A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain.

abstract：:Angelman syndrome is a neuro-developmental disorder caused by genetic abnormalities affecting the maternal gene expression in the chromosome region 15q11-q13. In a study group of 45 Finnish Angelman patients, a recurrence of a del(15)(q11q13) was detected in one family. The mother's chromosomes 15 were structurally no...

journal_title：Human genetics

authors： Kokkonen H,Leisti J

更新日期：2000-07-01 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：:A 3-year-old child of Sicilian origin was found to have a severe form of Cooley's anemia. Investigations were extended to other members of her family. In three, a rare beta-chain structural Hb variant, Hb G San José [beta 7 (A4) Glu to Gly], was observed: in the father of the porposita heterozygosity for the abnormal ...

journal_title：Human genetics

authors： Musumeci S,Schilirò G,Pizzarelli G,Tentori L,Marinucci M,Fontanarosa PP,Russo G

更新日期：1979-11-01 00:00:00

abstract：:1108 tribal and 1062 non-tribal individuals from three districts of Andhra Pradesh were examined for serum albumin variants. A slow-moving variant, identical to Albumin Kashmir was found in a single Muslim individual. Another new slow-moving variant, faster than Albumin Kashmir found in a single individual of a Koya D...

journal_title：Human genetics

authors： Rao PR,Goud JD,Swamy BR

更新日期：1979-10-01 00:00:00

abstract：:The staining properties of AT-specific dyes Hoechst 33342 and DAPI as revealed by Hoechst 33342/mithramycin and mithramycin/DAPI bivariate human flow karyotype patterns are different for chromosomes rich in heterochromatin. The peak corresponding to chromosome Y of a given cell line is higher on the A/T axis with mith...

journal_title：Human genetics

authors： Bernheim A,Miglierina R

更新日期：1989-09-01 00:00:00

abstract：:Statistical analysis of parental age data from 225 sporadic cases of bilateral retinoblastoma, plus ten sporadic cases of chromosome deletion or translocation involving 13q14 that was identified as of paternal origin, revealed no evidence of paternal or maternal age effect. Parental exposure to ionizing radiation or c...

journal_title：Human genetics

authors： Matsunaga E,Minoda K,Sasaki MS

更新日期：1990-01-01 00:00:00

abstract：:A method is described that permits the generation of four isolated blastomeres after embryo splitting of murine four-cell eggs and the subsequent chromosomal analysis of one of the obtained 1/4-blastomeres. According to the karyograms obtained, embryos can be selected for reimplantation and furthermore triplicated via...

journal_title：Human genetics

authors： Bacchus C,Buselmaier W

更新日期：1988-12-01 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：:Defective function of the Sonic Hedgehog (SHH) signaling pathway is the most frequent alteration underlying holoprosencephaly (HPE) or its various clinical microforms. We performed an extensive mutational analysis of the entire human DISP1 gene, required for secretion of all hedgehog ligand(s) and which maps to the HP...

journal_title：Human genetics

authors： Roessler E,Ma Y,Ouspenskaia MV,Lacbawan F,Bendavid C,Dubourg C,Beachy PA,Muenke M

更新日期：2009-05-01 00:00:00

abstract：:Subjects in the National Academy of Sciences-National Research Council Twin Registry of 31,848 male twin veterans were followed for mortality from 1 January 1946, or from the date of entry into military service if that was later, to 31 December 1978. During this time 3,573 deaths occurred among them, 837 due to trauma...

journal_title：Human genetics

authors： Hrubec Z,Neel JV

更新日期：1981-01-01 00:00:00

abstract：:Reverse transcription-polymerase chain reaction (RT-PCR)-based analyses of the adenomatous polyposis coli (APC) gene encompassing exons 1-15 revealed a complex pattern of products that were due to alternative splicing of exons 9, 10A and 14. The multiplicity of polypeptide chains obtained from T7-promoter-directed in ...

journal_title：Human genetics

authors： Bala S,Kraus C,Wijnen J,Meera Khan P,Ballhausen WG

更新日期：1996-11-01 00:00:00

abstract：:Population and family studies have confirmed the existence of a plasma alpha-L-fucosidase polymorphism in humans and the autosomal recessive inheritance of the low activity trait. The frequency of the latter is estimated at 11%. The low activity individuals or variants can also be distinguished by the fact that their ...

journal_title：Human genetics

authors： Willems PJ,Romeo E,Den Tandt WR,Van Elsen AF,Leroy JG

更新日期：1981-01-01 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：:Bone size (BS) is one of the major risk factors for osteoporotic fractures. BS variation is genetically determined to a substantial degree with heritability over 50%, but specific genes underlying variation of BS are still largely unknown. To identify specific genes for BS in Chinese, initial genome-wide association s...

journal_title：Human genetics

authors： Lei SF,Shen H,Yang TL,Guo Y,Dong SS,Xu XH,Deng FY,Tian Q,Liu YJ,Liu YZ,Li J,Deng HW

更新日期：2012-03-01 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：:Basal levels of C-reactive protein (CRP) have been associated with disease, particularly future cardiovascular events. Twin studies estimate 50% CRP heritability, so the identification of genetic variants influencing CRP expression is important. Existing studies in populations of European ancestry have identified nume...

journal_title：Human genetics

authors： Rhodes B,Morris DL,Subrahmanyan L,Aubin C,de Leon CF,Kelly JF,Evans DA,Whittaker JC,Oksenberg JR,De Jager PL,Vyse TJ

更新日期：2008-07-01 00:00:00

abstract：:The case of a newborn girl with Zellweger syndrome and a pericentric inversion of chromosome 7, 46,XX, inv(7)(p12q11.23), is reported. The diagnosis was confirmed by marked deficiency of peroxisomal beta-oxidation enzymes in hepatic cells from autopsy samples. This is the second case of Zellweger syndrome associated w...

journal_title：Human genetics

authors： Naritomi K,Izumikawa Y,Ohshiro S,Yoshida K,Shimozawa N,Suzuki Y,Orii T,Hirayama K

更新日期：1989-12-01 00:00:00

abstract：:The data of the chromosome abnormalities in 15 colorectal tumors are presented. Rearrangements of the short arm of chromosome 17, leading to deletions of this arm or its part were noted in 12 tumors; in 2 other cases, one of the homologs of pair 17 was lost. The losses of at least one homolog of other chromosomal pair...

journal_title：Human genetics

authors： Konstantinova LN,Fleischman EW,Knisch VI,Perevozchikov AG,Kopnin BP

更新日期：1991-03-01 00:00:00

abstract：:The human St2 locus has been assigned to chromosome 2, using a human ST2 cDNA clone, by a human/rodent somatic cel hybrid mapping panel. The St2 locus has also been mapped to chromosome 2q11.2, using a human ST2 genomic DNA clone, by in situ hybridization. The locus is very tightly linked to the Il-1r1 locus. Together...

journal_title：Human genetics

authors： Tominaga S,Inazawa J,Tsuji S

更新日期：1996-05-01 00:00:00

abstract：:Pathogenic mutations in TMPRSS3, which encodes a transmembrane serine protease, cause non-syndromic deafness DFNB8/10. Missense mutations map in the low density-lipoprotein receptor A (LDLRA), scavenger-receptor cysteine-rich (SRCR), and protease domains of the protein, indicating that all domains are important for it...

journal_title：Human genetics

authors： Wattenhofer M,Sahin-Calapoglu N,Andreasen D,Kalay E,Caylan R,Braillard B,Fowler-Jaeger N,Reymond A,Rossier BC,Karaguzel A,Antonarakis SE

更新日期：2005-10-01 00:00:00

abstract：:A male newborn with a ring 10 chromosome is described. The distal part of the long arm of chromosome 10, deleted during ring formation (10q25), is translocated to the short arm of chromosome 19. ...

journal_title：Human genetics

authors： Fryns JP,De Boeck K,Jaeken J,van den Berghe H

更新日期：1978-08-31 00:00:00

abstract：:Proximal spinal muscular atrophy (SMA) is a neuromuscular disorder caused by homozygous mutations of the SMN1 gene. SMN1 interacts with multiple proteins with functions in snRNP biogenesis, pre-mRNA splicing and presumably neural transport. SMN2, a nearly identical copy of SMN1, produces predominantly exon 7-skipped t...

journal_title：Human genetics

authors： Helmken C,Hofmann Y,Schoenen F,Oprea G,Raschke H,Rudnik-Schöneborn S,Zerres K,Wirth B

更新日期：2003-12-01 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：:We report the spectrum of mutations and associated modified haplotypes in patients with phenylketonuria living in Germany. A total of 546 independent alleles was investigated, including 411 of German and 65 of Turkish descent. Mutations were identified for 535 PKU alleles (98%) and there were 91 different mutations. T...

journal_title：Human genetics

authors： Zschocke J,Hoffmann GF

更新日期：1999-05-01 00:00:00

abstract：:By analyzing c-myc specific fragments from white blood cell DNAs of 98 gastric cancer patients and 46 control subjects, we observed 6 unexpected patterns due to presence of a variant c-myc gene in addition to the normal gene. Restriction enzyme mapping indicated that the variant c-myc gene was the result of a 5' delet...

journal_title：Human genetics

authors： Pellegata NS,Bergamaschi G,Amadori D,Aloia A,Ballarini P,Del Senno L,Amaducci L,Ranzani GN

更新日期：1991-09-01 00:00:00

abstract：:A survey of more than 21 000 haemolysates from blood samples collected in various parts of south and southeast Asia, Australasia and the Western Pacific and examined in this laboratory has revealed several new alleles controlling variants of sMDH; in addition, further information has been provided on the distribution ...

journal_title：Human genetics

authors： Blake NM

更新日期：1978-07-12 00:00:00

abstract：:Osteopetrosis is the result of mutations affecting osteoclast function. Careful analyses of osteopetrosis have provided instrumental information on bone remodeling, including the coupling of bone formation to bone resorption. Based on a range of novel genetic mutations and the resulting osteoclast phenotypes, we discu...

journal_title：Human genetics

authors： Segovia-Silvestre T,Neutzsky-Wulff AV,Sorensen MG,Christiansen C,Bollerslev J,Karsdal MA,Henriksen K

更新日期：2009-01-01 00:00:00

abstract：:Autosomal dominant familial spastic paraplegias (AD-FSP) are a group of genetically heterogeneous diseases characterised by a progressive spasticity of the lower limbs. Three loci have already been identified by genetic linkage studies on chromosomes 2p, 14q and 15q. Here we present linkage data from a large German fa...

journal_title：Human genetics

authors： Bürger J,Metzke H,Paternotte C,Schilling F,Hazan J,Reis A

更新日期：1996-09-01 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：:A reliable technique for staining human chromosomal nucleolar organizers (NOR's) with silver solutions is described. The NOR's can be selectively stained dark brown by silver solutions leaving the chromosome arms unstained and available for counterstaining with orcein or Giemsa dyes. Unequivocal identification of chro...

journal_title：Human genetics

authors： Bloom SE,Goodpasture C

更新日期：1976-10-28 00:00:00