Haematological and obstetric aspects of antenatal diagnosis of beta-thalassaemia: experience with 200 cases.

abstract：:The main purpose of this study was to see if the offspring of surviving neuroblastoma, ganglioneuroblastoma, or ganglioneuroma patients have themselves a risk for developing tumours. No such risk was found. There was a total of 45 liveborn children who were all healthy. These children have passed through about 37 life...

journal_title：Journal of medical genetics

authors： Bundey S,Evans K

更新日期：1982-02-01 00:00:00

abstract：AIMS AND BACKGROUND:Mutations in the TARDBP gene, which encodes the TAR DNA binding protein (TDP-43), have been described in individuals with familial and sporadic amyotrophic lateral sclerosis (ALS). We screened the TARDBP gene in 285 French sporadic ALS patients to assess the frequency of TARDBP mutations in ALS. RE...

journal_title：Journal of medical genetics

authors： Daoud H,Valdmanis PN,Kabashi E,Dion P,Dupré N,Camu W,Meininger V,Rouleau GA

更新日期：2009-02-01 00:00:00

abstract：:Cytological and cytogenetic studies were performed on nucleated fetal cells present in chorionic villus transport medium. The erythroblastic origin of these cells was shown. Fetal erythroblasts in spontaneous mitosis were frequently observed; chromosome counts were obtained from them but poor quality often prevented b...

journal_title：Journal of medical genetics

authors： Terzoli G,Cartolano R,Rossella F,Cantù-Rajnoldi A,Brambati B,Fraccaro M,Simoni G

更新日期：1992-10-01 00:00:00

abstract：:BACKGROUND Mutations in SCN1A can cause genetic epilepsy with febrile seizures plus (GEFS+, inherited missense mutations) or Dravet syndrome (DS, de novo mutations of all types). Although the mutational spectra are distinct, these disorders share major features and 10% of DS patients have an inherited SCN1A mutation. ...

journal_title：Journal of medical genetics

authors： Depienne C,Trouillard O,Gourfinkel-An I,Saint-Martin C,Bouteiller D,Graber D,Barthez-Carpentier MA,Gautier A,Villeneuve N,Dravet C,Livet MO,Rivier-Ringenbach C,Adam C,Dupont S,Baulac S,Héron D,Nabbout R,Leguern E

更新日期：2010-06-01 00:00:00

abstract：:Fetal hypokinesia or akinesia encompasses a broad spectrum of disorders, united by impaired movement in utero. Often, the underlying aetiology is genetic in origin, affecting part of the neuromuscular system. The affordable and high-throughput nature of next-generation DNA sequencing has led to an explosion in disease...

journal_title：Journal of medical genetics

authors： Beecroft SJ,Lombard M,Mowat D,McLean C,Cairns A,Davis M,Laing NG,Ravenscroft G

更新日期：2018-08-01 00:00:00

abstract：:The Antley-Bixler syndrome has been thought to be caused by an autosomal recessive gene. However, patients with this phenotype have been reported with a new dominant mutation at the FGFR2 locus as well as in the offspring of mothers taking the antifungal agent fluconazole during early pregnancy. In addition to the cra...

journal_title：Journal of medical genetics

authors： Reardon W,Smith A,Honour JW,Hindmarsh P,Das D,Rumsby G,Nelson I,Malcolm S,Adès L,Sillence D,Kumar D,DeLozier-Blanchet C,McKee S,Kelly T,McKeehan WL,Baraitser M,Winter RM

更新日期：2000-01-01 00:00:00

abstract：:Gaucher disease results, in most patients, from mutations in the gene encoding glucocerebrosidase. Mutation D409H is the third most frequent in Spanish patients, accounting for 5.7% of all mutated alleles. This allele is associated mainly with the neurological forms of the disease. Recently, homozygosity for the D409H...

journal_title：Journal of medical genetics

authors： Chabás A,Gort L,Montfort M,Castelló F,Domínguez MC,Grinberg D,Vilageliu L

更新日期：1998-09-01 00:00:00

abstract：INTRODUCTION:The Tousled-like kinases 1 and 2 (TLK1 and TLK2) are involved in many fundamental processes, including DNA replication, cell cycle checkpoint recovery and chromatin remodelling. Mutations in TLK2 were recently associated with 'Mental Retardation Autosomal Dominant 57' (MRD57, MIM# 618050), a neurodevelopme...

journal_title：Journal of medical genetics

authors： Pavinato L,Villamor-Payà M,Sanchiz-Calvo M,Andreoli C,Gay M,Vilaseca M,Arauz-Garofalo G,Ciolfi A,Bruselles A,Pippucci T,Prota V,Carli D,Giorgio E,Radio FC,Antona V,Giuffrè M,Ranguin K,Colson C,De Rubeis S,Dimartino

更新日期：2020-12-15 00:00:00

abstract：:A child with unilateral radial aplasia, asymmetry, other malformations, and severe physical and mental retardation is reported. In blood and bone marrow cultures a low mosaicism for trisomy 22 was found. In a few cells a chromosome 22 was missing. The importance of early cytogenetic analysis on large numbers of cells ...

journal_title：Journal of medical genetics

authors： Dulitzky F,Shabtal F,Zlotogora J,Halbrecht I,Elian E

更新日期：1981-12-01 00:00:00

abstract：:Neurofibromatosis and myotonic dystrophy have occurred in ten members of a nonconsanguineous family with a high degree of concordance. The expression of neurofibromatosis is peripheral, and the expression of myotonic dystrophy has produced at least moderately severe disability. Neither disease has appeared to alter th...

journal_title：Journal of medical genetics

authors： Ichikawa K,Crosley CJ,Culebras A,Weitkamp L

更新日期：1981-04-01 00:00:00

abstract：:In this paper the costs and benefits associated with DNA diagnosis of subjects who are at risk of having a child with a monogenic disease and who seek genetic counselling because of their reproductive plans are predicted under various assumptions using a mathematical model. Four monogenic diseases have been considered...

journal_title：Journal of medical genetics

authors： van der Riet AA,van Hout BA,Rutten FF

更新日期：1997-09-01 00:00:00

abstract：BACKGROUND:Autistic spectrum disorders (ASDs) with developmental delay and seizures are a genetically heterogeneous group of diseases caused by at least 700 different genes. Still, a number of cases remain genetically undiagnosed. OBJECTIVE:The objective of this study was to identify and characterise pathogenic varian...

journal_title：Journal of medical genetics

authors： Hubert L,Cannata Serio M,Villoing-Gaudé L,Boddaert N,Kaminska A,Rio M,Lyonnet S,Munnich A,Poirier K,Simons M,Besmond C

更新日期：2020-02-01 00:00:00

abstract：:A new case of trisomy 19q13.2-->qter is described in a male child which was caused by a maternal balanced translocation (13;19)(p13;q13.2). The major clinical features detected in the patient included the following: facial dysmorphism, bilateral coloboma, narrow and hypoplastic nails, cardiac malformations (Fallot's t...

journal_title：Journal of medical genetics

authors： Valerio D,Lavorgna F,Scalona M,Conte A

更新日期：1993-08-01 00:00:00

abstract：:Linkage between the locus for cystic fibrosis and other genetic markers was explored in 40 families from Birmingham and 20 from Manchester. No strong evidence was found for linkage with any of the markers examined. There was evidence against close linkage with ABO, HLA, and Rh. ...

journal_title：Journal of medical genetics

authors： Goodchild MC,Edwards JH,Glenn KP,Grindey C,Harris R,Mackintosh P,Wentzel J

更新日期：1976-12-01 00:00:00

abstract：:The families of 102 index patients with bladder exstrophy treated at The Hospital for Sick Children, Great Ormond Street were studied in an attempt to arrive at an empirical risk of recurrence for sibs. Of the 102 patients, 89 had complete exstrophy, eight had partial exstrophy (variant), and five had exstrophy of the...

journal_title：Journal of medical genetics

authors： Ives E,Coffey R,Carter CO

更新日期：1980-04-01 00:00:00

abstract：:Mutations in the 12S rRNA gene of the mitochondrial genome are responsible for maternally inherited non-syndromic hearing loss (NSHL), and for increased susceptibility to the ototoxicity of aminoglycoside antibiotics. Among these mutations, 1555A-->G is the most prevalent in all populations tested so far. Recently, th...

journal_title：Journal of medical genetics

authors： Rodríguez-Ballesteros M,Olarte M,Aguirre LA,Galán F,Galán R,Vallejo LA,Navas C,Villamar M,Moreno-Pelayo MA,Moreno F,del Castillo I

更新日期：2006-11-01 00:00:00

abstract：:To sibs and an unrelated single patient have a combination of iris coloboma, ptosis, hypertelorism, broad nasal bridge, short stature, and mental retardation. The London Dysmorphology Database was used to determine whether this is a new syndrome. ...

journal_title：Journal of medical genetics

authors： Baraitser M,Winter RM

更新日期：1988-01-01 00:00:00

abstract：:A mild, non-transfusion dependent, beta thalassaemia phenotype is described in a Dutch patient homozygous for a mutation in the cleavage-polyadenylation sequence of the beta globin gene. The molecular basis of the mutation, AATAAA greater than AATGAA, was determined using denaturing gradient gel electrophoresis (DGGE)...

journal_title：Journal of medical genetics

authors： Losekoot M,Fodde R,Harteveld CL,van Heeren H,Giordano PC,Went LN,Bernini LF

更新日期：1991-04-01 00:00:00

abstract：:By using the genetic linkage data between the facioscapulohumeral muscular dystrophy (FSHD) gene and 57 markers on various autosomes, we have constructed an exclusion map for this disorder. The maximum likelihood location of the FSHD gene and the percentage of the excluded areas on each chromosome are presented here. ...

journal_title：Journal of medical genetics

authors： Sarfarazi M,Upadhyaya M,Padberg G,Pericak-Vance M,Siddique T,Lucotte G,Lunt P

更新日期：1989-08-01 00:00:00

abstract：BACKGROUND:The cohesin complex plays an essential role in genome organisation and cell division. A full complement of the cohesin complex and its regulators is important for normal development, since heterozygous mutations in genes encoding these components can be sufficient to produce a disease phenotype. The implicat...

journal_title：Journal of medical genetics

authors： Schierding W,Horsfield JA,O'Sullivan JM

更新日期：2020-09-11 00:00:00

abstract：:The molecular characterisation of chromosomal aberrations in Xp22.3 has established the map position of several genes with mutations resulting in diverse phenotypes such as short stature (SS), chondrodysplasia punctata (CDPX), mental retardation (MRX), ichthyosis (XLI), and Kallmann syndrome (KAL). We describe the cli...

journal_title：Journal of medical genetics

authors： Meindl A,Hosenfeld D,Brückl W,Schuffenhauer S,Jenderny J,Bacskulin A,Oppermann HC,Swensson O,Bouloux P,Meitinger T

更新日期：1993-10-01 00:00:00

abstract：:A total of 592 cells was examined from 38 normal humans who had either small or very large Y chromosomes. Chromosome identification was based on the QFQ technique. The distance between the X and Y chromosome was measured from centromere to centromere. The spatial distance between X and Y was significantly smaller when...

journal_title：Journal of medical genetics

authors： Dosik D,Verma RS

更新日期：1983-12-01 00:00:00

abstract：:Cardio-facio-cutaneous (CFC) syndrome, Noonan syndrome (NS), and Costello syndrome (CS) are clinically related developmental disorders that have been recently linked to mutations in the RAS/MEK/ERK signalling pathway. This study was a mutation analysis of the KRAS, BRAF, MEK1 and MEK2 genes in a total of 130 patients ...

journal_title：Journal of medical genetics

authors： Nava C,Hanna N,Michot C,Pereira S,Pouvreau N,Niihori T,Aoki Y,Matsubara Y,Arveiler B,Lacombe D,Pasmant E,Parfait B,Baumann C,Héron D,Sigaudy S,Toutain A,Rio M,Goldenberg A,Leheup B,Verloes A,Cavé H

更新日期：2007-12-01 00:00:00

abstract：:We have performed linkage analysis in seven Italian families, in which mild osteogenesis imperfecta (OI) segregated as a dominant trait, by means of six DNA restriction fragment length polymorphisms (RFLPs) of type I collagen genes. OI type I was linked to the alpha 1(I) gene (COL1A1) in two families, and to the alpha...

journal_title：Journal of medical genetics

authors： Mottes M,Cugola L,Cappello N,Pignatti PF

更新日期：1990-06-01 00:00:00

abstract：BACKGROUND:There is increasing interest in the influence of host genetic factors on hepatic fibrosis, and whether genetic markers can reliably identify subjects at risk of developing severe disease. We hypothesised that hepatitis C virus (HCV) infected subjects with progressive fibrosis, classified using strict criteri...

journal_title：Journal of medical genetics

authors： Richardson MM,Powell EE,Barrie HD,Clouston AD,Purdie DM,Jonsson JR

更新日期：2005-07-01 00:00:00

abstract：:We report here a father and daughter with digital abnormalities, nasolacrimal duct obstruction, and variable alopecia. The father had a cleft lip and palate and the daughter had choanal atresia. We propose they both have the EEC syndrome and show the variable expressivity of this disorder. Choanal atresia has not been...

journal_title：Journal of medical genetics

authors： Christodoulou J,McDougall PN,Sheffield LJ

更新日期：1989-09-01 00:00:00

abstract：BACKGROUND:Distal hereditary motor neuronopathies (dHMN) are a group of genetic disorders characterised by motor neuron degeneration leading to muscle weakness that are caused by mutations in various genes. HMNJ is a distinct form of the disease that has been identified in patients from the Jerash region of Jordan. Our...

journal_title：Journal of medical genetics

authors： Ververis A,Dajani R,Koutsou P,Aloqaily A,Nelson-Williams C,Loring E,Arafat A,Mubaidin AF,Horany K,Bader MB,Al-Baho Y,Ali B,Muhtaseb A,DeSpenza T Jr,Al-Qudah AA,Middleton LT,Zamba-Papanicolaou E,Lifton R,Christodoulou

更新日期：2020-03-01 00:00:00

abstract：BACKGROUND:Rare variants in hundreds of genes have been implicated in developmental delay (DD), intellectual disability (ID) and neurobehavioural phenotypes. TNRC6B encodes a protein important for RNA silencing. Heterozygous truncating variants have been reported in three patients from large cohorts with autism, but no...

journal_title：Journal of medical genetics

authors： Granadillo JL,P A Stegmann A,Guo H,Xia K,Angle B,Bontempo K,Ranells JD,Newkirk P,Costin C,Viront J,Stumpel CT,Sinnema M,Panis B,Pfundt R,Krapels IPC,Klaassens M,Nicolai J,Li J,Jiang Y,Marco E,Canton A,Latronico

更新日期：2020-10-01 00:00:00

abstract：:A variant chromosome 4 with a large G positive heterochromatic block is described and discussed in relation to chromosome 4 heteromorphisms observed with other banding techniques. The extra heterochromatin is C positive and fluoresces brilliantly with Q banding, but differs from Yqh with some methods of staining. ...

journal_title：Journal of medical genetics

authors： Docherty Z,Bowser-Riley SM

更新日期：1984-12-01 00:00:00

abstract：:Clinical and radiographic evaluation of an infant boy and his father revealed findings suggesting a new variant of spondylometaphyseal dysplasia with an apparently autosomal dominant mode of inheritance. The main clinical findings included short stature and marked ligamentous laxity in the infant. X-ray findings inclu...

journal_title：Journal of medical genetics

authors： García-Castro JM,Isales-Forsythe CM,Díaz de Garau P

更新日期：1982-04-01 00:00:00