TP53 and head and neck neoplasms.

abstract：:Hemoglobinopathies constitute a major health problem worldwide, with a high carrier frequency, particularly in certain regions where malaria has been endemic. These disorders are characterized by a vast clinical and hematological phenotypic heterogeneity. Over 1,200 different genetic alterations that affect the DNA se...

journal_title：Human mutation

authors： Patrinos GP,Kollia P,Papadakis MN

更新日期：2005-11-01 00:00:00

abstract：:A large number of sequence variants identified in BRCA1 and BRCA2 cannot be distinguished as either disease-causing mutations or neutral variants. These so-called unclassified variants (UVs) include variants that are located in the intronic sequences of BRCA1 and BRCA2. The purpose of this study was to assess the use ...

journal_title：Human mutation

authors： Vreeswijk MP,Kraan JN,van der Klift HM,Vink GR,Cornelisse CJ,Wijnen JT,Bakker E,van Asperen CJ,Devilee P

更新日期：2009-01-01 00:00:00

abstract：:Mutations in the Tyrosinase gene (TYR, 11q14-q21) cause oculocutaneous albinism type 1 (OCA1). The 3'-region of the TYR shows 98.55% sequence identity with a pseudogene, known as Tyrosinase-Like Gene (TYRL, 11p11.2-cen). A large number of publicly available nucleotide variants of TYR in this region are same as the bas...

journal_title：Human mutation

authors： Chaki M,Mukhopadhyay A,Ray K

更新日期：2005-07-01 00:00:00

abstract：:Fabry disease is an X-linked inborn error of sphingolipid catabolism resulting from deficient enzyme activity of alpha-galactosidase A. The molecular defects of human alpha-galactosidase A gene causing Fabry disease have been characterized, including gene rearrangement and point mutations, which show the genetic heter...

journal_title：Human mutation

authors： Chen CH,Shyu PW,Wu SJ,Sheu SS,Desnick RJ,Hsiao KJ

更新日期：1998-01-01 00:00:00

abstract：:Fifty to eighty percent of Rett syndrome (RTT) cases have point mutations in the gene encoding methyl-CpG-binding protein-2 (MECP2). A fraction of MECP2 negative classical RTT patients has large heterozygous deletions. Robust Dosage PCR (RD-PCR) assays were developed as a rapid, convenient and accurate method to detec...

journal_title：Human mutation

authors： Shi J,Shibayama A,Liu Q,Nguyen VQ,Feng J,Santos M,Temudo T,Maciel P,Sommer SS

更新日期：2005-05-01 00:00:00

abstract：:Glutamatergic neurotransmission is crucial for brain development, wiring neuronal function, and synaptic plasticity mechanisms. Recent genetic studies showed the existence of autosomal dominant de novo GRIN gene variants associated with GRIN-related disorders (GRDs), a rare pediatric neurological disorder caused by N-...

journal_title：Human mutation

authors： García-Recio A,Santos-Gómez A,Soto D,Julia-Palacios N,García-Cazorla À,Altafaj X,Olivella M

更新日期：2020-11-30 00:00:00

abstract：:In the analysis of 40 CEPH families, under the EUROGEM project, with a total of 29 microsatellites (26 CA-repeats, a TCTA-repeat within the vWFII-3 gene, a TTA-repeat within the PLA-2 gene, and an AAAT-repeat intragenic to the NF1 gene) from human chromosomes 12, 17, and 21, we have detected 21 cases of abnormal segre...

journal_title：Human mutation

authors： Banchs I,Bosch A,Guimerà J,Lázaro C,Puig A,Estivill X

更新日期：1994-01-01 00:00:00

abstract：:Sequence analysis of the X-linked iduronate-2-sulfatase (IDS) gene in two Hunter syndrome patients revealed a lack of concordance between IDS genomic DNA and cDNA. These individuals were found to be hemizygous respectively for a nonsense mutation [c.22C>T;p.R8X] and a frameshift micro-insertion [c.10insT;p.P4Sfs] in t...

journal_title：Human mutation

authors： Lualdi S,Tappino B,Di Duca M,Dardis A,Anderson CJ,Biassoni R,Thompson PW,Corsolini F,Di Rocco M,Bembi B,Regis S,Cooper DN,Filocamo M

更新日期：2010-04-01 00:00:00

abstract：:Choroideremia (CHM) is an X-linked recessive eye disease that results from mutations involving the Rab escort protein-1 (REP-1) gene. In 18 patients deletions of different sizes have been found. Two females suffering from CHM were reported to have translocations that disrupt the REP-1 gene. In 22 patients, small mutat...

journal_title：Human mutation

authors： van den Hurk JA,Schwartz M,van Bokhoven H,van de Pol TJ,Bogerd L,Pinckers AJ,Bleeker-Wagemakers EM,Pawlowitzki IH,Rüther K,Ropers HH,Cremers FP

更新日期：1997-01-01 00:00:00

abstract：:Previous evidence indicates that mutations in the GALNT12 gene might cause a fraction of the unexplained familial colorectal cancer (CRC) cases: GALNT12 is located in 9q22-33, in close proximity to a CRC linkage peak; and germline missense variants that reduce the enzymatic activity of the protein have been identified...

journal_title：Human mutation

authors： Seguí N,Pineda M,Navarro M,Lázaro C,Brunet J,Infante M,Durán M,Soto JL,Blanco I,Capellá G,Valle L

更新日期：2014-01-01 00:00:00

abstract：:Hereditary cataract is a phenotypically and genetically heterogeneous lens disease that is responsible for a significant proportion of the visual impairment and blindness that occurs in children. In a five-generation Chinese family with autosomal dominant inherited congenital cataract, clinical examination showed thre...

journal_title：Human mutation

authors： Gu F,Luo W,Li X,Wang Z,Lu S,Zhang M,Zhao B,Zhu S,Feng S,Yan YB,Huang S,Ma X

更新日期：2008-05-01 00:00:00

abstract：:Although most of the pertinent data on the sequence-directed processes leading to genome rearrangements (GRs) have come from studies on somatic tissues, little is known about GRs in the germ line of patients with hereditary disorders. This study aims at identifying DNA motifs and higher order structures of genome arch...

journal_title：Human mutation

authors： Kovac MB,Kovacova M,Bachraty H,Bachrata K,Piscuoglio S,Hutter P,Ilencikova D,Bartosova Z,Tomlinson I,Roethlisberger B,Heinimann K

更新日期：2015-02-01 00:00:00

abstract：:We describe a scanning procedure for the detection of beta-globin gene mutations and the prenatal diagnosis of beta-thalassemias. The method is based on the combined use of PCR and denaturing gradient gel electrophoresis (DGGE) of six amplified fragments encompassing the whole beta-globin coding region and splice junc...

journal_title：Human mutation

authors： Ghanem N,Girodon E,Vidaud M,Martin J,Fanen P,Plassa F,Goossens M

更新日期：1992-01-01 00:00:00

abstract：:Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar "kinky" hair, are the main manifestations. MD is inherited as an X-linked recessive trait, and as expected the vast majority of patients are males. M...

journal_title：Human mutation

authors： Tümer Z

更新日期：2013-03-01 00:00:00

abstract：:Longitudinal bone growth is determined by the process of endochondral ossification in the cartilaginous growth plate, which is located at both ends of vertebrae and long bones and involves many systemic hormones and local regulators. We report the molecular characterization of a de novo balanced t(2;7)(q37.1;q21.3) tr...

journal_title：Human mutation

authors： Bocciardi R,Giorda R,Buttgereit J,Gimelli S,Divizia MT,Beri S,Garofalo S,Tavella S,Lerone M,Zuffardi O,Bader M,Ravazzolo R,Gimelli G

更新日期：2007-07-01 00:00:00

abstract：:We report a new syndrome due to loss-of-function variants in the heterogeneous nuclear ribonucleoprotein K gene (HNRNPK). We describe two probands: one with a de novo frameshift (NM_002140.3: c.953+1dup), and the other with a de novo splice donor site variant (NM_002140.3: c.257G>A). Both probands have intellectual di...

journal_title：Human mutation

authors： Au PYB,You J,Caluseriu O,Schwartzentruber J,Majewski J,Bernier FP,Ferguson M,Care for Rare Canada Consortium.,Valle D,Parboosingh JS,Sobreira N,Innes AM,Kline AD

更新日期：2015-10-01 00:00:00

abstract：:Xq22 deletions that encompass PLP1 (Xq22-PLP1-DEL) are notable for variable expressivity of neurological disease traits in females ranging from a mild late-onset form of spastic paraplegia type 2 (MIM# 312920), sometimes associated with skewed X-inactivation, to an early-onset neurological disease trait (EONDT) of sev...

journal_title：Human mutation

authors： Hijazi H,Coelho FS,Gonzaga-Jauregui C,Bernardini L,Mar SS,Manning MA,Hanson-Kahn A,Naidu S,Srivastava S,Lee JA,Jones JR,Friez MJ,Alberico T,Torres B,Fang P,Cheung SW,Song X,Davis-Williams A,Jornlin C,Wight PA,Paty

更新日期：2020-01-01 00:00:00

abstract：:Metachromatic leukodystrophy (MLD) is a rare autosomal recessive disorder caused by mutations of the arylsulfatase A (ARSA) gene. We have investigated more than fifty MLD patients using allele-specific PCR assays to detect the pseudodeficiency (PD) allele and several common MLD mutations, followed by comprehensive nuc...

journal_title：Human mutation

authors： Eng B,Nakamura LN,O'Reilly N,Schokman N,Nowaczyk MM,Krivit W,Waye JS

更新日期：2003-11-01 00:00:00

abstract：:Germline mutations in the BRCA2 gene have been shown to be associated with familial female and male breast cancer. Mutations occur throughout the entire coding region of the gene, and there is considerable ethnic and geographical diversity in the deleterious mutations detected in different populations. No data exist o...

journal_title：Human mutation

authors： Hadjisavvas A,Charalambous E,Adamou A,Christodoulou CG,Kyriacou K

更新日期：2003-02-01 00:00:00

abstract：:Linkage studies have provided evidence that one or more loci on chromosome 9q influence Alzheimer disease (AD). The gene encoding the ATP-binding cassette A1 transporter (ABCA1) resides within proximity of previously identified linkage peaks and represents a plausible biological candidate for AD due to its central rol...

journal_title：Human mutation

authors： Katzov H,Chalmers K,Palmgren J,Andreasen N,Johansson B,Cairns NJ,Gatz M,Wilcock GK,Love S,Pedersen NL,Brookes AJ,Blennow K,Kehoe PG,Prince JA

更新日期：2004-04-01 00:00:00

abstract：:Fibroblast growth factor 9 (FGF9) is a member of secreted polypeptide families and involved in many important biological processes, including implantation and morphogenesis during embryogenesis and adult life. Recently, Fgf9-knockout mice exhibited male-to-female sex reversal, demonstrating a novel function for FGF9 i...

journal_title：Human mutation

authors： Chen TM,Kuo PL,Hsu CH,Tsai SJ,Chen MJ,Lin CW,Sun HS

更新日期：2007-01-01 00:00:00

abstract：:Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive multisystem disorder caused by mutations in vacuolar protein sorting 33 homologue B (VPS33B) and VPS33B interacting protein, apical-basolateral polarity regulator (VIPAR). Cardinal features of ARC include congenital joint contrac...

journal_title：Human mutation

authors： Smith H,Galmes R,Gogolina E,Straatman-Iwanowska A,Reay K,Banushi B,Bruce CK,Cullinane AR,Romero R,Chang R,Ackermann O,Baumann C,Cangul H,Cakmak Celik F,Aygun C,Coward R,Dionisi-Vici C,Sibbles B,Inward C,Kim CA,Klu

更新日期：2012-12-01 00:00:00

abstract：:Multiplex ligation-dependent probe amplification (MLPA) is widely used to screen genes of interest for deletions and duplications. Since MLPA is usually based on size-separation of the amplification products, the maximum number of target sequences that can be screened in parallel is usually limited to approximately 40...

journal_title：Human mutation

authors： Zeng F,Ren ZR,Huang SZ,Kalf M,Mommersteeg M,Smit M,White S,Jin CL,Xu M,Zhou DW,Yan JB,Chen MJ,van Beuningen R,Huang SZ,den Dunnen J,Zeng YT,Wu Y

更新日期：2008-01-01 00:00:00

abstract：:Retinitis pigmentosa (RP) constitutes a major cause of blindness and the Retinitis Pigmentosa GTPase Regulator (RPGR) gene accounts for up to 80% of all X-linked RP cases. A novel isoform of RPGR, expressed in the human retina, was identified and characterized. It truncates the Regulator of Chromosome Condensation 1 (...

journal_title：Human mutation

authors： Neidhardt J,Glaus E,Barthelmes D,Zeitz C,Fleischhauer J,Berger W

更新日期：2007-08-01 00:00:00

abstract：:Disease gene discovery has been transformed by affordable sequencing of exomes and genomes. Identification of disease-causing mutations requires sifting through a large number of sequence variants. A subset of the variants are unlikely to be good candidates for disease causation based on one or more of the following c...

journal_title：Human mutation

authors： Fuentes Fajardo KV,Adams D,NISC Comparative Sequencing Program.,Mason CE,Sincan M,Tifft C,Toro C,Boerkoel CF,Gahl W,Markello T

更新日期：2012-04-01 00:00:00

abstract：:IL-12Rβ1 deficiency is an autosomal recessive disorder characterized by predisposition to recurrent and/or severe infections caused by otherwise poorly pathogenic mycobacteria and salmonella. IL-12Rβ1 is a receptor chain of both the IL-12 and the IL-23 receptor and deficiency of IL-12Rβ1 thus abolishes both IL-12 and ...

journal_title：Human mutation

authors： van de Vosse E,Haverkamp MH,Ramirez-Alejo N,Martinez-Gallo M,Blancas-Galicia L,Metin A,Garty BZ,Sun-Tan Ç,Broides A,de Paus RA,Keskin Ö,Çağdaş D,Tezcan I,Lopez-Ruzafa E,Aróstegui JI,Levy J,Espinosa-Rosales FJ,Sanal Ö,

更新日期：2013-10-01 00:00:00

abstract：:SNPs from the non-recombining part of the human Y chromosome (Y-SNPs) are informative to classify paternal lineages in forensic, genealogical, anthropological, and evolutionary studies. Although thousands of Y-SNPs were identified thus far, previous Y-SNP multiplex tools target only dozens of markers simultaneously, t...

journal_title：Human mutation

authors： Ralf A,van Oven M,Zhong K,Kayser M

更新日期：2015-01-01 00:00:00

abstract：:Two years after the first mutation on exon 7 in the carboxy-terminal part of the hinge domain (D) was reported (Behr and Loos 1992), we have identified the second mutation on exon 7 in patients with GRTH. Interestingly, our mutation it is not located in the two previously described "hot spot regions", but instead very...

journal_title：Human mutation

authors： Pohlenz J,Schönberger W,Wemme H,Winterpacht A,Wirth S,Zabel B

更新日期：1996-01-01 00:00:00

abstract：:The 22q11.2 deletion syndrome (22q11DS) affects 1:4,000 live births and presents with highly variable phenotype expressivity. In this study, we developed an analytical approach utilizing whole-genome sequencing (WGS) and integrative analysis to discover genetic modifiers. Our pipeline combined available tools in order...

journal_title：Human mutation

authors： Chung JH,Cai J,Suskin BG,Zhang Z,Coleman K,Morrow BE

更新日期：2015-08-01 00:00:00

abstract：:The aim of our study was to define mutations causing familial hypercholesterolemia (FH) phenotype in Czech hypercholesterolemic individuals. A combination of heteroduplex analysis, SSCP, DGGE, DNA sequencing and PCR/restriction analysis was used for this purpose. Molecular searching in the promoter region and coding s...

journal_title：Human mutation

authors： Kuhrová V,Francová H,Zapletalová P,Freiberger T,Fajkusová L,Hrabincová E,Slováková R,Kozák L

更新日期：2001-09-01 00:00:00