Molecular basis for HbH disease in Italy: geographical distribution of deletional and nondeletional alpha-thalassemia haplotypes.

abstract：:Hereditary gingival fibromatosis (HGF) is a rare, autosomal dominant form of gingival overgrowth. Affected individuals have a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa. Genetic loci for autosomal dominant forms of HGF have been localized to chromosome 2p21-p22 (HGF1...

journal_title：American journal of human genetics

authors： Hart TC,Zhang Y,Gorry MC,Hart PS,Cooper M,Marazita ML,Marks JM,Cortelli JR,Pallos D

更新日期：2002-04-01 00:00:00

abstract：:Plasma DNA fragmentomics is an emerging area in cell-free DNA diagnostics and research. In murine models, it has been shown that the extracellular DNase, DNASE1L3, plays a role in the fragmentation of plasma DNA. In humans, DNASE1L3 deficiency causes familial monogenic systemic lupus erythematosus with childhood onset...

journal_title：American journal of human genetics

authors： Chan RWY,Serpas L,Ni M,Volpi S,Hiraki LT,Tam LS,Rashidfarrokhi A,Wong PCH,Tam LHP,Wang Y,Jiang P,Cheng ASH,Peng W,Han DSC,Tse PPP,Lau PK,Lee WS,Magnasco A,Buti E,Sisirak V,AlMutairi N,Chan KCA,Chiu RWK,Reizi

更新日期：2020-11-05 00:00:00

abstract：:A non-Jewish family is presented in which the genes for Tay-Sachs disease and Sandhoff disease are segregating. Individuals heterozygous for both alleles have low serum and white cell total hexosaminidase levels together with a proportion of heat-labile hexosaminidase A (HEX A) which falls in the normal range. The ind...

journal_title：American journal of human genetics

authors： Lane AB,Young E,Jenkins T

更新日期：1980-11-01 00:00:00

abstract：:The Genes for Good study uses social media to engage a large, diverse participant pool in genetics research and education. Health history and daily tracking surveys are administered through a Facebook application, and participants who complete a minimum number of surveys are mailed a saliva sample kit ("spit kit") to ...

journal_title：American journal of human genetics

authors： Brieger K,Zajac GJM,Pandit A,Foerster JR,Li KW,Annis AC,Schmidt EM,Clark CP,McMorrow K,Zhou W,Yang J,Kwong AM,Boughton AP,Wu J,Scheller C,Parikh T,de la Vega A,Brazel DM,Frieser M,Rea-Sandin G,Fritsche LG,Vrieze

更新日期：2019-07-03 00:00:00

abstract：:The highly polymorphic locus D2S3 is revealed by three single-copy probes from cosmid C1-5. These probes, 1-30, 1-32, and 2-96, collectively reveal seven restriction fragment length polymorphisms. Fifty-three of 56 unrelated individuals (93%) were heterozygous at one or more of the seven loci, making the compound locu...

journal_title：American journal of human genetics

authors： Litt M,Bruns GA,Sheehy R,Magenis RE

更新日期：1986-03-01 00:00:00

abstract：:Dominant congenital spinal muscular atrophy (DCSMA) is a disorder of developing anterior horn cells and shows lower-limb predominance and clinical overlap with hereditary spastic paraplegia (HSP), a lower-limb-predominant disorder of corticospinal motor neurons. We have identified four mutations in bicaudal D homolog ...

journal_title：American journal of human genetics

authors： Oates EC,Rossor AM,Hafezparast M,Gonzalez M,Speziani F,MacArthur DG,Lek M,Cottenie E,Scoto M,Foley AR,Hurles M,Houlden H,Greensmith L,Auer-Grumbach M,Pieber TR,Strom TM,Schule R,Herrmann DN,Sowden JE,Acsadi G,Mene

更新日期：2013-06-06 00:00:00

abstract：:Synaptophysin is an integral membrane protein of small synaptic vesicles in brain and endocrine cells. We have determined the structure and organization of the human synaptophysin gene and have established the chromosome localizations in man and mouse. Analysis of a cosmid clone containing the human synaptophysin gene...

journal_title：American journal of human genetics

authors： Ozçelik T,Lafreniere RG,Archer BT 3rd,Johnston PA,Willard HF,Francke U,Südhof TC

更新日期：1990-09-01 00:00:00

abstract：:Craniofrontonasal syndrome (CFNS) is an X-linked disorder that exhibits a paradoxical sex reversal in phenotypic severity: females characteristically have frontonasal dysplasia, craniosynostosis, and additional minor malformations, but males are usually mildly affected with hypertelorism only. Despite this, males appe...

journal_title：American journal of human genetics

authors： Twigg SR,Matsumoto K,Kidd AM,Goriely A,Taylor IB,Fisher RB,Hoogeboom AJ,Mathijssen IM,Lourenco MT,Morton JE,Sweeney E,Wilson LC,Brunner HG,Mulliken JB,Wall SA,Wilkie AO

更新日期：2006-06-01 00:00:00

abstract：:Allele-specific replication differences have been observed in imprinted chromosomal regions. We have exploited this characteristic of an imprinted region by using FISH at D15S9 and SNRPN (small nuclear ribonucleo protein N) on interphase nuclei to distinguish between Angelman and Prader-Willi syndrome patient samples ...

journal_title：American journal of human genetics

authors： White LM,Rogan PK,Nicholls RD,Wu BL,Korf B,Knoll JH

更新日期：1996-08-01 00:00:00

abstract：:Genetic and environmental influences on systolic blood pressure (SBP), diastolic blood pressure (DBP), and mean arterial blood pressure (MBP) were examined in 371 French-Canadian families by using path analysis. Familial environment was estimated with environmental indices constructed from as many as 14 (of a pool of ...

journal_title：American journal of human genetics

authors： Pérusse L,Rice T,Bouchard C,Vogler GP,Rao DC

更新日期：1989-08-01 00:00:00

abstract：:Transthyretin (TTR) (122 Val----Ile), caused by a point mutation which destroys a MaeIII restriction site, is associated with cardiac amyloidosis in black individuals. To estimate the frequency of the MaeIII(-) gene in the black population without overt cardiac disease, DNA from 177 black individuals without amyloidos...

journal_title：American journal of human genetics

authors： Jacobson DR,Reveille JD,Buxbaum JN

更新日期：1991-07-01 00:00:00

abstract：:X-linked retinitis pigmentosa (XLRP) is a clinically and genetically heterogeneous degenerative disease of the retina. At least five loci have been mapped for XLRP; of these, RP2 and RP3 account for 10%-20% and 70%-90% of genetically identifiable disease, respectively. However, mutations in the respective genes, RP2 a...

journal_title：American journal of human genetics

authors： Breuer DK,Yashar BM,Filippova E,Hiriyanna S,Lyons RH,Mears AJ,Asaye B,Acar C,Vervoort R,Wright AF,Musarella MA,Wheeler P,MacDonald I,Iannaccone A,Birch D,Hoffman DR,Fishman GA,Heckenlively JR,Jacobson SG,Sieving PA

更新日期：2002-06-01 00:00:00

abstract：:Multiminicore disease (MmD) is an autosomal recessive congenital myopathy characterized by the presence of multiple, short core lesions (known as "minicores") in most muscle fibers. MmD is a clinically heterogeneous condition, in which four subgroups have been distinguished. Homozygous RYR1 mutations have been recentl...

journal_title：American journal of human genetics

authors： Ferreiro A,Quijano-Roy S,Pichereau C,Moghadaszadeh B,Goemans N,Bönnemann C,Jungbluth H,Straub V,Villanova M,Leroy JP,Romero NB,Martin JJ,Muntoni F,Voit T,Estournet B,Richard P,Fardeau M,Guicheney P

更新日期：2002-10-01 00:00:00

abstract：:The affected sib-pair method has been used to investigate the mode of inheritance, and to estimate the "disease" allele frequency, for a number of HLA-associated diseases. One of the assumptions of the original sib-pair method is that the disease confers no selective disadvantage on affected individuals. This is obvio...

journal_title：American journal of human genetics

authors： Payami H,Thomson G,Louis EJ

更新日期：1984-03-01 00:00:00

abstract：:Variant late infantile neuronal ceroid lipofuscinosis (vLINCL) is an autosomal recessive progressive encephalopathy of childhood enriched in the western part of Finland, with a local incidence of 1 in 1500. We recently assigned the locus for vLINCL, CLN5, to 13q21.1-q32. In the present study, the haplotype analysis of...

journal_title：American journal of human genetics

authors： Varilo T,Savukoski M,Norio R,Santavuori P,Peltonen L,Järvelä I

更新日期：1996-03-01 00:00:00

abstract：:The cloning of the CFTR gene has made it technically possible to avert the unwanted birth of a child with cystic fibrosis (CF). Several large trials offering prenatal CF carrier screening suggest that such screening is practical and that identified carriers generally use the information obtained. Therefore, a critical...

journal_title：American journal of human genetics

authors： Rowley PT,Loader S,Kaplan RM

更新日期：1998-10-01 00:00:00

abstract：:We previously reported the finding of phytosterolemia, xanthomatosis, and hyperapobetalipoproteinemia (hyperapoB) in five siblings in a large Amish pedigree ascertained through a 13-year-old boy who died suddenly from advanced coronary atherosclerosis. Here, we present further analyses of the plasma levels of the plan...

journal_title：American journal of human genetics

authors： Beaty TH,Kwiterovich PO Jr,Khoury MJ,White S,Bachorik PS,Smith HH,Teng B,Sniderman A

更新日期：1986-04-01 00:00:00

abstract：:Pelizaeus-Merzbacher disease (PMD) is an X-linked dysmyelinating disorder caused by abnormalities in the proteolipid protein (PLP) gene, which is essential for oligodendrocyte differentiation and CNS myelin formation. Although linkage analysis has shown the homogeneity at the PLP locus in patients with PMD, exonic mut...

journal_title：American journal of human genetics

authors： Inoue K,Osaka H,Sugiyama N,Kawanishi C,Onishi H,Nezu A,Kimura K,Yamada Y,Kosaka K

更新日期：1996-07-01 00:00:00

abstract：:Although balanced translocations are among the most common human chromosomal aberrations, the constitutional t(11;22)(q23;q11) is the only known recurrent non-Robertsonian translocation. Evidence indicates that de novo formation of the t(11;22) occurs during meiosis. To test the hypothesis that spatial proximity of ch...

journal_title：American journal of human genetics

authors： Ashley T,Gaeth AP,Inagaki H,Seftel A,Cohen MM,Anderson LK,Kurahashi H,Emanuel BS

更新日期：2006-09-01 00:00:00

abstract：:On the basis of the known amino acid sequence of statherin, a human salivary protein, mixed synthetic oligonucleotides were synthesized and used to screen a cDNA library constructed from human parotid-gland mRNA. A cDNA clone coding for statherin was isolated from this library and has been completely sequenced. The cD...

journal_title：American journal of human genetics

authors： Sabatini LM,Carlock LR,Johnson GW,Azen EA

更新日期：1987-12-01 00:00:00

abstract：:Benign infantile familial convulsions is an autosomal dominant disorder characterized by nonfebrile seizures, with the first attack occurring at age 3-12 mo. It is one of the rare forms of epilepsy that are inherited as monogenic Mendelian traits, thus providing a powerful tool for mapping genes involved in epileptic ...

journal_title：American journal of human genetics

authors： Szepetowski P,Rochette J,Berquin P,Piussan C,Lathrop GM,Monaco AP

更新日期：1997-10-01 00:00:00

abstract：:In humans, deviations from a 1:1 male:female ratio have been identified in both chromosomally normal and trisomic live births: among normal newborns there is a slight excess of males, among trisomy 18 live borns a large excess of females, and among trisomy 21 live borns an excess of males. These differences could aris...

journal_title：American journal of human genetics

authors： Griffin DK,Abruzzo MA,Millie EA,Feingold E,Hassold TJ

更新日期：1996-11-01 00:00:00

abstract：:A wide variety of mutations in the parkin gene, including exon deletions and duplications, as well as point mutations, result in autosomal recessive early-onset parkinsonism. Interestingly, several of these anomalies were found repeatedly in unrelated patients and may therefore result from recurrent, de novo mutationa...

journal_title：American journal of human genetics

authors： Periquet M,Lücking C,Vaughan J,Bonifati V,Dürr A,De Michele G,Horstink M,Farrer M,Illarioshkin SN,Pollak P,Borg M,Brefel-Courbon C,Denefle P,Meco G,Gasser T,Breteler MM,Wood N,Agid Y,Brice A,French Parkinson's Disea

更新日期：2001-03-01 00:00:00

abstract：:The hereditary spastic paraplegias (HSPs) are genetically heterogeneous disorders characterized by progressive lower-extremity weakness and spasticity. The molecular pathogenesis is poorly understood. We report discovery of a dominant negative mutation in the NIPA1 gene in a kindred with autosomal dominant HSP (ADHSP)...

journal_title：American journal of human genetics

authors： Rainier S,Chai JH,Tokarz D,Nicholls RD,Fink JK

更新日期：2003-10-01 00:00:00

abstract：:We report here the characterization of a large Chinese family with maternally transmitted aminoglycoside-induced and nonsyndromic deafness. In the absence of aminoglycosides, some matrilineal relatives in this family exhibited late-onset/progressive deafness, with a wide range of severity and age at onset. Notably, th...

journal_title：American journal of human genetics

authors： Zhao H,Li R,Wang Q,Yan Q,Deng JH,Han D,Bai Y,Young WY,Guan MX

更新日期：2004-01-01 00:00:00

abstract：:To identify genetic factors contributing to type 2 diabetes (T2D), we performed large-scale meta-analyses by using a custom ∼50,000 SNP genotyping array (the ITMAT-Broad-CARe array) with ∼2000 candidate genes in 39 multiethnic population-based studies, case-control studies, and clinical trials totaling 17,418 cases an...

journal_title：American journal of human genetics

authors： Saxena R,Elbers CC,Guo Y,Peter I,Gaunt TR,Mega JL,Lanktree MB,Tare A,Castillo BA,Li YR,Johnson T,Bruinenberg M,Gilbert-Diamond D,Rajagopalan R,Voight BF,Balasubramanyam A,Barnard J,Bauer F,Baumert J,Bhangale T,Böh

更新日期：2012-03-09 00:00:00

abstract：:Charcot-Marie-Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA-V) are axonal peripheral neuropathies inherited in an autosomal dominant fashion. Our previous genetic and physical mapping efforts localized the responsible gene(s) to a well-defined region on human chromosome 7p. Here, we rep...

journal_title：American journal of human genetics

authors： Antonellis A,Ellsworth RE,Sambuughin N,Puls I,Abel A,Lee-Lin SQ,Jordanova A,Kremensky I,Christodoulou K,Middleton LT,Sivakumar K,Ionasescu V,Funalot B,Vance JM,Goldfarb LG,Fischbeck KH,Green ED

更新日期：2003-05-01 00:00:00

abstract：:Gap junctions are assemblies of intercellular channels that regulate a variety of physiologic and developmental processes through the exchange of small ions and signaling molecules. These channels consist of connexin family proteins that allow for diversity of channel composition and conductance properties. The human ...

journal_title：American journal of human genetics

authors： Paznekas WA,Boyadjiev SA,Shapiro RE,Daniels O,Wollnik B,Keegan CE,Innis JW,Dinulos MB,Christian C,Hannibal MC,Jabs EW

更新日期：2003-02-01 00:00:00

abstract：:Van der Woude syndrome (VWS) is an autosomal dominant disorder in which affected individuals have one or more of the following manifestations: cleft lip, cleft palate, hypodontia, or paramedian lower-lip pits. VWS is a well-characterized example of a single-gene abnormality that disturbs normal craniofacial morphogene...

journal_title：American journal of human genetics

authors： Murray JC,Nishimura DY,Buetow KH,Ardinger HH,Spence MA,Sparkes RS,Falk RE,Falk PM,Gardner RJ,Harkness EM

更新日期：1990-03-01 00:00:00

abstract：:Eighty unrelated individuals with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) were found to have deletions in the major deletion-rich region of the DMD locus. This region includes the last five exons detected by cDNA5b-7, all exons detected by cDNA8, and the first two exons detected by cDNA9. ...

journal_title：American journal of human genetics

authors： Gillard EF,Chamberlain JS,Murphy EG,Duff CL,Smith B,Burghes AH,Thompson MW,Sutherland J,Oss I,Bodrug SE

更新日期：1989-10-01 00:00:00