Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome.

abstract：:The features of a child with Ehlers-Danlos syndrome type IV (EDS IV) resulting from a mutation in one COL3A1 allele were studied. The child was heterozygous for a G- to A-transition at the splice donor site of intron 41. It resulted in the splicing out of the exon 41 encoded sequence from alpha 1(III) mRNA and the del...

journal_title：Journal of medical genetics

authors： Sillence DO,Chiodo AA,Campbell PE,Cole WG

更新日期：1991-12-01 00:00:00

abstract：:Although a seasonal trend in the birth distribution has been reported in cystic fibrosis (CF), this finding is still very controversial. The birth distribution of 113 patients with cystic fibrosis born in Saguenay-Lac-St-Jean (complete ascertainment) was analysed using two different statistical methods. Our results sh...

journal_title：Journal of medical genetics

authors： Daigneault J,Aubin G,Simard F,De Braekeleer M

更新日期：1991-09-01 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：:We report on a boy with a maternal uniparental disomy for chromosome 14 (UPD(14)). At 7 years of age he was referred to us by the paediatrician because of symptoms of Prader-Willi syndrome (PWS). He showed short stature, obesity, mild developmental delay, cryptorchidism, and some mild dysmorphic features. The history ...

journal_title：Journal of medical genetics

authors： Hordijk R,Wierenga H,Scheffer H,Leegte B,Hofstra RM,Stolte-Dijkstra I

更新日期：1999-10-01 00:00:00

abstract：:An estimated 15-50% of the population experiences pain at any given time, at great personal and societal cost. Pain is the most common reason patients seek medical attention, and there is a high degree of individual variability in reporting the incidence and severity of symptoms. Research suggests that pain sensitivit...

journal_title：Journal of medical genetics

authors： Young EE,Lariviere WR,Belfer I

更新日期：2012-01-01 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：: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：:The accidental discovery, in an inguinal hernia, of a male gonad in a 67-year-old woman is reported. The association of an unambiguous female phenotype with a purely male karyotype and a male gonad suggests the diagnosis of testicular feminisation. The differential diagnosis, particularly of testicular feminisation wi...

journal_title：Journal of medical genetics

authors： Schindler AM,Csank-Brassert J

更新日期：1978-06-01 00:00:00

abstract：BACKGROUND:Inherited abnormalities of complement are found in ∼60% of patients with atypical haemolytic uraemic syndrome (aHUS). Such abnormalities are not fully penetrant. In this study, we have estimated the penetrance of the disease in three families with a CFH mutation (c.3643C>G; p. Arg1215Gly) in whom a common li...

journal_title：Journal of medical genetics

authors： Sansbury FH,Cordell HJ,Bingham C,Bromilow G,Nicholls A,Powell R,Shields B,Smyth L,Warwicker P,Strain L,Wilson V,Goodship JA,Goodship TH,Turnpenny PD

更新日期：2014-11-01 00:00:00

abstract：:Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. BBS expression varies both within and between families and diagnosis is often difficult. We sought to define the conditio...

journal_title：Journal of medical genetics

authors： Beales PL,Elcioglu N,Woolf AS,Parker D,Flinter FA

更新日期：1999-06-01 00:00:00

abstract：:We describe a patient with developmental delay, mild dysmorphic features, and monosomy of 7q35. Only one other patient with an interstitial deletion of this band has been previously reported. A review of clinical features of these two children did not show similarities in dysmorphic features. Reports of patients with ...

journal_title：Journal of medical genetics

authors： Fagan K,Kennedy C,Roddick L,Colley A

更新日期：1994-09-01 00:00:00

abstract：:Reaction to medical, social, and genetic implications of Marfan syndrome was evaluated by means of two questionnaires, the first after various tests before discussion of the diagnosis, the second after full discussion of the patient's diagnosis. Thirty-seven members of a family known to be at risk for Marfan syndrome ...

journal_title：Journal of medical genetics

authors： Bridges AB,Faed M,Boxer M,Gray JR,Bundy C,Murray A

更新日期：1992-02-01 00:00:00

abstract：BACKGROUND:Congenital malformations involving the Müllerian ducts are observed in around 5% of infertile women. Complete aplasia of the uterus, cervix, and upper vagina, also termed Müllerian aplasia or Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, occurs with an incidence of around 1 in 4500 female births, and occur...

journal_title：Journal of medical genetics

authors： Nik-Zainal S,Strick R,Storer M,Huang N,Rad R,Willatt L,Fitzgerald T,Martin V,Sandford R,Carter NP,Janecke AR,Renner SP,Oppelt PG,Oppelt P,Schulze C,Brucker S,Hurles M,Beckmann MW,Strissel PL,Shaw-Smith C

更新日期：2011-03-01 00:00:00

abstract：BACKGROUND:Biallelic germline mutations in the mismatch repair genes MLH1, MSH2, MSH6 or PMS2 cause a recessive childhood cancer syndrome characterised by early-onset malignancies and signs reminiscent of neurofibromatosis type 1 (NF1). Alluding to the underlying genetic defect, we refer to this syndrome as constitutio...

journal_title：Journal of medical genetics

authors： Kratz CP,Holter S,Etzler J,Lauten M,Pollett A,Niemeyer CM,Gallinger S,Wimmer K

更新日期：2009-06-01 00:00:00

abstract：BACKGROUND:There are few empirical data to inform the debate surrounding the use and regulation of direct-to-consumer (DTC) genome-wide disease risk tests. This study aimed to determine the long term psychological, behavioural, and clinical impacts of genomic risk testing for common disease. METHODS:The Scripps Genomi...

journal_title：Journal of medical genetics

authors： Bloss CS,Wineinger NE,Darst BF,Schork NJ,Topol EJ

更新日期：2013-06-01 00:00:00

abstract：:As the variability and possible clinical significance of palm increase abnormalities receive greater attention, an accurate and objective method for evaluating the palm increase variants is required. A new method is described employing a topographic approach. A network of co-ordinates drawn on the palm prints enables ...

journal_title：Journal of medical genetics

authors： Dar H,Schmidt R

更新日期：1976-08-01 00:00:00

abstract：:The macrophage resistance gene NRAMP1 regulates priming/activation of macrophages for enhanced TNF alpha, IL 1 beta, and MHC class II expression. Since all of these functions are of potential importance in the induction or maintenance or both of autoimmune disease, samples from the Arthritis and Rheumatism Council's r...

journal_title：Journal of medical genetics

authors： Shaw MA,Clayton D,Atkinson SE,Williams H,Miller N,Sibthorpe D,Blackwell JM

更新日期：1996-08-01 00:00:00

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 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: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:Posterior polar cataract is a clinically distinctive opacity located at the back of the lens. It is commonly acquired in age related cataract, and may infrequently occur in pedigrees with congenital cataract. To date, five loci for autosomal dominant congenital posterior polar cataract have been identified. ...

journal_title：Journal of medical genetics

authors： Pras E,Mahler O,Kumar V,Frydman M,Gefen N,Pras E,Hejtmancik JF

更新日期：2006-10-01 00:00:00

abstract：BACKGROUND:Ichthyosis and neurological involvement occur in relatively few known Mendelian disorders caused by mutations in genes relevant both for epidermis and neural function. OBJECTIVES:To identify the cause of a similar phenotype of ichthyotic keratoderma, spasticity, mild hypomyelination (on MRI) and dysmorphic ...

journal_title：Journal of medical genetics

authors： Kutkowska-Kaźmierczak A,Rydzanicz M,Chlebowski A,Kłosowska-Kosicka K,Mika A,Gruchota J,Jurkiewicz E,Kowalewski C,Pollak A,Stradomska TJ,Kmieć T,Jakubowski R,Gasperowicz P,Walczak A,Śladowski D,Jankowska-Steifer E,Kornisze

更新日期：2018-06-01 00:00:00

abstract：BACKGROUND:Truncus arteriosus (TA) is characterised by failure of septation of the outflow tract into aortic and pulmonary trunks and is associated with high morbidity and mortality. Although ranked among the least common congenital heart defects, TA provides an excellent model for the role of individual genes in cardi...

journal_title：Journal of medical genetics

authors： Shaheen R,Al Hashem A,Alghamdi MH,Seidahmad MZ,Wakil SM,Dagriri K,Keavney B,Goodship J,Alyousif S,Al-Habshan FM,Alhussein K,Almoisheer A,Ibrahim N,Alkuraya FS

更新日期：2015-05-01 00:00:00

abstract：:An association of ocular colobomata and congenital heart disease was observed in seven patients. Two of these were maternal half sisters whose mother also had ocular colobomata. All the patients had normal karyotypes. There was a high incidence of other associated abnormalities involving the central nervous, skeletal,...

journal_title：Journal of medical genetics

authors： Ho CK,Kaufman RL,Podos SM

更新日期：1975-09-01 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 cap capacity in nine Duchenne muscular dystrophy (DMD) patients and in 23 healthy male subjects (14 adults and nine neonates) has been investigated by inducing capping of HLA molecules. The evaluation of capping percentages ranged in healthy controls from 44 to 61 with a mean value of 53.39 +/- 4.89, while DMD pat...

journal_title：Journal of medical genetics

authors： Sensi A,Venturoli A,Traniello S,Lucci M,Vullo C,Conighi C,Mattiuz PL,Båricordi OR

更新日期：1984-06-01 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：:DNA from 20 Italian haemophilia B patients was analysed by the Southern blotting technique and hybridisation to a factor IX cDNA probe. A large deletion of factor IX gene was detected in one patient with antibodies to the infused factor; the EcoRI pattern of the other 19 subjects examined was normal. ...

journal_title：Journal of medical genetics

authors： Bernardi F,del Senno L,Barbieri R,Buzzoni D,Gambari R,Marchetti G,Conconi F,Panicucci F,Positano M,Pitruzzello S

更新日期：1985-08-01 00:00:00

abstract：:An X-linked pattern of transmission observed in four families with familial mental retardation in several generations was associated with a probable secondary constriction at the distal end of the q arms of the X chromosome. Twenty retarded males and no retarded females were observed. All available live retarded males...

journal_title：Journal of medical genetics

authors： Harvey J,Judge C,Wiener S

更新日期：1977-02-01 00:00:00

abstract：:Multiple vertebral segmentation defects occur in a group of conditions variably associated with anomalies of other organ systems. This report describes a female child in whom a deletion of chromosome 18 (18q22.2-->qter) is associated with congenital anomalies including multiple vertebral segmentation defects resemblin...

journal_title：Journal of medical genetics

authors： Dowton SB,Hing AV,Sheen-Kaniecki V,Watson MS

更新日期：1997-05-01 00:00:00