Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly.

abstract：:Qualitative and quantitative defects in human germ cell production that result in infertility are common and determined at least in part by genetic factors [Matzuk and Lamb, Nat Cell Biol 4(Suppl):s41-s49, 2002]. Yet, very few genes that are associated with germ cell defects in humans have been identified. In this stu...

journal_title：Human genetics

authors： Tung JY,Rosen MP,Nelson LM,Turek PJ,Witte JS,Cramer DW,Cedars MI,Pera RA

更新日期：2006-02-01 00:00:00

abstract：:A population study of Gd- allele distribution was made in similar (age-sex) samples of schoolchildren and students from different ethnic groups: Russians, Ashkenazi Jews, and Azerbaijanians. Both the frequency and the spectrum of the Gd- alleles were quite different. The Gd- frequency in Russians (Kostroma region) was...

journal_title：Human genetics

authors： Krasnopolskaya XD,Shatskaya TL

更新日期：1987-03-01 00:00:00

abstract：:Cytogenetic studies were carried out on 150 oocytes obtained in a human in vitro fertilization (IVF) program. Although all cells lacked signs of fertilization at light microscopy, 46 (30.7%) appeared to show cytological evidence of fertilization. At least one-third of these cells (with development arrested before firs...

journal_title：Human genetics

authors： Pieters MH,Geraedts JP,Dumoulin JC,Evers JL,Bras M,Kornips FH,Menheere PP

更新日期：1989-03-01 00:00:00

abstract：:The genetically determined polymorphism of human pancreatic amylase (E.C. 3.2.1.1), AMY2, is demonstrated in serum specimens by agarose gel electrophoresis. We investigated 325 mother-child pairs and 2594 unrelated individuals from southwestern Germany. This study confirms the formal hypothesis of two common alleles A...

journal_title：Human genetics

authors： Kömpf J,Siebert G,Ritter H

更新日期：1979-10-01 00:00:00

abstract：:Fragile X-related disorders are due to a dynamic mutation of the CGG repeat at the 5' UTR of the FMR1 gene, coding for the RNA-binding protein FMRP. As the CGG sequence expands from premutation (PM, 56-200 CGGs) to full mutation (> 200 CGGs), FMRP synthesis decreases until it is practically abolished in fragile X synd...

journal_title：Human genetics

authors： Nobile V,Palumbo F,Lanni S,Ghisio V,Vitali A,Castagnola M,Marzano V,Maulucci G,De Angelis C,De Spirito M,Pacini L,D'Andrea L,Ragno R,Stazi G,Valente S,Mai A,Chiurazzi P,Genuardi M,Neri G,Tabolacci E

更新日期：2020-02-01 00:00:00

abstract：:The possibility of using TaqI restriction fragment length polymorphism (RFLP) analysis of the HLA-B locus and the HLA-DR-DQ subregions, flanking the 21-hydroxylase genes, for predicting disease in siblings of children with 21-hydroxylase deficiency was analyzed in 12 nuclear families with at least one affected child a...

journal_title：Human genetics

authors： Olerup O,Luthman H,Ritzén EM,Haglund-Stengler B

更新日期：1990-10-01 00:00:00

abstract：:From a series of 53 patients with ataxia telangiectasia, two large clones with a t tan or tct(14;14) and two with an inv(14) were observed among phytohaemagglutinin (PHA)-stimulated lymphocytes. Smaller clones with the same inv(14) were observed in two other cases. Similar breakpoints may exist, both for t(14;14) and ...

journal_title：Human genetics

authors： Aurias A,Croquette MF,Nuyts JP,Griscelli C,Dutrillaux B

更新日期：1986-01-01 00:00:00

abstract：:A 12 month-old male patient with a karyotype 46,XY,-15,+der(15),t(13;15)(q22;q26)pat is presented. His stillborn sib showed malformations compatible with the 13q deletion syndrome, probably due to a 46,XY,der(13) karyotype. Phenotypic analysis of 41 cases from the literature with partial distal 13q (D13q) trisomies in...

journal_title：Human genetics

authors： Rivas F,Rivera H,Plascencia ML,Ibarra B,Cantú JM

更新日期：1984-01-01 00:00:00

abstract：:The author engages in further debate between numerous signatories of a letter who disputes that the author has put forward that the anticipated benefits of a personalised program for cancer prevention and screening are unwarranted. In the event that a cancer screening program is an effective means of mortality reducti...

journal_title：Human genetics

authors： Narod SA

更新日期：2019-03-01 00:00:00

abstract：:We report the first use of amnion epithelium for prenatal diagnosis. Prenatal diagnosis of recessive epidermolysis bullosa atrophicans generalisata gravis Herlitz type can at present be achieved with safety by detailed ultrastructural analysis of fetal skin. Because of the close developmental origin of amnion and skin...

journal_title：Human genetics

authors： Hausser I,Anton-Lamprecht I

更新日期：1990-08-01 00:00:00

abstract：:Using in situ chromosomal hybridization we have mapped the gene for the T-cell receptor alpha-chain in three different non-malignant T-cell clones occurring in ataxia telangiectasia. The constant region was translocated in each of the three clones. The variable region remained in its original position in two cases and...

journal_title：Human genetics

authors： Stern MH,Zhang FR,Griscelli C,Thomas G,Aurias A

更新日期：1988-01-01 00:00:00

abstract：:Cystic fibrosis (CF) is one of the most common autosomal recessive disorders in white populations. Significant regional differences in CF mutations among affected individuals have been reported. We have studied the geographic distribution of the relative frequencies of the three most common Dutch CF mutations, deltaF5...

journal_title：Human genetics

authors： Collée JM,de Vries HG,Scheffer H,Halley DJ,ten Kate LP

更新日期：1998-05-01 00:00:00

abstract：:Steroid sulfatase (STS) activities in female fibroblast strains are significantly higher than in male strains, as determined by cleavage of dehydroepiandrosterone sulfate. The difference is probably not due to hormonal control of gene expression, but suggests that for this X-linked locus there is no gene dosage compen...

journal_title：Human genetics

authors： Müller CR,Migl B,Traupe H,Ropers HH

更新日期：1980-01-01 00:00:00

abstract：:Muenke syndrome, also known as FGFR3-associated coronal synostosis, is defined molecularly by the presence of a heterozygous nucleotide transversion, c.749C>G, encoding the amino acid substitution Pro250Arg, in the fibroblast growth factor receptor type 3 gene (FGFR3). This frequently occurs as a new mutation, manifes...

journal_title：Human genetics

authors： Rannan-Eliya SV,Taylor IB,De Heer IM,Van Den Ouweland AM,Wall SA,Wilkie AO

更新日期：2004-08-01 00:00:00

abstract：:The epidemiological, teratological and genetic data on 134 index patients with omphalocele (79 isolated and 55 multiple ones) and on 134 matched controls born in Hungary 1970-1976 were studied medical records and by retrospective interview. The stillbirth rate and infant mortality are significantly higher, and there i...

journal_title：Human genetics

authors： Czeizel A,Vitéz M

更新日期：1981-01-01 00:00:00

abstract：:We report clinical and molecular findings in 15 Japanese mosaic females with r(X) chromosomes, 45,X/46,X,r(X), confirmed by fluorescence in situ hybridization (FISH) analysis for DXZ1 and whole X chromosome painting. Cases 1-3, 5-7, and 11-13 had mental retardation (MR), the remaining cases being free from MR. FISH an...

journal_title：Human genetics

authors： Matsuo M,Muroya K,Adachi M,Tachibana K,Asakura Y,Nakagomi Y,Hanaki K,Yokoya S,Yoshizawa A,Igarashi Y,Hanew K,Matsuo N,Ogata T

更新日期：2000-11-01 00:00:00

abstract：:The identification of a novel CYP2D6 allele from a healthy Caucasian poor metabolizer was achieved by using a previously described polymerase chain reaction/single-strand conformation polymorphism strategy. Among the four point mutations that this allele carries, a missense mutation in exon 1 (212 G-->A or D6-H) seems...

journal_title：Human genetics

authors： Marez D,Legrand M,Sabbagh N,Lo-Guidice JM,Boone P,Broly F

更新日期：1996-05-01 00:00:00

abstract：:During population genetic studies in Korea a new variant in the 6-phosphogluconate (6-PGD) system preliminary called 6-PGDKorea was observed. ...

journal_title：Human genetics

authors： Benkmann HG,Paik YK,Chen LZ,Goedde HW

更新日期：1986-10-01 00:00:00

abstract：:A family with four 46,XX siblings affected by the pure gonadal dysgenesis syndrome is described. Inheritance is by an autosomal recessive gene limited to the female sex. ...

journal_title：Human genetics

authors： Nazareth HR,Farah LM,Cunha AJ,Vieira FJ

更新日期：1977-06-10 00:00:00

abstract：:The cDNA clone encoding human UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-1 (GalNAc-T1) was isolated from colon tissue by a reverse transcriptase-polymerase chain reaction (RT-PCR). Using fluorescence in situ hybridization, the position of the GalNAc-T1 gene was shown to be localiz...

journal_title：Human genetics

authors： Takai S,Hinoda Y,Adachi T,Imai K,Oshima M

更新日期：1997-03-01 00:00:00

abstract：:We describe a genetic polymorphism of cytosol polypeptide with mol. wt. of 38,000 detected in phytohemagglutinin (PHA)-stimulated peripheral blood lymphocytes by two-dimensional gel electrophoresis. Three different electrophoretic phenotypes (type 1-1, 2-1, 2-2) of the polypeptide have been identified in a Japanese po...

journal_title：Human genetics

authors： Kondo I,Yamamoto T,Yamakawa K,Shibasaki M,Hamaguchi H

更新日期：1985-01-01 00:00:00

abstract：:Myotonic dystrophy (DM) is a dominantly inherited neuromuscular disorder characterised by muscle weakness and wasting. There are two forms of DM; both of which are caused by the expansion of repeated DNA sequences. DM1 is associated with a CTG repeat located in the 3' untranslated region of a gene, DMPK and DM2 with a...

journal_title：Human genetics

authors： Machuca-Tzili L,Thorpe H,Robinson TE,Sewry C,Brook JD

更新日期：2006-11-01 00:00:00

abstract：:In seven large families with myotonic dystrophy (DM) comprising 102 individuals, linkage studies were performed employing restriction fragment length polymorphisms in the complement component 3 gene and the 19cen C banding heteromorphism as genetic markers. Three-point linkage analysis excludes DM from the 19cen-C3 se...

journal_title：Human genetics

authors： Friedrich U,Brunner H,Smeets D,Lambermon E,Ropers HH

更新日期：1987-03-01 00:00:00

abstract：:Preterm birth (PTB) is the leading cause of infant mortality. PTB pathophysiology overlaps with those of adult cardiovascular, immune and metabolic disorders (CIMD), with mechanisms including inflammation, immunotolerance, thrombosis, and nutrient metabolism. Whereas many genetic factors for CIMD have been identified,...

journal_title：Human genetics

authors： Falah N,McElroy J,Snegovskikh V,Lockwood CJ,Norwitz E,Murray JC,Kuczynski E,Menon R,Teramo K,Muglia LJ,Morgan T

更新日期：2013-01-01 00:00:00

abstract：:Densitometric C-band measurements in chromosomes 1, 9, and 16 of 394 Indians and 40 Caucasoids living in Brazil are reported. No significant intratribal variability in the average length of these regions was observed, and the intertribal variation showed no consistent patterns. But the Caucasoids always presented lowe...

journal_title：Human genetics

authors： Erdtmann B,Salzano FM,Mattevi MS,Flores RZ

更新日期：1981-01-01 00:00:00

abstract：:Eighty-five samples of chorionic villi from women undergoing prenatal diagnosis at 8 to 12 weeks' gestation were subjected to cytogenetic analysis. Samples were prepared by a direct technique that permits limited analysis within two hours and by a short-term culture technique that permits detailed structural analysis ...

journal_title：Human genetics

authors： Vekemans MJ,Perry TB

更新日期：1986-04-01 00:00:00

abstract：:We have used Y-specific and Y-derived DNA probes for in situ hybridization and Southern blotting analysis to characterize a Y;15 translocation showing normal Mendelian inheritance in a family. Cytogenetically there appeared to be an unbalanced translocation of Yqh to 15p; this translocation may be considered as a prot...

journal_title：Human genetics

authors： Alitalo T,Tiihonen J,Hakola P,de la Chapelle A

更新日期：1988-05-01 00:00:00

abstract：:EagI and NotI linking libraries were prepared in the lambda vector, EMBL5, from the mouse-human somatic cell hybrid 1W1LA4.9, which contains human chromosomes 11 and Xp as the only human component. Individual clones containing human DNA were isolated by their ability to hybridise with total human DNA and digested with...

journal_title：Human genetics

authors： Pook MA,Thakrar R,Pottinger B,Harding B,Porteous D,van Heyningen V,Cowell J,Jones C,Povey S,Davies KE,Thakker RV

更新日期：1996-06-01 00:00:00

abstract：:Results obtained so far on the C3 polymorphism suggest that the system should be a valuable marker in population studies. The instability of the complement component C3 may, however, cause some practical problems in population genetic fieldwork, since a certain fraction of serum samples may be difficult to type with c...

journal_title：Human genetics

authors： Seth PK,Seth S

更新日期：1976-08-30 00:00:00

abstract：:Restriction endonucleases have been recently proved to be active on fixed chromosomes, thus they are useful in chromatin structure studies. Within this class of enzymes, Alu I is able to detect the presence and localization of highly repetitive DNA sequences in human and in other mammalian and dipteran species. In thi...

journal_title：Human genetics

authors： De Stefano GF,Romano E,Ferrucci L

更新日期：1986-03-01 00:00:00