当前位置： SCI文献检索 > AMERICAN JOURNAL OF HUMAN GENETICS期刊下所有文献 > Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.

Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.

Abstract：

:Isolated or nonsyndromic cleft lip with or without cleft palate (CL/P) is a common birth defect with a complex etiology. A 10-cM genome scan of 388 extended multiplex families with CL/P from seven diverse populations (2,551 genotyped individuals) revealed CL/P genes in six chromosomal regions, including a novel region at 9q21 (heterogeneity LOD score [HLOD]=6.6). In addition, meta-analyses with the addition of results from 186 more families (six populations; 1,033 genotyped individuals) showed genomewide significance for 10 more regions, including another novel region at 2q32-35 (P=.0004). These are the first genomewide significant linkage results ever reported for CL/P, and they represent an unprecedented demonstration of the power of linkage analysis to detect multiple genes simultaneously for a complex disorder.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Marazita ML,Murray JC,Lidral AC,Arcos-Burgos M,Cooper ME,Goldstein T,Maher BS,Daack-Hirsch S,Schultz R,Mansilla MA,Field LL,Liu YE,Prescott N,Malcolm S,Winter R,Ray A,Moreno L,Valencia C,Neiswanger K,Wyszynski DF,

doi

10.1086/422475

subject

Has Abstract

pub_date

2004-08-01 00:00:00

pages

161-73

issue

2

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)62400-8

journal_volume

75

pub_type

杂志文章,meta分析

相关文献

AMERICAN JOURNAL OF HUMAN GENETICS文献大全
  • Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination.

    abstract：:Approximately 5% of patients with neurofibromatosis type 1 (NF1) exhibit gross deletions that encompass the NF1 gene and its flanking regions. The breakpoints of the common 1.4-Mb (type 1) deletions are located within low-copy repeats (NF1-REPs) and cluster within a 3.4-kb hotspot of nonallelic homologous recombinatio...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/522089

    authors： Steinmann K,Cooper DN,Kluwe L,Chuzhanova NA,Senger C,Serra E,Lazaro C,Gilaberte M,Wimmer K,Mautner VF,Kehrer-Sawatzki H

    更新日期：2007-12-01 00:00:00

  • Genetic linkage of hyper-IgE syndrome to chromosome 4.

    abstract：:The hyper-IgE syndrome (HIES) is a rare primary immunodeficiency characterized by recurrent skin abscesses, pneumonia, and highly elevated levels of serum IgE. HIES is now recognized as a multisystem disorder, with nonimmunologic abnormalities of the dentition, bones, and connective tissue. HIES can be transmitted as ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302547

    authors： Grimbacher B,Schäffer AA,Holland SM,Davis J,Gallin JI,Malech HL,Atkinson TP,Belohradsky BH,Buckley RH,Cossu F,Español T,Garty BZ,Matamoros N,Myers LA,Nelson RP,Ochs HD,Renner ED,Wellinghausen N,Puck JM

    更新日期：1999-09-01 00:00:00

  • Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.

    abstract：:Keratitis-ichthyosis-deafness syndrome (KID) is a rare ectodermal dysplasia characterized by vascularizing keratitis, profound sensorineural hearing loss (SNHL), and progressive erythrokeratoderma, a clinical triad that indicates a failure in development and differentiation of multiple stratifying epithelia. Here, we ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/339986

    authors： Richard G,Rouan F,Willoughby CE,Brown N,Chung P,Ryynänen M,Jabs EW,Bale SJ,DiGiovanna JJ,Uitto J,Russell L

    更新日期：2002-05-01 00:00:00

  • The effects of chorion type on variation in IQ in the NCPP twin population.

    abstract：:The 7-year IQ scores (WISC) of 116 white and 143 black nonmalformed twins of known zygosity and placental type were ascertained from the NINCDS Collaborative Perinatal Project (NCPP). The type of chorion and zygosity had no significant effect on the mean IQ or among-pair variation. In white monozygotic twins, however,...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Melnick M,Myrianthopoulos NC,Christian JC

    更新日期：1978-07-01 00:00:00

  • Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.

    abstract：:Hereditary spastic paraplegia (HSP) is a genetically and clinically heterogeneous disease characterized by spasticity and weakness of the lower limbs with or without additional neurological symptoms. Although more than 70 genes and genetic loci have been implicated in HSP, many families remain genetically undiagnosed,...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2016.04.002

    authors： Gan-Or Z,Bouslam N,Birouk N,Lissouba A,Chambers DB,Vérièpe J,Androschuk A,Laurent SB,Rochefort D,Spiegelman D,Dionne-Laporte A,Szuto A,Liao M,Figlewicz DA,Bouhouche A,Benomar A,Yahyaoui M,Ouazzani R,Yoon G,Dupré N,

    更新日期：2016-05-05 00:00:00

  • Linkage mapping of a severe X-linked mental retardation syndrome.

    abstract：:A four-generation Swedish family with a new type of X-linked mental retardation syndrome was recently reported by Gustavson et al. The complex syndrome includes microcephaly, severe mental retardation, optical atrophy with decreased vision or blindness, severe hearing defect, characteristic facial features, spasticity...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Malmgren H,Sundvall M,Dahl N,Gustavson KH,Annerén G,Wadelius C,Steén-Bondeson ML,Pettersson U

    更新日期：1993-06-01 00:00:00

  • Spin label electron paramagnetic resonance (EPR) studies of Huntington disease erythrocyte membranes.

    abstract：:Several spin-label electron paramagnetic resonance (EPR) studies of red cell membranes appear to show abnormalities in some Huntington disease (HD) patients, but not in others. Both studies measure the W/S ratios, presumably under similar conditions, but have different results. We have studied the W/S ratio in some de...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Fung LW,Ostrowski MS

    更新日期：1982-05-01 00:00:00

  • Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.

    abstract：:Interleukin-12 (IL12) is a cytokine that is secreted by activated phagocytes and dendritic cells and that induces interferon-gamma production by natural-killer and T lymphocytes. It consists of two subunits, p35 and p40, which are encoded by IL12A and IL12B, respectively. The first reported patient with a genetic cyto...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/338625

    authors： Picard C,Fieschi C,Altare F,Al-Jumaah S,Al-Hajjar S,Feinberg J,Dupuis S,Soudais C,Al-Mohsen IZ,Génin E,Lammas D,Kumararatne DS,Leclerc T,Rafii A,Frayha H,Murugasu B,Wah LB,Sinniah R,Loubser M,Okamoto E,Al-Ghonaium

    更新日期：2002-02-01 00:00:00

  • Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility.

    abstract：:We recently reported that a sequence variant in the cell-cycle-checkpoint kinase CHEK2 (CHEK2 1100delC) is a low-penetrance breast cancer-susceptibility allele in noncarriers of BRCA1 or BRCA2 mutations. To investigate whether other CHEK2 variants confer susceptibility to breast cancer, we screened the full CHEK2 codi...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/373965

    authors： Schutte M,Seal S,Barfoot R,Meijers-Heijboer H,Wasielewski M,Evans DG,Eccles D,Meijers C,Lohman F,Klijn J,van den Ouweland A,Futreal PA,Nathanson KL,Weber BL,Easton DF,Stratton MR,Rahman N,Breast Cancer Linkage Consortiu

    更新日期：2003-04-01 00:00:00

  • Isolation and regional localization of DNA segments revealing polymorphic loci from human chromosome 13.

    abstract：:A recombinant DNA library enriched for portions of human chromosome 13 has been constructed from a hamster-human somatic cell hybrid that contained human chromosomes 13, 12, and 6p. A total of 733 phages were identified that contain human DNA inserts, and 46 single-copy subfragments have been derived and used as probe...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Cavenee W,Leach R,Mohandas T,Pearson P,White R

    更新日期：1984-01-01 00:00:00

  • Genomic disorders on 22q11.

    abstract：:The 22q11 region is involved in chromosomal rearrangements that lead to altered gene dosage, resulting in genomic disorders that are characterized by mental retardation and/or congenital malformations. Three such disorders-cat-eye syndrome (CES), der(22) syndrome, and velocardiofacial syndrome/DiGeorge syndrome (VCFS/...

    journal_title：American journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1086/340363

    authors： McDermid HE,Morrow BE

    更新日期：2002-05-01 00:00:00

  • The affected sib method. III. Selection and recombination.

    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

    pub_type： 杂志文章

    doi：

    authors： Payami H,Thomson G,Louis EJ

    更新日期：1984-03-01 00:00:00

  • Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.

    abstract：:Many individuals with abnormalities of mitochondrial respiratory chain complex III remain genetically undefined. Here, we report mutations (c.288G>T [p.Trp96Cys] and c.643C>T [p.Leu215Phe]) in CYC1, encoding the cytochrome c1 subunit of complex III, in two unrelated children presenting with recurrent episodes of ketoa...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2013.06.015

    authors： Gaignard P,Menezes M,Schiff M,Bayot A,Rak M,Ogier de Baulny H,Su CH,Gilleron M,Lombes A,Abida H,Tzagoloff A,Riley L,Cooper ST,Mina K,Sivadorai P,Davis MR,Allcock RJ,Kresoje N,Laing NG,Thorburn DR,Slama A,Christo

    更新日期：2013-08-08 00:00:00

  • Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis.

    abstract：:X-linked ichthyosis (XLI) is an inborn error of metabolism caused by steroid sulfatase (STS) deficiency. In more than 80% of XLI patients the enzyme deficiency is due to large deletions involving the entire STS gene and flanking sequences. However, some patients with the classical XLI phenotype and complete STS defici...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Basler E,Grompe M,Parenti G,Yates J,Ballabio A

    更新日期：1992-03-01 00:00:00

  • Power studies for the transmission/disequilibrium tests with multiple alleles.

    abstract：:Case-control studies compare marker-allele distributions in affected and unaffected individuals, and significant results suggest linkage but may simply reflect population structure. For markers with m alleles (m > or = 2), a McNemar-like statistic, I, estimates the level of population association between marker and di...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Kaplan NL,Martin ER,Weir BS

    更新日期：1997-03-01 00:00:00

  • Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.

    abstract：:Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct neurobehavioral disorders that most often arise from a 4-Mb deletion of chromosome 15q11-q13 during paternal or maternal gametogenesis, respectively. At a de novo frequency of approximately.67-1/10,000 births, these deletions represent a common struct...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302510

    authors： Amos-Landgraf JM,Ji Y,Gottlieb W,Depinet T,Wandstrat AE,Cassidy SB,Driscoll DJ,Rogan PK,Schwartz S,Nicholls RD

    更新日期：1999-08-01 00:00:00

  • Characterization of rapidly adhering amniotic fluid cells by combined immunofluorescence and phagocytosis assays.

    abstract：:Culture of human amniotic-fluid cells from cases of fetal neural tube defects produces a population of rapidly adhering cells that were initially thought to be macrophages and later interpreted to be of neural origin. In this study double and triple labeling systems for the simultaneous detection of glial and macropha...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Polgár K,Adány R,Abel G,Kappelmayer J,Muszbek L,Papp Z

    更新日期：1989-11-01 00:00:00

  • Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.

    abstract：:Kohlschütter-Tönz syndrome (KTS) is an autosomal-recessive disease characterized by the combination of epilepsy, psychomotor regression, and amelogenesis imperfecta. The molecular basis has not yet been elucidated. Here, we report that KTS is caused by mutations in ROGDI. Using a combination of autozygosity mapping an...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2012.02.012

    authors： Schossig A,Wolf NI,Fischer C,Fischer M,Stocker G,Pabinger S,Dander A,Steiner B,Tönz O,Kotzot D,Haberlandt E,Amberger A,Burwinkel B,Wimmer K,Fauth C,Grond-Ginsbach C,Koch MJ,Deichmann A,von Kalle C,Bartram CR,Kohls

    更新日期：2012-04-06 00:00:00

  • The 47,XYY male, Y chromosome, and tooth size.

    abstract：:Permanent teeth of 12 individuals with a 47,XYY chromosome constitution have been examined. The tooth sizes of 47,XYY males were found to be larger than those of control males and females. In many instances the differences were statistically significant. Using these results, it was possible to conclude that a factor ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Alvesalo L,Osborne RH,Kari M

    更新日期：1975-01-01 00:00:00

  • Practical and Ethical Considerations of Using Personal DNA Tests with Middle-School-Aged Learners.

    abstract：:Personalized genetic information is not widely utilized as a resource in learning environments, in part because of concerns about data privacy and the treatment of sensitive personal information. Here we describe the implementation of a curriculum centered on analyzing personalized genetic-ancestry test results during...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2019.01.001

    authors： Wright EA,Wagner JK,Shriver MD,Fernandez JR,Jablonski NG

    更新日期：2019-02-07 00:00:00

  • Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.

    abstract：:Genomic rearrangements involving the peripheral myelin protein gene (PMP22) in human chromosome 17p12 are associated with neuropathy: duplications cause Charcot-Marie-Tooth disease type 1A (CMT1A), whereas deletions lead to hereditary neuropathy with liability to pressure palsies (HNPP). Our previous studies showed th...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2010.05.001

    authors： Zhang F,Seeman P,Liu P,Weterman MA,Gonzaga-Jauregui C,Towne CF,Batish SD,De Vriendt E,De Jonghe P,Rautenstrauss B,Krause KH,Khajavi M,Posadka J,Vandenberghe A,Palau F,Van Maldergem L,Baas F,Timmerman V,Lupski JR

    更新日期：2010-06-11 00:00:00

  • A test of the hypothesis that age at onset in Huntington disease is controlled by an X-linked recessive modifier.

    abstract：:Data from the Research Roster for Huntington Disease Patients and Families were used to assess the hypothesis that juvenile onset in Huntington disease is determined by an X-linked recessive modifying gene in the affected parent. The observed proportion of affected fathers to affected mothers who had such offspring w...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Ridley RM,Farrer LA,Frith CD,Conneally PM

    更新日期：1992-03-01 00:00:00

  • The duty to recontact: attitudes of genetics service providers.

    abstract：:The term "duty to recontact" refers to the possible ethical and/or legal obligation of genetics service providers (GSPs) to recontact former patients about advances in research that might be relevant to them. Although currently this practice is not part of standard care, some argue that such an obligation may be estab...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302293

    authors： Fitzpatrick JL,Hahn C,Costa T,Huggins MJ

    更新日期：1999-03-01 00:00:00

  • Testing for genetic linkage in families by a variance-components approach in the presence of genomic imprinting.

    abstract：:Some genes that affect development and behavior in mammals are known to be imprinted; and > or = 1% of all mammalian genes are imprinted. Hence, incorporating an imprinting parameter into linkage analysis may increase the power to detect linkage for these traits. Here we propose theoretical justifications for a recent...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/338931

    authors： Shete S,Amos CI

    更新日期：2002-03-01 00:00:00

  • ROADTRIPS: case-control association testing with partially or completely unknown population and pedigree structure.

    abstract：:Genome-wide association studies are routinely conducted to identify genetic variants that influence complex disorders. It is well known that failure to properly account for population or pedigree structure can lead to spurious association as well as reduced power. We propose a method, ROADTRIPS, for case-control assoc...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2010.01.001

    authors： Thornton T,McPeek MS

    更新日期：2010-02-12 00:00:00

  • Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

    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

    pub_type： 杂志文章

    doi：10.1086/346090

    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

  • From Peas to Disease: Modifier Genes, Network Resilience, and the Genetics of Health.

    abstract：:Phenotypes are rarely consistent across genetic backgrounds and environments, but instead vary in many ways depending on allelic variants, unlinked genes, epigenetic factors, and environmental exposures. In the extreme, individuals carrying the same causal DNA sequence variant but on different backgrounds can be class...

    journal_title：American journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ajhg.2017.06.004

    authors： Riordan JD,Nadeau JH

    更新日期：2017-08-03 00:00:00

  • The gene for May-Hegglin anomaly localizes to a

    abstract：:The May-Hegglin anomaly (MHA) is an autosomal dominant platelet disorder of unknown etiology. It is characterized by thrombocytopenia, giant platelets, and leukocyte inclusion bodies, and affected heterozygotes are predisposed to bleeding episodes. The MHA gene has recently been localized, by means of linkage analysis...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302873

    authors： Martignetti JA,Heath KE,Harris J,Bizzaro N,Savoia A,Balduini CL,Desnick RJ

    更新日期：2000-04-01 00:00:00

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

    abstract：:We have investigated the molecular basis for HbH disease in 16 patients from Sardinia, and central and southern Italy. We have shown that HbH disease is produced by the interaction of at least 10 different deletional or nondeletional alpha-thalassemia haplotypes, some of which have been already described in the Medite...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Di Rienzo A,Novelletto A,Aliquò MC,Bianco I,Tagarelli A,Brancati C,Colombo B,Felicetti L

    更新日期：1986-11-01 00:00:00

  • Genetic heterogeneity of insulin-dependent (type I) diabetes mellitus: evidence from a study of extended haplotypes.

    abstract：:Two hundred subjects with insulin-dependent (type I) diabetes mellitus (IDDM) were typed for HLA-B, HLA-DR, and properdin factor B (Bf). HLA and Bf antigen and haplotype frequencies in subjects were compared with control frequencies derived from the 8th HLA Workshop. Frequencies of extended haplotypes (defined by B-Bf...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Rich SS,Weitkamp LR,Barbosa J

    更新日期：1984-09-01 00:00:00