origin of triploidy and tetraploidy in man: 11 cases with chromosomes markers. Cytogenet Cell Genet (1977) 1.36
Hypermetabolism in ALS patients: an early and persistent phenomenon. J Neurol (2009) 1.33
The Wiedemann-Beckwith syndrome: pedigree studies on five families with evidence for autosomal dominant inheritance with variable expressivity. Am J Med Genet (1986) 1.31
Mouse/human sequence divergence in a region with a paternal-specific methylation imprint at the human H19 locus. Hum Mol Genet (1996) 1.27
Human adenylate kinase deficiency associated with hemolytic anemia. A single base substitution affecting solubility and catalytic activity of the cytosolic adenylate kinase. J Biol Chem (1989) 1.27
Isolation and characterization of a novel gene deleted in DiGeorge syndrome. Hum Mol Genet (1995) 1.26
PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse. Hum Genet (2003) 1.23
Cytogenetics of aborters and abortuses. Am J Obstet Gynecol (1978) 1.21
Use of psoralen as extinguisher of contaminated DNA in PCR. Nucleic Acids Res (1990) 1.21
Genomic imprinting of human p57KIP2 and its reduced expression in Wilms' tumors. Hum Mol Genet (1996) 1.21
Hydatidiform mole: two entities. A morphologic and cytogenetic study with some clinical consideration. Am J Obstet Gynecol (1977) 1.21
Clinical and cytogenetic studies of the Prader-Willi syndrome: evidence of phenotype-karyotype correlation. Hum Genet (1985) 1.19
A lethal syndrome of microcephaly with multiple congenital anomalies in three siblings. Pediatrics (1971) 1.17
Molecular cloning of a human protein that binds to the retinoblastoma protein and chromosomal mapping. Genomics (1995) 1.16
Molecular study of the Prader-Willi syndrome: deletion, RFLP, and phenotype analyses of 50 patients. Am J Med Genet (1991) 1.15
A stable acentric marker chromosome: possible existence of an intercalary ancient centromere at distal 8p. Am J Hum Genet (1994) 1.15
Cause of sudden, unexpected death of Prader-Willi syndrome patients with or without growth hormone treatment. Am J Med Genet A (2005) 1.14
Cloning of the peroxiredoxin gene family in rats and characterization of the fourth member. FEBS Lett (1999) 1.13
Ring chromosome 15 involving deletion of the insulin-like growth factor 1 receptor gene in a patient with features of Silver-Russell syndrome. Clin Dysmorphol (1993) 1.09
The origin of mosaic Down syndrome: four cases with chromosome markers. Am J Hum Genet (1984) 1.08
Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene. Gene (2001) 1.08
Tissue-specific and developmentally regulated expression of the genes encoding adenylate kinase isozymes. J Biochem (1993) 1.08
Contrast echocardiographic visualization of cough-induced right to left shunt through a patent foramen ovale. J Am Coll Cardiol (1984) 1.08
Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation. Am J Med Genet (1997) 1.07
Detection of cell free placental DNA in maternal plasma: direct evidence from three cases of confined placental mosaicism. J Med Genet (2004) 1.06
A 1.2-megabase BAC/PAC contig spanning the 14q13 breakpoint of t(2; 14) in a mirror-image polydactyly patient. Genomics (1997) 1.06
Aneurysms of sinus of Valsalva: two-dimensional echocardiographic diagnosis and recognition of rupture into the right heart cavities. J Am Coll Cardiol (1984) 1.06
A second class of immunoglobulin other than IgM present in the serum of a cartilaginous fish, the skate, Raja kenojei: isolation and characterization. Mol Immunol (1984) 1.06
Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3). Am J Med Genet (1989) 1.05
New p57KIP2 mutations in Beckwith-Wiedemann syndrome. Hum Genet (1997) 1.05
Ring chromosome 11 [46,XX,r(11) (p15q25)] associated with clinical features of the 11q- syndrome. Ann Genet (1981) 1.04
Identification of proacrosin binding protein sp32 precursor as a human cancer/testis antigen. Proc Natl Acad Sci U S A (2001) 1.04
Anatomic and chromosomal anomalies in 944 induced abortuses. Hum Genet (1978) 1.02
Monosomy 21 in spontaneous abortus. Humangenetik (1972) 1.01
EC syndrome in a girl with paracentric inversion (7)(q22.1;q36.3). Clin Dysmorphol (1993) 1.01
Narrow host range of AIDS-related retroviruses (YU-1, 2, 3, 4) isolated from Japanese hemophiliacs: inability to infect H9, Molt-4, and MT-4 cells. Jpn J Cancer Res (1986) 1.01
Jacalin, a jackfruit lectin, precipitates IgA1 but not IgA2 subclass on gel diffusion reaction. J Immunol Methods (1986) 1.01
Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions. J Med Genet (2003) 1.00
Possible narrowed assignment of the loci of monosomy 21-associated microcephaly and intrauterine growth retardation to a 1.2-Mb segment at 21q22.2. Am J Hum Genet (1997) 1.00
The origin of cytologically unidentifiable chromosome abnormalities: six cases ascertained by targeted chromosome-band painting. Hum Genet (1993) 1.00
Domain-specific mutations of a transforming growth factor (TGF)-beta 1 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-beta 1. J Biol Chem (2001) 0.98
Penta X syndrome: a case report with review of the literature. Am J Med Genet (1991) 0.97
No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients. Am J Med Genet (2001) 0.97
Trisomy 14 in spontaneous abortus. Humangenetik (1972) 0.97
Double heteroploidy, 46, XY, t(13q14q), +18, in a spontaneous abortus. Clin Genet (1973) 0.96
cDNA cloning and chromosomal mapping of human N-acetylglucosaminyltransferase V+. Biochem Biophys Res Commun (1994) 0.96
cDNA sequence and chromosomal localization of a novel human protein, RBQ-1 (RBBP6), that binds to the retinoblastoma gene product. Genomics (1995) 0.95
Trypsin banding of Giemsa-stained chromosomes. Lancet (1972) 0.95
The Sugio-Kajii syndrome, proposed tricho-rhino-phalangeal syndrome type III. Am J Med Genet (1986) 0.95
Combined Goltz and Aicardi syndromes in a terminal Xp deletion: are they a contiguous gene syndrome? Am J Med Genet (1992) 0.95
An abnormality of neutrophil adhesion: autosomal recessive inheritance associated with missing neutrophil glycoproteins. Pediatrics (1984) 0.95
Transmission and genetic shift of human immunodeficiency virus (HIV) in vivo. Mol Biol Med (1987) 0.95
Cloning and characterization of the inversion breakpoint at chromosome 2q35 in a patient with Waardenburg syndrome type I. Hum Mol Genet (1992) 0.94
Ruvalcaba syndrome: autosomal dominant inheritance. Am J Med Genet (1984) 0.94
Type A1 brachydactyly, dwarfism, ptosis, mixed partial hearing loss, microcephaly, and mental retardation. Am J Med Genet (1989) 0.94