Evidence that the Saethre-Chotzen syndrome locus lies between D7S664 and D7S507, by genetic analysis and detection of a microdeletion in a patient.

abstract：:The results of sib-pair linkage studies may be compromised if a substantial number of putative sib pairs are not actually sib pairs. For classification of pairs in a sib-pair genome scan, I propose multipoint methods that are based on a Markov-process model of allele sharing along the chromosome. These methods can be ...

journal_title：American journal of human genetics

authors： Olson JM

更新日期：1999-05-01 00:00:00

abstract：:Families in which both parents are heterozygotes for the same autosomal dominant neoplasia syndrome are extremely unusual. Recently, we had the unique opportunity to evaluate three symptomatic siblings from the union between two unrelated individuals affected by multiple endocrine neoplasia type 1 (MEN1). When the thr...

journal_title：American journal of human genetics

authors： Brandi ML,Weber G,Svensson A,Falchetti A,Tonelli F,Castello R,Furlani L,Scappaticci S,Fraccaro M,Larsson C

更新日期：1993-12-01 00:00:00

abstract：:Beckwith-Wiedeman syndrome (BWS) and Klippel-Trenaunay-Weber syndrome (KTWS) are different human disorders characterized, among other features, by tissue overgrowth. Deregulation of one or more imprinted genes located at chromosome 11p15.5, of which insulin-like growth factor 2 (IGF2) is the most likely candidate, is ...

journal_title：American journal of human genetics

authors： Sperandeo MP,Ungaro P,Vernucci M,Pedone PV,Cerrato F,Perone L,Casola S,Cubellis MV,Bruni CB,Andria G,Sebastio G,Riccio A

更新日期：2000-03-01 00:00:00

abstract：:It has been observed that multiple sulfatase deficiency disorder (MSDD) fibroblasts contained from profoundly deficient to near normal amounts of arylsulfatase (ARS) A depending on the medium in which they were cultured. Our present findings show that the major factor determining the enzyme level is the pH of the medi...

journal_title：American journal of human genetics

authors： Fluharty AL,Stevens RL,de la Flor SD,Shapiro LJ,Kihara H

更新日期：1979-09-01 00:00:00

abstract：:Regional chromosomal mosaicism has been found in tissue from the clitoral mass of an infant presenting with ambiguous genitalia. Chromosome analysis of skin from the clitoral mass was interpreted as 46,XX/52,XX, +2, +7, +8, +12, +13, +20, whereas study of ovarian tissue and peripheral lymphocytes found each to have no...

journal_title：American journal of human genetics

authors： Seely JR,Seely BL,Bley R Jr,Altmiller CJ

更新日期：1984-07-01 00:00:00

abstract：:The pheochromocytomas are an important cause of secondary hypertension. Although pheochromocytoma susceptibility may be associated with germline mutations in the tumor-suppressor genes VHL and NF1 and in the proto-oncogene RET, the genetic basis for most cases of nonsyndromic familial pheochromocytoma is unknown. Rece...

journal_title：American journal of human genetics

authors： Astuti D,Latif F,Dallol A,Dahia PL,Douglas F,George E,Sköldberg F,Husebye ES,Eng C,Maher ER

更新日期：2001-07-01 00:00:00

abstract：:Catecholamine-induced polymorphic ventricular tachycardia (PVT) is characterized by episodes of syncope, seizures, or sudden death, in response to physical activity or emotional stress. Two modes of inheritance have been described: autosomal dominant and autosomal recessive. Mutations in the ryanodine receptor 2 gene ...

journal_title：American journal of human genetics

authors： Lahat H,Pras E,Olender T,Avidan N,Ben-Asher E,Man O,Levy-Nissenbaum E,Khoury A,Lorber A,Goldman B,Lancet D,Eldar M

更新日期：2001-12-01 00:00:00

abstract：:Primary defects in motile cilia result in dysfunction of the apparatus responsible for generating fluid flows. Defects in these mechanisms underlie disorders characterized by poor mucus clearance, resulting in susceptibility to chronic recurrent respiratory infections, often associated with infertility; laterality def...

journal_title：American journal of human genetics

authors： Bonnefoy S,Watson CM,Kernohan KD,Lemos M,Hutchinson S,Poulter JA,Crinnion LA,Berry I,Simmonds J,Vasudevan P,O'Callaghan C,Hirst RA,Rutman A,Huang L,Hartley T,Grynspan D,Moya E,Li C,Carr IM,Bonthron DT,Leroux M,C

更新日期：2018-11-01 00:00:00

abstract：:Autosomal-recessive high-grade axial myopia was diagnosed in Bedouin Israeli consanguineous kindred. Some affected individuals also had variable expressivity of early-onset cataracts, peripheral vitreo-retinal degeneration, and secondary sight loss due to severe retinal detachments. Through genome-wide linkage analysi...

journal_title：American journal of human genetics

authors： Mordechai S,Gradstein L,Pasanen A,Ofir R,El Amour K,Levy J,Belfair N,Lifshitz T,Joshua S,Narkis G,Elbedour K,Myllyharju J,Birk OS

更新日期：2011-09-09 00:00:00

abstract：:Cellular DNAs from a panel of 20 unrelated individuals were screened for restriction fragment length polymorphisms (RFLP) with a DNA probe containing the first exon of the proopiomelanocortin gene (POMC), which has been assigned to chromosome 2p23-25. Digestion with the restriction endonuclease Sst 1 revealed a high f...

journal_title：American journal of human genetics

authors： Feder J,Migone N,Chang AC,Cochet M,Cohen SN,Cann H,Cavalli-Sforza LL

更新日期：1983-11-01 00:00:00

abstract：:We describe a new user-intense-learning experience that incorporates the teaching of clinical and research applications of human genetics in biochemistry while training first-year medical students to develop skills in computer access to the literature. Human genetics was incorporated into the biochemistry curriculum b...

journal_title：American journal of human genetics

authors： Proud VK,Schmidt FJ,Johnson ED,Mitchell JA

更新日期：1989-04-01 00:00:00

abstract：:Human neuroblastoma cells often are monosomic for the distal portion of 1p (1p36). We report that the deleted 1p material in cells of neuroblastoma lines is preferentially replaced by material from chromosome 17, resulting from an unbalanced 1;17 translocation. Chromosome 17 often acquires instability, followed by the...

journal_title：American journal of human genetics

authors： Savelyeva L,Corvi R,Schwab M

更新日期：1994-08-01 00:00:00

abstract：:Mitochondrial genetics is complicated by heteroplasmy, or mutant load, which may be from 1%-99%, and thus may produce a gene dosage-type effect. Limited data are available for genotype/phenotype correlations in disorders caused by mtDNA mutations; therefore, prenatal diagnosis for mtDNA mutations has been hindered by ...

journal_title：American journal of human genetics

authors： White SL,Collins VR,Wolfe R,Cleary MA,Shanske S,DiMauro S,Dahl HH,Thorburn DR

更新日期：1999-08-01 00:00:00

abstract：:In humans, recombination in the pseudoautosomal region is approximately 10-fold higher in males than in females. This difference is thought to reflect the fact that, in females, there is opportunity for genetic exchange along the entire length of the X chromosome, resulting in a relative reduction in the likelihood of...

journal_title：American journal of human genetics

authors： Hunt PA,LeMaire R

更新日期：1992-06-01 00:00:00

abstract：:The purpose of this study was to characterize the mutant enzyme in nine patients with gyrate atrophy of the choroid and retina associated with ornithine aminotransferase (OAT) deficiency, to elucidate the mechanism of response to pyridoxine in four pyridoxine-responsive patients, and to determine the extent of genetic...

journal_title：American journal of human genetics

authors： Kennaway NG,Stankova L,Wirtz MK,Weleber RG

更新日期：1989-03-01 00:00:00

abstract：:In a large public urban hospital obstetrics service with > 123,000 deliveries in a 10-year period (1980-89), the frequencies (0.12%) of any type of chromosomal abnormality and of trisomy syndromes were analyzed for maternal age-related risk, by logistic regression. Focusing on very young gravidas, we found that in the...

journal_title：American journal of human genetics

authors： Little BB,Ramin SM,Cambridge BS,Schneider NR,Cohen DS,Snell LM,Harrod MJ,Johnston WL

更新日期：1995-11-01 00:00:00

abstract：:Recent studies have suggested that a significant fraction of the human genome is contained in blocks of strong linkage disequilibrium, ranging from ~5 to >100 kb in length, and that within these blocks a few common haplotypes may account for >90% of the observed haplotypes. Furthermore, previous studies have suggested...

journal_title：American journal of human genetics

authors： Crawford DC,Carlson CS,Rieder MJ,Carrington DP,Yi Q,Smith JD,Eberle MA,Kruglyak L,Nickerson DA

更新日期：2004-04-01 00:00:00

abstract：:Familial amyotrophic lateral sclerosis (FALS) affects 5%-10% of cases of amyotrophic lateral sclerosis (ALS) and is inherited as an autosomal dominant condition with incomplete penetrance. One-fifth of these cases of FALS are associated with mutations in copper/zinc-dependent superoxide dismutase (SOD1), but the gene ...

journal_title：American journal of human genetics

authors： Abalkhail H,Mitchell J,Habgood J,Orrell R,de Belleroche J

更新日期：2003-08-01 00:00:00

abstract：:Over the past 20 years, the focus of national efforts to improve K-12 science education has ranged from curriculum and professional development of teachers to the adoption of science standards and high-stakes testing. In spite of this work, students in the United States continue to lag behind their peers in other coun...

journal_title：American journal of human genetics

authors： Dougherty MJ

更新日期：2009-07-01 00:00:00

abstract：:Dyskeratosis congenita (DC) is an inherited disorder characterized by reticular pigmentation of the skin, dystrophic nails, mucosal leukoplakia, and a predisposition to cancer in early adult life. In the majority of cases, DC is an X-linked recessive trait. However, one or more autosomal form(s) of DC may exist. Altho...

journal_title：American journal of human genetics

authors： DeBauche DM,Pai GS,Stanley WS

更新日期：1990-02-01 00:00:00

abstract：:We identified four different missense mutations in the single-exon gene MAB21L2 in eight individuals with bilateral eye malformations from five unrelated families via three independent exome sequencing projects. Three mutational events altered the same amino acid (Arg51), and two were identical de novo mutations (c.15...

journal_title：American journal of human genetics

authors： Rainger J,Pehlivan D,Johansson S,Bengani H,Sanchez-Pulido L,Williamson KA,Ture M,Barker H,Rosendahl K,Spranger J,Horn D,Meynert A,Floyd JA,Prescott T,Anderson CA,Rainger JK,Karaca E,Gonzaga-Jauregui C,Jhangiani S,Mu

更新日期：2014-06-05 00:00:00

abstract：:Paget disease of bone (PDB) is a skeletal disorder characterized by focal abnormalities of bone remodeling, which result in enlarged and deformed bones in one or more regions of the skeleton. In some cases, the pagetic tissue undergoes neoplastic transformation, resulting in osteosarcoma and, less frequently, in giant...

journal_title：American journal of human genetics

authors： Divisato G,Formicola D,Esposito T,Merlotti D,Pazzaglia L,Del Fattore A,Siris E,Orcel P,Brown JP,Nuti R,Strazzullo P,Benassi MS,Cancela ML,Michou L,Rendina D,Gennari L,Gianfrancesco F

更新日期：2016-02-04 00:00:00

abstract：:Despite the growing consensus on the importance of testing gene-gene interactions in genetic studies of complex diseases, the effect of gene-gene interactions has often been defined as a deviance from genetic additive effects, which is essentially treated as a residual term in genetic analysis and leads to low power i...

journal_title：American journal of human genetics

authors： Zhao J,Jin L,Xiong M

更新日期：2006-11-01 00:00:00

abstract：:A novel type IV collagen, alpha 3(IV), has recently been identified in human and bovine basement membranes. Here we describe the cloning and sequencing of a cDNA encoding 218 residues of the NC1 domain of the human alpha 3(IV) chain. Of interest is the possible role of abnormalities of the alpha 3(IV) chain in Alport ...

journal_title：American journal of human genetics

authors： Morrison KE,Mariyama M,Yang-Feng TL,Reeders ST

更新日期：1991-09-01 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：:A proband, clinically thought to have trisomy 10p, was found to have an inverted duplication of 10p [46, XY, inv dup(10)(qter----p15.3::p15.3----p 11.1:)]. The phenotypic findings and cytogenetic observations were supported by relevant biochemical studies. The activity of phosphofructokinase (platelet-type; PFKP), pre...

journal_title：American journal of human genetics

authors： Schwartz S,Cohen MM,Panny SR,Beisel JH,Vora S

更新日期：1984-07-01 00:00:00

abstract：:Fibroblast growth factor homologous factors (FHFs) are intracellular proteins which regulate voltage-gated sodium (Nav) channels in the brain and other tissues. FHF dysfunction has been linked to neurological disorders including epilepsy. Here, we describe two sibling pairs and three unrelated males who presented in i...

journal_title：American journal of human genetics

authors： Fry AE,Marra C,Derrick AV,Pickrell WO,Higgins AT,Te Water Naude J,McClatchey MA,Davies SJ,Metcalfe KA,Tan HJ,Mohanraj R,Avula S,Williams D,Brady LI,Mesterman R,Tarnopolsky MA,Zhang Y,Yang Y,Wang X,Genomics England R

更新日期：2021-01-07 00:00:00

abstract：:Eleven normal families with at least four children were studied cytogenetically using the C-band technique to identify polymorphisms in the constitutive heterochromatin of chromosomes 1, 9 and 16. Thirteen individuals showed one or more variants in such chromosomes. The analysis of the segregation ratios in the 35 off...

journal_title：American journal of human genetics

authors： Carnevale A,Ibañez BB,del Castillo V

更新日期：1976-07-01 00:00:00

abstract：:Down syndrome is a complex genetic and metabolic disorder attributed to the presence of three copies of chromosome 21. The extra chromosome derives from the mother in 93% of cases and is due to abnormal chromosome segregation during meiosis (nondisjunction). Except for advanced age at conception, maternal risk factors...

journal_title：American journal of human genetics

authors： Hobbs CA,Sherman SL,Yi P,Hopkins SE,Torfs CP,Hine RJ,Pogribna M,Rozen R,James SJ

更新日期：2000-09-01 00:00:00

abstract：:Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disorder characterized mainly by symmetrical and selective atrophy of the proximal limb muscles. It derives from defects in the human CAPN3 gene, which encodes the skeletal muscle-specific member of the calpain family. This report represents a c...

journal_title：American journal of human genetics

authors： Richard I,Roudaut C,Saenz A,Pogue R,Grimbergen JE,Anderson LV,Beley C,Cobo AM,de Diego C,Eymard B,Gallano P,Ginjaar HB,Lasa A,Pollitt C,Topaloglu H,Urtizberea JA,de Visser M,van der Kooi A,Bushby K,Bakker E,Lopez

更新日期：1999-06-01 00:00:00