Report date: Nov 6,2024 Conflict count: 361874 Publisher: Springer-Verlag Title count: 281 Conflict count: 3959 ========================================================== Created: 2019-12-11 20:59:42 ConfID: 5566815 CauseID: 1459794145 OtherID: 58073986 JT: Human Genetics MD: Shroyer,106,2,244,2000,Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance DOI: 10.1007/s004390051034(Journal) (5566815-N) DOI: 10.1007/s004399900222(Journal) ========================================================== Created: 2019-12-11 21:09:38 ConfID: 5566836 CauseID: 1459796123 OtherID: 58077883 JT: Human Genetics MD: Voullaire,106,2,210,2000,Chromosome analysis of blastomeres from human embryos by using comparative genomic hybridization DOI: 10.1007/s004390051030(Journal) (5566836-N) DOI: 10.1007/s004399900225(Journal) ========================================================== Created: 2019-12-11 21:10:27 ConfID: 5566837 CauseID: 1459796276 OtherID: 58062392 JT: Human Genetics MD: Cody,105,5,424,1999,Haplosufficiency of the melanocortin-4 receptor gene in individuals with deletions of 18q DOI: 10.1007/s004390051125(Journal) (5566837-N) DOI: 10.1007/s004399900147(Journal) ========================================================== Created: 2019-12-11 21:11:03 ConfID: 5566838 CauseID: 1459796394 OtherID: 58063779 JT: Human Genetics MD: Friez,106,1,36,2000,Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation DOI: 10.1007/s004390051006(Journal) (5566838-N) DOI: 10.1007/s004399900202(Journal) ========================================================== Created: 2019-12-11 21:11:26 ConfID: 5566839 CauseID: 1459796475 OtherID: 58071680 JT: Human Genetics MD: Mornet,106,3,330,2000,A 3D model of human P450c21: study of the putative effects of steroid 21-hydroxylase gene mutations DOI: 10.1007/s004390051046(Journal) (5566839-N) DOI: 10.1007/s004390000262(Journal) ========================================================== Created: 2019-12-11 21:07:25 ConfID: 5566832 CauseID: 1459795692 OtherID: 58077618 JT: Human Genetics MD: Parfait,106,2,236,2000,Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome DOI: 10.1007/s004390051033(Journal) (5566832-N) DOI: 10.1007/s004399900218(Journal) ========================================================== Created: 2019-12-11 21:07:30 ConfID: 5566833 CauseID: 1459795703 OtherID: 58076742 JT: Human Genetics MD: Iida,106,3,277,2000,Identification of a gene disrupted by inv(11)(q13.5;q25) in a patient with left-right axis malformation DOI: 10.1007/s004390051038(Journal) (5566833-N) DOI: 10.1007/s004390000245(Journal) ========================================================== Created: 2019-12-11 21:08:36 ConfID: 5566834 CauseID: 1459795926 OtherID: 58062392 JT: Human Genetics MD: Bonthron,105,5,452,1999,Complex patterns of intragenic polymorphism at the PDGFA locus DOI: 10.1007/s004390051130(Journal) (5566834-N) DOI: 10.1007/s004399900141(Journal) ========================================================== Created: 2019-12-11 21:12:12 ConfID: 5566844 CauseID: 1459796632 OtherID: 48571542 JT: Human Genetics MD: Burwinkel,105,3,240,1999,A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity DOI: 10.1007/s004390051095(Journal) (5566844-N) DOI: 10.1007/s004399900123(Journal) ========================================================== Created: 2019-12-11 21:12:23 ConfID: 5566845 CauseID: 1459796674 OtherID: 58063779 JT: Human Genetics MD: Pertl,106,1,45,2000,Detection of male and female fetal DNA in maternal plasma by multiplex fluorescent polymerase chain reaction amplification of short tandem repeats DOI: 10.1007/s004390051008(Journal) (5566845-N) DOI: 10.1007/s004399900166(Journal) ========================================================== Created: 2019-12-11 21:12:53 ConfID: 5566846 CauseID: 1459796791 OtherID: 58070793 JT: Human Genetics MD: Honda,106,2,188,2000,Meiotic segregation analysis of a 14;21 Robertsonian translocation carrier by fluorescence in situ hybridization DOI: 10.1007/s004390051027(Journal) (5566846-N) DOI: 10.1007/s004399900216(Journal) ========================================================== Created: 2019-12-11 21:12:57 ConfID: 5566847 CauseID: 1459796804 OtherID: 58068454 JT: Human Genetics MD: Suto,106,2,164,2000,Gene organization and rearrangements at the human Rhesus blood group locus revealed by fiber-FISH analysis DOI: 10.1007/s004390051024(Journal) (5566847-N) DOI: 10.1007/s004390000237(Journal) ========================================================== Created: 2019-12-11 21:11:52 ConfID: 5566840 CauseID: 1459796563 OtherID: 58063779 JT: Human Genetics MD: Miura,106,1,116,2000,Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families DOI: 10.1007/s004390051018(Journal) (5566840-N) DOI: 10.1007/s004399900205(Journal) ========================================================== Created: 2019-12-11 21:11:57 ConfID: 5566841 CauseID: 1459796579 OtherID: 58062392 JT: Human Genetics MD: Thomas,105,5,384,1999,Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region DOI: 10.1007/s004390051120(Journal) (5566841-N) DOI: 10.1007/s004399900159(Journal) ========================================================== Created: 2019-12-11 21:11:57 ConfID: 5566842 CauseID: 1459796580 OtherID: 58063779 JT: Human Genetics MD: Schumacher,106,1,73,2000,Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism DOI: 10.1007/s004390051012(Journal) (5566842-N) DOI: 10.1007/s004399900200(Journal) ========================================================== Created: 2019-12-11 21:12:02 ConfID: 5566843 CauseID: 1459796596 OtherID: 58070398 JT: Human Genetics MD: Adachi,106,3,306,2000,Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features DOI: 10.1007/s004390051042(Journal) (5566843-N) DOI: 10.1007/s004390000253(Journal) ========================================================== Created: 2019-12-11 21:03:51 ConfID: 5566820 CauseID: 1459795026 OtherID: 58063779 JT: Human Genetics MD: Chen,106,1,125,2000,Origin and implication of the hereditary pancreatitis-associated N21I mutation in the cationic trypsinogen gene DOI: 10.1007/s004390051019(Journal) (5566820-N) DOI: 10.1007/s004399900211(Journal) ========================================================== Created: 2019-12-11 21:05:43 ConfID: 5566822 CauseID: 1459795334 OtherID: 58073853 JT: Human Genetics MD: Wolf,105,3,288,1999,Reorganization of the sex-determining pathway with the evolution of placentation DOI: 10.1007/s004390051103(Journal) (5566822-N) DOI: 10.1007/s004399900116(Journal) ========================================================== Created: 2019-12-11 21:05:48 ConfID: 5566823 CauseID: 1459795349 OtherID: 58069749 JT: Human Genetics MD: Del-Favero,105,3,217,1999,Isolation of CAG/CTG repeats from within the chromosome 2p21-p24 locus for autosomal dominant spastic paraplegia (SPG4) by YAC fragmentation DOI: 10.1007/s004390051092(Journal) (5566823-N) DOI: 10.1007/s004399900112(Journal) ========================================================== Created: 2019-12-11 21:00:41 ConfID: 5566816 CauseID: 1459794352 OtherID: 58063779 JT: Human Genetics MD: He,106,1,1,2000,Congenital cataracts: gene mapping DOI: 10.1007/s004390051002(Journal) (5566816-N) DOI: 10.1007/s004399900169(Journal) ========================================================== Created: 2019-12-11 21:03:01 ConfID: 5566818 CauseID: 1459794851 OtherID: 58062392 JT: Human Genetics MD: Lehtonen,105,5,513,1999,Haplotype-matched controls as a tool to discriminate polymorphisms from pathogenic mutations in mtDNA DOI: 10.1007/s004390051139(Journal) (5566818-N) DOI: 10.1007/s004399900155(Journal) ========================================================== Created: 2019-12-11 21:07:11 ConfID: 5566828 CauseID: 1459795637 OtherID: 58072362 JT: Human Genetics MD: Bombieri,106,2,172,2000,A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals DOI: 10.1007/s004390051025(Journal) (5566828-N) DOI: 10.1007/s004399900228(Journal) ========================================================== Created: 2019-12-11 21:07:12 ConfID: 5566829 CauseID: 1459795640 OtherID: 58062392 JT: Human Genetics MD: Spirio,105,5,388,1999,The identical 5' splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect DOI: 10.1007/s004390051121(Journal) (5566829-N) DOI: 10.1007/s004399900153(Journal) ========================================================== Created: 2019-12-11 21:07:18 ConfID: 5566830 CauseID: 1459795658 OtherID: 58062392 JT: Human Genetics MD: Liu,105,5,437,1999,Missense mutations in hMLH1 associated with colorectal cancer DOI: 10.1007/s004390051127(Journal) (5566830-N) DOI: 10.1007/s004399900160(Journal) ========================================================== Created: 2019-12-11 21:05:53 ConfID: 5566824 CauseID: 1459795372 OtherID: 58079298 JT: Human Genetics MD: Muller,106,3,340,2000,Parental origin of the extra chromosome in prenatally diagnosed fetal trisomy 21 DOI: 10.1007/s004390051047(Journal) (5566824-N) DOI: 10.1007/s004399900226(Journal) ========================================================== Created: 2019-12-11 21:06:10 ConfID: 5566825 CauseID: 1459795433 OtherID: 58080713 JT: Human Genetics MD: Rives,105,3,266,1999,Relationship between clinical phenotype, semen parameters and aneuploidy frequency in sperm nuclei of 50 infertile males DOI: 10.1007/s004390051100(Journal) (5566825-N) DOI: 10.1007/s004399900097(Journal) ========================================================== Created: 2019-12-11 21:06:35 ConfID: 5566826 CauseID: 1459795522 OtherID: 58083824 JT: Human Genetics MD: Hashimoto,105,3,197,1999,Genetic contribution of the BAT2 gene microsatellite polymorphism to the age-at-onset of insulin-dependent diabetes mellitus DOI: 10.1007/s004390051089(Journal) (5566826-N) DOI: 10.1007/s004399900100(Journal) ========================================================== Created: 2019-12-11 21:06:48 ConfID: 5566827 CauseID: 1459795559 OtherID: 58083824 JT: Human Genetics MD: Collins,106,2,218,2000,A simple and accurate method for determination of microsatellite total allele content differences between DNA pools DOI: 10.1007/s004390051031(Journal) (5566827-N) DOI: 10.1007/s004399900213(Journal) ========================================================== Created: 2019-12-11 21:20:08 ConfID: 5566868 CauseID: 1459798307 OtherID: 58062392 JT: Human Genetics MD: Honda,105,5,428,1999,Analysis of segregation and aneuploidy in two reciprocal translocation carriers, t(3;9)(q26.2;q32) and t(3;9)(p25;q32), by triple-color fluorescence in situ hybridization DOI: 10.1007/s004390051126(Journal) (5566868-N) DOI: 10.1007/s004399900161(Journal) ========================================================== Created: 2019-12-11 21:18:40 ConfID: 5566864 CauseID: 1459798018 OtherID: 58062392 JT: Human Genetics MD: Kunishima,105,5,379,1999,Mapping of a gene for May-Hegglin anomaly to chromosome 22q DOI: 10.1007/s004390051119(Journal) (5566864-N) DOI: 10.1007/s004399900132(Journal) ========================================================== Created: 2019-12-11 21:18:55 ConfID: 5566866 CauseID: 1459798069 OtherID: 58062392 JT: Human Genetics MD: Patzak,105,5,506,1999,Identification, mapping, and genomic structure of a novel X-chromosomal human gene (SMPX) encoding a small muscular protein DOI: 10.1007/s004390051138(Journal) (5566866-N) DOI: 10.1007/s004399900171(Journal) ========================================================== Created: 2019-12-11 21:19:46 ConfID: 5566867 CauseID: 1459798244 OtherID: 58063779 JT: Human Genetics MD: Katsanis,106,1,66,2000,Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13 DOI: 10.1007/s004390051011(Journal) (5566867-N) DOI: 10.1007/s004399900224(Journal) ========================================================== Created: 2019-12-11 21:13:40 ConfID: 5566852 CauseID: 1459796972 OtherID: 58079902 JT: Human Genetics MD: Saleem,106,2,179,2000,Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation DOI: 10.1007/s004390051026(Journal) (5566852-N) DOI: 10.1007/s004390000240(Journal) ========================================================== Created: 2019-12-11 21:13:49 ConfID: 5566853 CauseID: 1459796986 OtherID: 58062392 JT: Human Genetics MD: Mallolas,105,5,468,1999,Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation DOI: 10.1007/s004390051132(Journal) (5566853-N) DOI: 10.1007/s004399900157(Journal) ========================================================== Created: 2019-12-11 21:14:35 ConfID: 5566854 CauseID: 1459797162 OtherID: 58062392 JT: Human Genetics MD: Gogusev,105,5,444,1999,Detection of DNA copy number changes in human endometriosis by comparative genomic hybridization DOI: 10.1007/s004390051129(Journal) (5566854-N) DOI: 10.1007/s004399900174(Journal) ========================================================== Created: 2019-12-11 21:14:57 ConfID: 5566855 CauseID: 1459797233 OtherID: 58075254 JT: Human Genetics MD: Correa-Cerro,105,3,281,1999,Vitamin D receptor polymorphisms as markers in prostate cancer DOI: 10.1007/s004390051102(Journal) (5566855-N) DOI: 10.1007/s004399900119(Journal) ========================================================== Created: 2019-12-11 21:13:04 ConfID: 5566849 CauseID: 1459796830 OtherID: 58073986 JT: Human Genetics MD: Friend,105,3,261,1999,Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM DOI: 10.1007/s004390051099(Journal) (5566849-N) DOI: 10.1007/s004399900101(Journal) ========================================================== Created: 2019-12-11 21:13:17 ConfID: 5566850 CauseID: 1459796875 OtherID: 58073853 JT: Human Genetics MD: Prescott,106,3,345,2000,Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs DOI: 10.1007/s004390051048(Journal) (5566850-N) DOI: 10.1007/s004390000239(Journal) ========================================================== Created: 2019-12-11 21:13:30 ConfID: 5566851 CauseID: 1459796927 OtherID: 58062392 JT: Human Genetics MD: Lin,105,5,515,1999,Type-1c glycogen storage disease is not caused by mutations in the glucose-6-phosphate transporter gene DOI: 10.1007/s004390051140(Journal) (5566851-N) DOI: 10.1007/s004399900170(Journal) ========================================================== Created: 2019-12-11 21:16:40 ConfID: 5566860 CauseID: 1459797594 OtherID: 58075254 JT: Human Genetics MD: Wilk,106,3,355,2000,Segregation analysis of serum uric acid in the NHLBI Family Heart Study DOI: 10.1007/s004390051050(Journal) (5566860-N) DOI: 10.1007/s004390000243(Journal) ========================================================== Created: 2019-12-11 21:17:25 ConfID: 5566861 CauseID: 1459797753 OtherID: 58063779 JT: Human Genetics MD: Sobe,106,1,50,2000,The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population DOI: 10.1007/s004390051009(Journal) (5566861-N) DOI: 10.1007/s004399900214(Journal) ========================================================== Created: 2019-12-11 21:18:04 ConfID: 5566862 CauseID: 1459797877 OtherID: 58078340 JT: Human Genetics MD: Lambiris,105,3,258,1999,Rapid FMR1-protein analysis of fetal blood: an enhancement of prenatal diagnostics DOI: 10.1007/s004390051098(Journal) (5566862-N) DOI: 10.1007/s004399900127(Journal) ========================================================== Created: 2019-12-11 21:18:23 ConfID: 5566863 CauseID: 1459797940 OtherID: 58075692 JT: Human Genetics MD: Ohnishi,106,3,288,2000,Identification of 187 single nucleotide polymorphisms (SNPs) among 41 candidate genes for ischemic heart disease in the Japanese population DOI: 10.1007/s004390051039(Journal) (5566863-N) DOI: 10.1007/s004390000247(Journal) ========================================================== Created: 2019-12-11 21:15:10 ConfID: 5566856 CauseID: 1459797282 OtherID: 6223 JT: Human Genetics MD: Turner,106,1,93,2000,Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype DOI: 10.1007/s004390051015(Journal) (5566856-N) DOI: 10.1007/s004399900221(Journal) ========================================================== Created: 2019-12-11 21:15:22 ConfID: 5566857 CauseID: 1459797319 OtherID: 58078340 JT: Human Genetics MD: Perrichot,105,3,231,1999,DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients DOI: 10.1007/s004390051094(Journal) (5566857-N) DOI: 10.1007/s004399900122(Journal) ========================================================== Created: 2019-12-11 21:16:17 ConfID: 5566859 CauseID: 1459797515 OtherID: 58085072 JT: Human Genetics MD: Hwu,105,3,226,1999,Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation DOI: 10.1007/s004390051093(Journal) (5566859-N) DOI: 10.1007/s004399900115(Journal)