Unknown syndrome: holoprosencephaly, congenital heart defects, and polydactyly.

abstract：:Several mutations in the extracellular matrix protein matrilin-3 cause a heterogeneous disease spectrum affecting skeletal tissues. We introduced three disease causing point mutations leading to single amino acid exchanges (R116W, T298M, C299S) in matrilin-3 and expressed the corresponding proteins in primary articula...

journal_title：Journal of medical genetics

authors： Otten C,Wagener R,Paulsson M,Zaucke F

更新日期：2005-10-01 00:00:00

abstract：:The evidence that genetic and immunogenetic influences operate in the causation of pre-eclampsia/eclampsia (gestosis) is reviewed. The problems of definitive diagnosis are discussed along with the possibility of a multifactorial aetiology. The difficulties of differentiating trigger and effector mechanisms are also co...

journal_title：Journal of medical genetics

authors： Scott JS,Jenkins DM

更新日期：1976-06-01 00:00:00

abstract：:The occurrence of primary lymphoedema with distichiasis is well recognised, but that the form of lymphoedema appears restricted to bilateral hyperplasia, as defined by lymphography, has not been reported. ...

journal_title：Journal of medical genetics

authors： Dale RF

更新日期：1987-03-01 00:00:00

abstract：:Split hand-split foot malformation (SHFM) is a genetically heterogeneous limb developmental defect characterised by the absence of digital rays and syndactyly of the remaining digits. Three disease loci have recently been mapped to chromosomes 7q21 (SHFM1), Xq26 (SHFM2), and 10q25 respectively (SHFM3). We report the m...

journal_title：Journal of medical genetics

authors： Raas-Rothschild A,Manouvrier S,Gonzales M,Farriaux JP,Lyonnet S,Munnich A

更新日期：1996-12-01 00:00:00

abstract：:DIDMOAD is usually considered an autosomal recessive condition, with wide phenotypic variation, but the possibility of mitochondrial mutations occurring in this condition has been considered. A 19 year old man presented with long standing diabetes mellitus, optic atrophy, and grand mal seizures. Further investigations...

journal_title：Journal of medical genetics

authors： Pilz D,Quarrell OW,Jones EW

更新日期：1994-04-01 00:00:00

abstract：BACKGROUND:Intellectual disability (ID) is a highly heterogeneous condition affecting 2% of the population worldwide. In a field study conducted in a highly inbred area of Northeastern Brazil, we investigated a consanguineous family in which seven adults presented syndromic ID. METHODS:Genome-Wide Human SNP Array 6.0 ...

journal_title：Journal of medical genetics

authors： Figueiredo T,Melo US,Pessoa AL,Nobrega PR,Kitajima JP,Correa I,Zatz M,Kok F,Santos S

更新日期：2015-02-01 00:00:00

abstract：:We have reviewed published reports on patients with segmental aneusomy for chromosome 1p36 to help geneticists and other health professionals in the recognition of this emerging chromosomal syndrome. Terminal deletions of the short arm of chromosome 1 are associated with hypotonia and developmental delay (usually seve...

journal_title：Journal of medical genetics

authors： Slavotinek A,Shaffer LG,Shapira SK

更新日期：1999-09-01 00:00:00

abstract：:The development of inexpensive high throughput methods to identify individual DNA sequence differences is important to the future growth of medical genetics. This has become increasingly apparent as epidemiologists, pathologists, and clinical geneticists focus more attention on the molecular basis of complex multifact...

journal_title：Journal of medical genetics

authors： Hacia JG,Collins FS

更新日期：1999-10-01 00:00:00

abstract：BACKGROUND:Chromosome 13q deletion is associated with varying phenotypes, which seem to depend on the location of the deleted segment. Although various attempts have been made to link the 13q deletion intervals to distinct phenotypes, there is still no acknowledged consensus correlation between the monosomy of distinct...

journal_title：Journal of medical genetics

authors： Ballarati L,Rossi E,Bonati MT,Gimelli S,Maraschio P,Finelli P,Giglio S,Lapi E,Bedeschi MF,Guerneri S,Arrigo G,Patricelli MG,Mattina T,Guzzardi O,Pecile V,Police A,Scarano G,Larizza L,Zuffardi O,Giardino D

更新日期：2007-01-01 00:00:00

abstract：BACKGROUND:A recent genetic study in mice and humans revealed the modulatory effect of MC1R (melanocortin-1 receptor) gene variants on kappa-opioid receptor mediated analgesia. It is unclear whether this gene affects basal pain sensitivity or the efficacy of analgesics acting at the more clinically relevant mu-opioid r...

journal_title：Journal of medical genetics

authors： Mogil JS,Ritchie J,Smith SB,Strasburg K,Kaplan L,Wallace MR,Romberg RR,Bijl H,Sarton EY,Fillingim RB,Dahan A

更新日期：2005-07-01 00:00:00

abstract：:Favism is a severe, acute haemolytic anaemia which occurs in about 20% of G6PD deficient subjects after ingestion of fava beans. Since not all G6PD deficient subjects are sensitive to fava beans, the possibility has been suggested that extra erythrocytic factors may play an important role in the susceptibility to haem...

journal_title：Journal of medical genetics

authors： Mareni C,Repetto L,Forteleoni G,Meloni T,Gaetani GF

更新日期：1984-08-01 00:00:00

abstract：:Abnormalities of dystrophin, the sarcoglycans, and laminin alpha2 are responsible for a subset of the muscular dystrophies. In this study we aim to characterise the nature and frequency of abnormalities of these proteins in an Australian population and to formulate an investigative algorithm to aid in approaching the ...

journal_title：Journal of medical genetics

authors： Jones KJ,Kim SS,North KN

更新日期：1998-05-01 00:00:00

abstract：:There is significant evidence for genetic and phenotypic heterogeneity in X linked retinitis pigmentosa (XLRP). We have studied the linkage of XLRP in four Irish families to a number of polymorphic DNA markers. We report linkage between the DXS7 (L1.28) locus and the XLRP locus (Z = 3.445, theta = 0.00). Combined with...

journal_title：Journal of medical genetics

authors： Farrar GJ,Geraghty MT,Moloney JM,McConnell DJ,Humphries P

更新日期：1988-04-01 00:00:00

abstract：:Angelman syndrome (AS) and Prader-Willi syndrome (PWS) have become the classical examples of genomic imprinting in man, as completely different phenotypes are generated by the absence of maternal (AS) or paternal (PWS) contributions to the q11-13 region of chromosome 15 as a result of deletion or uniparental disomy. A...

journal_title：Journal of medical genetics

authors： Meijers-Heijboer EJ,Sandkuijl LA,Brunner HG,Smeets HJ,Hoogeboom AJ,Deelen WH,van Hemel JO,Nelen MR,Smeets DF,Niermeijer MF

更新日期：1992-12-01 00:00:00

abstract：:The ICF syndrome is a rare disorder where patients show undercondensation of the heterochromatic blocks of chromosomes 1, 9, and 16 along with variable immunodeficiency. The undercondensation of the heterochromatic block appears to be restricted to a portion of PHA stimulated T cells. Patients with this syndrome also ...

journal_title：Journal of medical genetics

authors： Stacey M,Bennett MS,Hulten M

更新日期：1995-07-01 00:00:00

abstract：:An infant with congenital chondrodysplasia punctata with a secondary deformation of umbilical cord hernia is reported. The paper discusses deformation syndromes as anomalies due to unusual mechanical or intrinsic factors. ...

journal_title：Journal of medical genetics

authors： Chandavasu O,Desposito F

更新日期：1986-02-01 00:00:00

abstract：BACKGROUND:Autosomal recessive hereditary spastic paraplegias (AR-HSP) constitute a heterogeneous group of neurodegenerative diseases involving pyramidal tracts dysfunction. The genes responsible for many types of AR-HSPs remain unknown. We attempted to identify the gene responsible for AR-HSP with optic atrophy and ne...

journal_title：Journal of medical genetics

authors： Shimazaki H,Takiyama Y,Ishiura H,Sakai C,Matsushima Y,Hatakeyama H,Honda J,Sakoe K,Naoi T,Namekawa M,Fukuda Y,Takahashi Y,Goto J,Tsuji S,Goto Y,Nakano I,Japan Spastic Paraplegia Research Consortium (JASPAC).

更新日期：2012-12-01 00:00:00

abstract：:A new variant of G6PD associated with chronic non-spherocytic haemolytic anaemia (CNSHA) in an Irish male is described. This variant is unique in that it has a normal electrophoretic mobility, Michaelis constant for G6P and NADP, and a normal pH optimum, together with a marked increase in utilisation of the substrate ...

journal_title：Journal of medical genetics

authors： McCann SR,Smithwick AM,Temperley IJ,Tipton K

更新日期：1980-06-01 00:00:00

abstract：:A female child with multiple vertebral and rib abnormalities is described. ...

journal_title：Journal of medical genetics

authors： Young ID,Moore JR

更新日期：1984-02-01 00:00:00

abstract：:A 2-year-old boy with mental and growth retardation is presented; he has a 46,XY,r(10)(p15q26) chromosome complement. Five previously reported cases of ring chromosome 10 were reviewed and compared with the present case in an attempt to delineate a clinical syndrome. Since the first description, identified by Giemsa b...

journal_title：Journal of medical genetics

authors： Nakai H,Adachi M,Katsushima N,Yamazaki N,Sakamoto M,Tada K

更新日期：1983-04-01 00:00:00

abstract：:The association of maternal uniparental disomy for chromosome 7 and postnatal growth failure has been reported in four cases and suggests the presence of genomic imprinting of one or more growth related genes on chromosome 7. However, in the reported cases, the possibility of homozygosity for a recessive mutation coul...

journal_title：Journal of medical genetics

authors： Langlois S,Yong SL,Wilson RD,Kwong LC,Kalousek DK

更新日期：1995-11-01 00:00:00

abstract：BACKGROUND:Sensenbrenner syndrome is a heterogeneous ciliopathy that is characterised by skeletal and ectodermal anomalies, accompanied by chronic renal failure, heart defects, liver fibrosis and other features. OBJECTIVE:To identify an additional causative gene in Sensenbrenner syndrome. METHODS:Single nucleotide po...

journal_title：Journal of medical genetics

authors： Arts HH,Bongers EM,Mans DA,van Beersum SE,Oud MM,Bolat E,Spruijt L,Cornelissen EA,Schuurs-Hoeijmakers JH,de Leeuw N,Cormier-Daire V,Brunner HG,Knoers NV,Roepman R

更新日期：2011-06-01 00:00:00

abstract：:There are 23 females known with Duchenne or Becker muscular dystrophy (DMD or BMD) who have X;autosome translocations that disrupt the X chromosome within band p21. A female with a t(X;4)(p21;q35) translocation was identified prenatally at routine amniocentesis. At birth, she was found to have a raised CK level, consi...

journal_title：Journal of medical genetics

authors： Bodrug SE,Roberson JR,Weiss L,Ray PN,Worton RG,Van Dyke DL

更新日期：1990-07-01 00:00:00

abstract：:To define the PKD1 locus further, the gene involved in the most frequent form of adult polycystic kidney disease, probes from 16 polymorphic loci were mapped on 16p13.1-pter with the combined use of cell lines containing rearranged chromosomes and family studies. Five breakpoints in the distal part of 16p arbitrarily ...

journal_title：Journal of medical genetics

authors： Breuning MH,Snijdewint FG,Brunner H,Verwest A,Ijdo JW,Saris JJ,Dauwerse JG,Blonden L,Keith T,Callen DF

更新日期：1990-10-01 00:00:00

abstract：:We report a new case of Rubinstein-Taybi syndrome with a hypoplastic right kidney, persistent pulmonary hypertension, and mitral valve regurgitation. Other pertinent features included broad thumbs, broad big toes, syndactyly of the third and fourth fingers bilaterally, beaked nose, broad columella of the nose, patent ...

journal_title：Journal of medical genetics

authors： Kanjilal D,Basir MA,Verma RS,Rajegowda BK,Lala R,Nagaraj A

更新日期：1992-09-01 00:00:00

abstract：BACKGROUND:Familial haemophagocytic lymphohistiocytosis (FHL) has an autosomal recessive mode of inheritance and consists of at least three subtypes. FHL2 subtype with perforin (PRF1) mutation accounts for 30% of all FHL cases, while FHL with MUNC13-4 mutation was recently identified and designated as FHL3 subtype. OB...

journal_title：Journal of medical genetics

authors： Yamamoto K,Ishii E,Sako M,Ohga S,Furuno K,Suzuki N,Ueda I,Imayoshi M,Yamamoto S,Morimoto A,Takada H,Hara T,Imashuku S,Sasazuki T,Yasukawa M

更新日期：2004-10-01 00:00:00

abstract：:A family is described in which 2 sibs had similar congenital abnormalities. Chromosome investigation of the mother and another child disclosed they were carriers of a translocation t(18;21)(q21;q22). The karyotype of one of the abnormal infants was determined and was found to be consistent with partial trisomy 18,46,X...

journal_title：Journal of medical genetics

authors： Niazi M,Coleman DV,Saldaña-Garcia P

更新日期：1978-04-01 00:00:00

abstract：:This paper describes a genetically male infant with impaired male sex development and partial 9p monosomy. The external genitalia were ambiguous with microphallus (penile length at birth 10 mm, mean age matched normal length 29 mm (SD 5)), hypospadias, and hypoplastic scrotum. The tests were undescended and severely h...

journal_title：Journal of medical genetics

authors： Ogata T,Muroya K,Matsuo N,Hata J,Fukushima Y,Suzuki Y

更新日期：1997-04-01 00:00:00

abstract：:Genetic testing for hereditary cancer predisposition has evolved rapidly in recent years with the discovery of new genes, but there is much debate over the clinical utility of testing genes for which there are currently limited data regarding the degree of associated cancer risk. To address the discrepancies that have...

journal_title：Journal of medical genetics

authors： Taylor A,Brady AF,Frayling IM,Hanson H,Tischkowitz M,Turnbull C,Side L,UK Cancer Genetics Group (UK-CGG).

更新日期：2018-06-01 00:00:00

abstract：:A study of mutation, biological fitness, and patterns of family building in Huntington's chorea has been carried out, based on a previously reported population study of the disorder in South Wales. No unequivocal new mutation was identified among 101 kindreds containing 418 affected persons, which supports the extreme...

journal_title：Journal of medical genetics

authors： Walker DA,Harper PS,Newcombe RG,Davies K

更新日期：1983-02-01 00:00:00