Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies.

abstract：:Familial hypercholesterolemia (FH) is an autosomal dominant disorder mostly caused by mutations in the LDLR gene. Although the detection of functional mutations in the LDLR gene provides an unequivocal diagnosis of the FH condition, there are many variants whose pathogenicity is still unknown. The aims of this study w...

journal_title：Human mutation

authors： Etxebarria A,Palacios L,Stef M,Tejedor D,Uribe KB,Oleaga A,Irigoyen L,Torres B,Ostolaza H,Martin C

更新日期：2012-01-01 00:00:00

abstract：:Germline mutations of the TBX5 gene were identified as the primary cause in up to 70% of patients with Holt-Oram syndrome (HOS), an autosomal dominant disorder characterized by malformations of the upper limbs and cardiac defects. Furthermore, somatic mutations of the TBX5 gene have been described in diseased heart ti...

journal_title：Human mutation

authors： Heinritz W,Shou L,Moschik A,Froster UG

更新日期：2005-10-01 00:00:00

abstract：:At least three different gene loci were recently shown to account for the long QT syndrome (LQTS), a monogenic disorder with altered myocardial repolarization and occurrence of life-threatening cardiac arrhythmias. We screened 44 unrelated probands for mutations of the gene encoding the cardiac potassium channel KVLQT...

journal_title：Human mutation

authors： Saarinen K,Swan H,Kainulainen K,Toivonen L,Viitasalo M,Kontula K

更新日期：1998-01-01 00:00:00

abstract：:Int22h1/Int22h2-mediated Xq28 duplication syndrome is a relatively new X-linked intellectual disability syndrome, arising from duplications of the subregion flanked by intron 22 homologous regions 1 and 2 on the q arm of chromosome X. Its primary manifestations include variable cognitive deficits, distinct facial dysm...

journal_title：Human mutation

authors： Ballout RA,Dickerson C,Wick MJ,Al-Sweel N,Openshaw AS,Srivastava S,Swanson LC,Bramswig NC,Kuechler A,Hong B,Fleming LR,Curry K,Robertson SP,Andersen EF,El-Hattab AW

更新日期：2020-07-01 00:00:00

abstract：:Rare, atypical, and undiagnosed autosomal-recessive disorders frequently occur in the offspring of consanguineous couples. Current routine diagnostic genetic tests fail to establish a diagnosis in many cases. We employed exome sequencing to identify the underlying molecular defects in patients with unresolved but puta...

journal_title：Human mutation

authors： Makrythanasis P,Nelis M,Santoni FA,Guipponi M,Vannier A,Béna F,Gimelli S,Stathaki E,Temtamy S,Mégarbané A,Masri A,Aglan MS,Zaki MS,Bottani A,Fokstuen S,Gwanmesia L,Aliferis K,Bustamante Eduardo M,Stamoulis G,Psoni S

更新日期：2014-10-01 00:00:00

abstract：:Bardet Biedl syndrome is a genetically heterogeneous ciliopathy with fourteen genes currently identified. To date, mutations in BBS7 and TTC8 (BBS8) were reported in 4.2% and 2.8% of BBS families respectively. We sequenced the coding regions of BBS7 and TTC8 in 35 BBS families of diverse ancestral backgrounds. In addi...

journal_title：Human mutation

authors： Bin J,Madhavan J,Ferrini W,Mok CA,Billingsley G,Héon E

更新日期：2009-07-01 00:00:00

abstract：:Mutations in the ribosomal protein (RP)S19 gene have been found in about 25% of the cases of Diamond-Blackfan anemia (DBA), a rare congenital hypoplastic anemia that includes variable physical malformations. Various mutations have been identified in the RPS19 gene, but no investigations regarding the effect of these a...

journal_title：Human mutation

authors： Chatr-Aryamontri A,Angelini M,Garelli E,Tchernia G,Ramenghi U,Dianzani I,Loreni F

更新日期：2004-12-01 00:00:00

abstract：:Impairment of translation initiation and its regulation within the integrated stress response (ISR) and related unfolded-protein response has been identified as a cause of several multisystemic syndromes. Here, we link MEHMO syndrome, whose genetic etiology was unknown, to this group of disorders. MEHMO is a rare X-li...

journal_title：Human mutation

authors： Skopkova M,Hennig F,Shin BS,Turner CE,Stanikova D,Brennerova K,Stanik J,Fischer U,Henden L,Müller U,Steinberger D,Leshinsky-Silver E,Bottani A,Kurdiova T,Ukropec J,Nyitrayova O,Kolnikova M,Klimes I,Borck G,Bahlo M,

更新日期：2017-04-01 00:00:00

abstract：:Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, and abnormally centralized nuclei. Autosomal dominant CNM is due to mutations in the large GTPase dynamin 2 (DNM2), a mechanochemical enzyme regulating cytoskele...

journal_title：Human mutation

authors： Böhm J,Biancalana V,Dechene ET,Bitoun M,Pierson CR,Schaefer E,Karasoy H,Dempsey MA,Klein F,Dondaine N,Kretz C,Haumesser N,Poirson C,Toussaint A,Greenleaf RS,Barger MA,Mahoney LJ,Kang PB,Zanoteli E,Vissing J,Wittin

更新日期：2012-06-01 00:00:00

abstract：:Symphalangism (SYM or SYM1) is an autosomal dominant disorder characterized by multiple joint fusions. The disease is caused by mutations of the NOG gene, that maps to chromosome 17q22. So far, only six independent NOG mutations have been identified. We have analysed an Italian family in which father and son had bilat...

journal_title：Human mutation

authors： Mangino M,Flex E,Digilio MC,Giannotti A,Dallapiccola B

更新日期：2002-03-01 00:00:00

abstract：:The genetic polymorphism of the thiopurine S-methyltransferase, TPMT, comprises at least 21 alleles causing three distinct drug metabolism phenotypes termed normal/high, intermediate, and deficient methylators. In consequence, adverse drug reactions may occur if standard doses of thiopurines are applied routinely. Gen...

journal_title：Human mutation

authors： Schaeffeler E,Eichelbaum M,Reinisch W,Zanger UM,Schwab M

更新日期：2006-09-01 00:00:00

abstract：:The two porphyrias, familial porphyria cutanea tarda (fPCT) and hepatoerythropoietic porphyria (HEP), are associated with mutations in the gene encoding the enzyme uroporphyrinogen decarboxylase (UROD). Several mutations, most of which are private, have been identified in HEP and fPCT patients, confirming the heteroge...

journal_title：Human mutation

authors： Christiansen L,Ged C,Hombrados I,Brons-Poulsen J,Fontanellas A,de Verneuil H,Hørder M,Petersen NE

更新日期：1999-01-01 00:00:00

abstract：:NKX2-1 (NK2 homeobox 1) is a critical regulator of transcription for the surfactant protein (SP)-B and -C genes (SFTPB and SFTPC, respectively). We identified and functionally characterized two new de novo NKX2-1 mutations c.493C>T (p.R165W) and c.786_787del2 (p.L263fs) in infants with closely similar severe interstit...

journal_title：Human mutation

authors： Guillot L,Carré A,Szinnai G,Castanet M,Tron E,Jaubert F,Broutin I,Counil F,Feldmann D,Clement A,Polak M,Epaud R

更新日期：2010-02-01 00:00:00

abstract：:Congenital insensitivity to pain with anhidrosis (CIPA), also referred to as hereditary sensory and autonomic neuropathy type IV (HSAN-IV), is an autosomal recessive hereditary disorder characterized by recurrent episodic fever, anhidrosis (inability to sweat), absence of reaction to noxious stimuli, self-mutilating b...

journal_title：Human mutation

authors： Indo Y

更新日期：2001-12-01 00:00:00

abstract：:A tiling X-chromosome-specific genomic array with a theoretical resolution of 80 kb was developed to screen patients with idiopathic mental retardation (MR) for submicroscopic copy number differences. Four patients with aberrations previously detected at lower resolution were first analyzed. This facilitated delineati...

journal_title：Human mutation

authors： Froyen G,Van Esch H,Bauters M,Hollanders K,Frints SG,Vermeesch JR,Devriendt K,Fryns JP,Marynen P

更新日期：2007-10-01 00:00:00

abstract：:MED13L is a component subunit of the Mediator complex, an important regulator of transcription that is highly conserved across eukaryotes. Here, we report MED13L disruption in a translocation t(12;19) breakpoint of a patient with Pierre-Robin syndrome, moderate intellectual disability, craniofacial anomalies, and musc...

journal_title：Human mutation

authors： Utami KH,Winata CL,Hillmer AM,Aksoy I,Long HT,Liany H,Chew EG,Mathavan S,Tay SK,Korzh V,Sarda P,Davila S,Cacheux V

更新日期：2014-11-01 00:00:00

abstract：:The human SHOX database has recently been established to provide clinicians and scientists access to a central source of information about all known SHOX mutations associated with short stature phenotypes such as idiopathic short stature, Lèri-Weill dyschondrosteosis, Langer syndrome, and Turner syndrome. So far, the ...

journal_title：Human mutation

authors： Niesler B,Fischer C,Rappold GA

更新日期：2002-11-01 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：:The abundantly expressed calcium/calmodulin-dependent protein kinase II (CAMK2), alpha (CAMK2A), and beta (CAMK2B) isoforms are essential for learning and memory formation. Recently, a de novo candidate mutation (p.Arg292Pro) in the gamma isoform of CAMK2 (CAMK2G) was identified in a patient with severe intellectual d...

journal_title：Human mutation

authors： Proietti Onori M,Koopal B,Everman DB,Worthington JD,Jones JR,Ploeg MA,Mientjes E,van Bon BW,Kleefstra T,Schulman H,Kushner SA,Küry S,Elgersma Y,van Woerden GM

更新日期：2018-12-01 00:00:00

abstract：:Mutations in the SLC22A5 gene, which encodes for the plasma membrane carnitine transporter OCTN2, cause primary carnitine deficiency (PCD). After our first report of OCTN2 mutations in Chinese, three more Chinese PCD patients were identified. The parents of these families were non-consanguineous and these families wer...

journal_title：Human mutation

authors： Tang NL,Hwu WL,Chan RT,Law LK,Fung LM,Zhang WM

更新日期：2002-09-01 00:00:00

abstract：:Mouse phenotype data represents a valuable resource for the identification of disease-associated genes, especially where the molecular basis is unknown and there is no clue to the candidate gene's function, pathway involvement or expression pattern. However, until recently these data have not been systematically used ...

journal_title：Human mutation

authors： Chen CK,Mungall CJ,Gkoutos GV,Doelken SC,Köhler S,Ruef BJ,Smith C,Westerfield M,Robinson PN,Lewis SE,Schofield PN,Smedley D

更新日期：2012-05-01 00:00:00

abstract：:A strategy is described that exploits allele-specific amplification (ASA-PCR) and electrochemiluminescence (ECL) detection technology to rapidly and cheaply screen large numbers of DNAs arranged in pooled matrices in order to identify individual nucleotide sequence variants. To demonstrate this strategy, a large genom...

journal_title：Human mutation

authors： Bergen A,Wang CY,Nakhai B,Goldman D

更新日期：1996-01-01 00:00:00

abstract：:Exome sequencing has been widely used to identify the genetic variants underlying human genetic disorders for clinical diagnoses, but the identification of pathogenic sequence variants among the huge amounts of benign ones is complicated and challenging. Here, we describe a new Web server named mirVAFC for pathogenic ...

journal_title：Human mutation

authors： Li Z,Liu Z,Jiang Y,Chen D,Ran X,Sun ZS,Wu J

更新日期：2017-01-01 00:00:00

abstract：:The identification of mutations in the BRCA1 gene poses difficulties in achieving a screening outcome that satisfies the twin needs of speed and accuracy. These needs must also take into account the patient's family history and the statistical evaluation of the probability of detecting a mutation. Given the above, we ...

journal_title：Human mutation

authors： Hegde MR,Chong B,Fawkner MJ,Leary J,Shelling AN,Culling B,Winship I,Love DR

更新日期：2000-11-01 00:00:00

abstract：:Beta-thalassemia major is one of the commonest genetic disorders in South-East Asia. The spectrum of beta-thalassemia mutations in the various ethnic sub-populations on the island of Borneo is unknown. We studied 20 Dusun children from the East Malaysian state of Sabah (North Borneo) with a severe beta-thalassemia maj...

journal_title：Human mutation

authors： Thong MK,Rudzki Z,Hall J,Tan JA,Chan LL,Yap SF

更新日期：1999-01-01 00:00:00

abstract：:Leber hereditary optic neuropathy (LHON) is a maternally inherited eye disease most commonly caused by mitochondrial DNA (mtDNA) point mutation at position 11778, 3460, or 14484. Approximately 14% of families show heteroplasmy for the pathogenic mutations but little is known about the mutational burden in different ti...

journal_title：Human mutation

authors： Juvonen V,Nikoskelainen E,Lamminen T,Penttinen M,Aula P,Savontaus ML

更新日期：1997-01-01 00:00:00

abstract：:D-glyceric aciduria is a rare inborn error of serine and fructose metabolism that was first described in 1974. Most affected individuals have presented with neurological symptoms. The molecular basis of D-glyceric aciduria is largely unknown; possible causes that have been discussed are deficiencies of D-glycerate deh...

journal_title：Human mutation

authors： Sass JO,Fischer K,Wang R,Christensen E,Scholl-Bürgi S,Chang R,Kapelari K,Walter M

更新日期：2010-12-01 00:00:00

abstract：:A broad region of chromosome 10 (chr10) has engendered continued interest in the etiology of late-onset Alzheimer Disease (LOAD) from both linkage and candidate gene studies. However, there is a very extensive heterogeneity on chr10. We converged linkage analysis and gene expression data using the concept of genomic c...

journal_title：Human mutation

authors： Liang X,Slifer M,Martin ER,Schnetz-Boutaud N,Bartlett J,Anderson B,Züchner S,Gwirtsman H,Gilbert JR,Pericak-Vance MA,Haines JL

更新日期：2009-03-01 00:00:00

abstract：:The recommendations for the description of sequence variants from the Human Genome Variation Society (HGVS) were published in 2000. Over the years, the recommendations became widely adopted, especially in human clinical genetics and DNA laboratory reporting. As part of a testing scheme performed by the United Kingdom ...

journal_title：Human mutation

authors： Deans ZC,Fairley JA,den Dunnen JT,Clark C

更新日期：2016-06-01 00:00:00

abstract：:Most of the mutations causing deficiency of the pyruvate dehydrogenase (PDH) complex are in the X-linked E1 alpha gene. We have developed a rapid screening method for the detection of mutations in this gene using reverse transcription of total RNA, polymerase chain reaction amplification of the whole coding region of ...

journal_title：Human mutation

authors： Lissens W,De Meirleir L,Seneca S,Benelli C,Marsac C,Poll-The BT,Briones P,Ruitenbeek W,van Diggelen O,Chaigne D,Ramaekers V,Liebaers I

更新日期：1996-01-01 00:00:00