Delineation of marker chromosomes by reverse chromosome painting using only a small number of DOP-PCR amplified microdissected chromosomes.

abstract：:We investigated whether the amount of circulating cell-free fetal DNA in maternal serum is influenced by fetal karyotype, using real-time quantitative polymerase chain reaction assay. Serum samples were obtained from pregnant women at gestational ages ranging from 15 to 17 weeks, prior to their undergoing amniocentesi...

journal_title：Human genetics

authors： Ohashi Y,Miharu N,Honda H,Samura O,Ohama K

更新日期：2001-02-01 00:00:00

abstract：:We have examined unfertilised oocytes and their first polar bodies (PBs) to determine the way in which the frequency of whole chromosome imbalance compares with that involving single chromatids and whether the precocious separation of chromatids prior to anaphase I affects all pairs of chromosomes. We have applied the...

journal_title：Human genetics

authors： Mahmood R,Brierley CH,Faed MJ,Mills JA,Delhanty JD

更新日期：2000-06-01 00:00:00

abstract：:The karyotypes of more than 60 species of Primates are studied and compared, with the use of almost all existing banding techniques. There is a very close analogy of chromosome banding between the Simians studied and man. The quantitative or qualitative variations detected all involve the heterochromatin. It is very l...

journal_title：Human genetics

authors： Dutrillaux B

更新日期：1979-05-10 00:00:00

abstract：:Experiments have been performed to determine whether human lymphocytes in primary cultures can show an "adaptive" response to the induction of cellular lesions (manifested as a production of sister chromatid exchanges, SCEs) as previously found in bacteria and established human and mammalian cell lines. Human lymphocy...

journal_title：Human genetics

authors： Morimoto K,Sato-Mizuno M,Koizumi A

更新日期：1986-05-01 00:00:00

abstract：:Autosomal dominant polycystic kidney disease is characterized by clinical and genetic heterogeneity. Two loci implicated in the disease have previously been mapped (PKD1 on chromosome 16 and PKD2 on chromosome 4). By two point and multipoint linkage analysis, negative lod scores have been found for both chromosome 16 ...

journal_title：Human genetics

authors： de Almeida S,de Almeida E,Peters D,Pinto JR,Távora I,Lavinha J,Breuning M,Prata MM

更新日期：1995-07-01 00:00:00

abstract：:Neural tube defects (NTD) result from complex mechanisms between genes, nutrition and environment. The identification of genetic predictors by genome exome sequencing and their influence on genome methylation need further consideration. Gene variants related to 1-CM metabolism (1-CM) could influence the methylation of...

journal_title：Human genetics

authors： Renard E,Chéry C,Oussalah A,Josse T,Perrin P,Tramoy D,Voirin J,Klein O,Leheup B,Feillet F,Guéant-Rodriguez RM,Guéant JL

更新日期：2019-07-01 00:00:00

abstract：:The frequency and distribution of aphidicolin (APC)-induced common fragile sites (cfs) were analyzed in human embryonic cells of different origins. Embryonic lung fibroblasts (MRC-5), amniocytes (AMINO) and embryonic retina cells (HERO790) are as sensitive to the APC-induced clastogenic effect as peripheral lymphocyte...

journal_title：Human genetics

authors： Caporossi D,Vernole P,Nicoletti B,Tedeschi B

更新日期：1995-09-01 00:00:00

abstract：:In this paper genetic, clinical, and epidemiological studies on a muscular dystrophy which originated and is concentrated in the village of Cullar, Nevşehir of inland Turkey, are reported. A pedigree chart has been constructed by careful and repeated inquiries, and both clinical and laboratory examinations have genera...

journal_title：Human genetics

authors： Sayli BS,Yaltkaya K,Cin S

更新日期：1984-01-01 00:00:00

abstract：:The recent observations that Peroxisome proliferator activated receptor gamma coactivator 1 alpha (PGC1A) is responsible for the induction of reactive oxygen species (ROS) detoxifying agents and that ROS triggers insulin resistance, support the role that this gene could play in the onset of Type 2 diabetes mellitus (T...

journal_title：Human genetics

authors： Bhat A,Koul A,Rai E,Sharma S,Dhar MK,Bamezai RN

更新日期：2007-06-01 00:00:00

abstract：:Thirty one families with Alport syndrome including 3 families with associated syndromes were studied. The location of the COL4A5 gene, responsible for the Alport syndrome, was determined by linkage analysis with eight probes of the Xq arm and by a radiation hybrid panel. Concordant data indicated the localization of t...

journal_title：Human genetics

authors： M'Rad R,Sanak M,Deschenes G,Zhou J,Bonaiti-Pellie C,Holvoet-Vermaut L,Heuertz S,Gubler MC,Broyer M,Grunfeld JP

更新日期：1992-12-01 00:00:00

abstract：:Five autosomal dominant craniosynostosis syndromes (Apert, Crouzon, Pfeiffer, Jackson-Weiss and Crouzon syndrome with acanthosis nigricans) result from mutations in FGFR genes. Fourteen unrelated patients with FGFR2-related craniosynostosis syndromes were screened for mutations in exons IIIa and IIIc of FGFR2. Eight o...

journal_title：Human genetics

authors： Hollway GE,Suthers GK,Haan EA,Thompson E,David DJ,Gecz J,Mulley JC

更新日期：1997-02-01 00:00:00

abstract：:Five patients with hereditary elliptocytosis (HE) from two unrelated black families were studied. The patients had prominent elliptocytosis and a decreased erythrocyte resistance to heat treatment. In one infant blood smears showed elliptocytosis and poikilocytosis; his erythrocytes fagmented at a lower temperature th...

journal_title：Human genetics

authors： Lecomte MC,Dhermy D,Garbarz M,Feo C,Gautero H,Bournier O,Picat C,Chaveroche I,Ester A,Galand C

更新日期：1985-01-01 00:00:00

abstract：:We identified two informative polymorphisms in the transcribed 3' untranslated region of the tumor necrosis factor receptor 2 (TNFR2) gene using the polymerase chain reaction (PCR) with the single-strand conformation polymorphism (SSCP) technique. These polymorphisms demonstrated Mendelian inheritance and were useful ...

journal_title：Human genetics

authors： Kaufman BA,White PS,Steinbrueck T,Donis-Keller H,Brodeur GM

更新日期：1994-10-01 00:00:00

abstract：:Alternative splicing is a major cellular mechanism in metazoans for generating proteomic diversity. A large proportion of protein-coding genes in multicellular organisms undergo alternative splicing, and in humans, it has been estimated that nearly 90 % of protein-coding genes-much larger than expected-are subject to ...

journal_title：Human genetics

authors： Gamazon ER,Stranger BE

更新日期：2014-06-01 00:00:00

abstract：:Ninety-six alleles (36 alleles of Japanese and 60 of Caucasian origin) from forty-eight patients with mucopolysaccharidosis IVA were investigated for structural gene alterations using Southern blot analysis. All patients had a previously demonstrated deficiency of N-acetyl-galactosamine-6-sulfate-sulfatase and exhibit...

journal_title：Human genetics

authors： Tomatsu S,Fukuda S,Cooper A,Wraith JE,Uchiyama A,Hori T,Nakashima Y,Yamada N,Sukegawa K,Kondo N

更新日期：1995-04-01 00:00:00

abstract：:A fragile site on chromosome 12, at 12q24.13, was found in the lymphocytes of two members of a family during the study for detection of a fragile X chromosome. The site was found to be heritable and folate-sensitive, and it fulfills all four criteria for a fragile site. It thus can now be confirmed as the heritable fr...

journal_title：Human genetics

authors： Amarose AP,Huttenlocher PR,Sprudzs RM,Laitsch TJ,Pettenati MJ

更新日期：1987-01-01 00:00:00

abstract：:Albumin is a developmentally regulated serum protein synthesized in the liver mainly during adulthood. Family studies using variant forms of albumin established autosomal linkage between albumin and group-specific component protein (GS). Since GC has been assigned to human chromosome 4, albumin can be indirectly assig...

journal_title：Human genetics

authors： Kao FT,Hawkins JW,Law ML,Dugaiczyk A

更新日期：1982-01-01 00:00:00

abstract：:Holoprosencephaly (HPE) is a common forebrain malformation associated with mental retardation and craniofacial anomalies. Multiple lines of evidence indicate that loss of ventral neurons is associated with HPE. The condition is etiologically heterogeneous, and abnormalities in any of several genes can cause human HPE....

journal_title：Human genetics

authors： Schell-Apacik C,Rivero M,Knepper JL,Roessler E,Muenke M,Ming JE

更新日期：2003-07-01 00:00:00

abstract：:The pattern of X-chromosome inactivation was analyzed, by means of two different DNA probes (pSPT-PGK and M27 beta), in several cell lineages derived from females belonging to a pedigree with X-linked immunodeficiency with hyper-IgM (HIGM1). Non-random X-chromosome inactivation was demonstrated in T cells, B cells, an...

journal_title：Human genetics

authors： Notarangelo LD,Parolini O,Albertini A,Duse M,Mazzolari E,Plebani A,Camerino G,Ugazio AG

更新日期：1991-12-01 00:00:00

abstract：:Genetic syndromes involving both brain and eye abnormalities are numerous and include syndromes such as Warburg micro syndrome, Kaufman oculocerebrofacial syndrome, Cerebro-oculo-facio-skeletal syndrome, Kahrizi syndrome and others. Using exome sequencing, we have been able to identify homozygous mutation p.(Tyr39Cys)...

journal_title：Human genetics

authors： Basel-Vanagaite L,Smirin-Yosef P,Essakow JL,Tzur S,Lagovsky I,Maya I,Pasmanik-Chor M,Yeheskel A,Konen O,Orenstein N,Weisz Hubshman M,Drasinover V,Magal N,Peretz Amit G,Zalzstein Y,Zeharia A,Shohat M,Straussberg R,Mont

更新日期：2015-06-01 00:00:00

abstract：:Human and chimpanzee karyotypes differ by virtue of nine pericentric inversions that serve to distinguish human chromosomes 1, 4, 5, 9, 12, 15, 16, 17, and 18 from their chimpanzee orthologues. In this study, we have analysed the breakpoints of the pericentric inversion characteristic of chimpanzee chromosome 4, the h...

journal_title：Human genetics

authors： Szamalek JM,Goidts V,Chuzhanova N,Hameister H,Cooper DN,Kehrer-Sawatzki H

更新日期：2005-07-01 00:00:00

abstract：:Three families with anhidrotic ectodermal dysplasia (AED) have been studied by linkage analysis with seven polymorphic DNA markers from the Xp11-q21 region. Previously reported linkage to DXYS1 (Xq13-q21) has been confirmed (z (theta) = 4.08 at theta = 0.05) and we have also established linkage to another polymorphic ...

journal_title：Human genetics

authors： Hanauer A,Alembik Y,Arveiler B,Formiga L,Gilgenkrantz S,Mandel JL

更新日期：1988-10-01 00:00:00

abstract：:Segregation analysis was performed in three families affected in X-linked agammaglobulinemia (XLA) with five polymorphic DNA probes linked to the disease locus. In agreement with previous studies, no recombination was observed with either pXG12 (DXS94) or S21 (DXS17). Segregation analysis was also performed with a mar...

journal_title：Human genetics

authors： Guioli S,Arveiler B,Bardoni B,Notarangelo LD,Panina P,Duse M,Ugazio A,Oberlé I,de Saint Basile G,Mandel JL

更新日期：1989-12-01 00:00:00

abstract：:A previously identified complex mutation, affecting exon 28 of the neurofibromatosis type 1 gene, was employed for the analysis of the expression pattern in primary cultures of neurofibroma cells and melanocytes from a café-au-lait macule of the patient, respectively. Reverse transcription and subsequent polymerase ch...

journal_title：Human genetics

authors： Stark M,Assum G,Kaufmann D,Kehrer H,Krone W

更新日期：1992-12-01 00:00:00

abstract：:Genetic studies in Turkish, Native American, European American, and African American (AA) families have linked chromosome 18q21.1-23 to susceptibility for diabetes-associated nephropathy. In this study, we have carried out fine linkage mapping in the 18q region previously linked to diabetic nephropathy in AAs by genot...

journal_title：Human genetics

authors： McDonough CW,Bostrom MA,Lu L,Hicks PJ,Langefeld CD,Divers J,Mychaleckyj JC,Freedman BI,Bowden DW

更新日期：2009-12-01 00:00:00

abstract：:A survey of a number of unselected sera indicated the presence of a variant allele of mitochondrial glutamate-oxaloacetate transaminase (Got2m) in Japanese with appreciable frequency, which was confirmed in white blood cells. The mode of an autosomal codominant inheritance was confirmed by two independent family studi...

journal_title：Human genetics

authors： Toyomasu T,Sakakibara S,Kagamiyama H,Matsumoto H

更新日期：1984-01-01 00:00:00

abstract：:This paper presents the clinical and cytogenetic findings in a female patient with secondary amenorrhea and normal phenotype. Some difficulties related to karyotype-phenotype correlation are discussed. ...

journal_title：Human genetics

authors： Branković S,Laća Z,Dramusić V,Ivanović M,Morić-Petrović S

更新日期：1979-04-17 00:00:00

abstract：:cDNA probe of the casein kinase 2 alpha subunit gene detects a biallelic PstI polymorphism. This restriction fragment length polymorphism is the first known genetic marker of this gene. ...

journal_title：Human genetics

authors： Singh S,Jantke I,Simon M,Meybohm I,Boldyreff B,Issinger O,Goedde HW

更新日期：1994-04-01 00:00:00

abstract：:A reciprocal translocation involving chromosomes Nos. 3 and 22 has been found in a patient with seemingly Ph-negative chronic myelogenous leukemia (CML). G-band analysis revealed, that deletion in No. 22 occurred at the same point, as in the typical cases of the disease. It was concluded, that breakage in No. 22 at a ...

journal_title：Human genetics

authors： Pravtcheva D,Andreeva P,Tsaneva R

更新日期：1976-05-19 00:00:00

abstract：:Otosclerosis is a common form of hearing loss characterized by abnormal bone remodeling in the otic capsule. It is considered a complex disease caused by both genetic and environmental factors. In a previous study, we identified a region on chr7q22.1 located in the RELN gene that is associated with otosclerosis in Bel...

journal_title：Human genetics

authors： Schrauwen I,Ealy M,Fransen E,Vanderstraeten K,Thys M,Meyer NC,Cosgarea M,Huber A,Mazzoli M,Pfister M,Smith RJ,Van Camp G

更新日期：2010-02-01 00:00:00