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你正在浏览European Journal of Medical Genetics期刊下所有文献
  • A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12.

    abstract：:A 9-year-old girl born to healthy parents showed manifestations suggestive of ataxia telangiectasia (AT), such as short stature, sudden short bouts of horizontal and rotary nystagmus, a weak and dysarthric voice, rolling gait, unstable posture, and atactic movements. She did not show several cardinal features typical ...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2011.08.001

    authors： Bartsch O,Schindler D,Beyer V,Gesk S,van't Slot R,Feddersen I,Buijs A,Jaspers NG,Siebert R,Haaf T,Poot M

    更新日期：2012-01-01 00:00:00

  • Charcot-Marie-Tooth caused by a copy number variation in myelin protein zero.

    abstract：INTRODUCTION:Charcot-Marie-Tooth disease (CMT) is the most common inherited disorder of the peripheral nervous system. The majority has a duplication of the peripheral myelin protein 22. CMT is otherwise caused by point mutations or small insertions/deletions in one of the 44 known CMT genes. METHODS AND RESULTS:Conve...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2011.06.006

    authors： Høyer H,Braathen GJ,Eek AK,Skjelbred CF,Russell MB

    更新日期：2011-11-01 00:00:00

  • Novel homozygous mutations in Desert hedgehog gene in patients with 46,XY complete gonadal dysgenesis and prediction of its structural and functional implications by computational methods.

    abstract：:Male to female sex reversal in patients with 46,XY karyotype results from the failure of development of testis which may be due to mutations in the SRY gene. Only 10-15% of cases of 46,XY gonadal dysgenesis are accounted for by different types of mutations in the SRY gene. Hence, majority of such patients may have mut...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2011.04.010

    authors： Das DK,Sanghavi D,Gawde H,Idicula-Thomas S,Vasudevan L

    更新日期：2011-11-01 00:00:00

  • A de novo 0.57 Mb microdeletion in chromosome 11q13.1 in a patient with speech problems, autistic traits, dysmorphic features and multiple endocrine neoplasia type 1.

    abstract：:We report a 21-year-old patient with speech problems, autistic traits, dysmorphic facial features, broad thumbs with short distal phalanges and a pancreatic gastrinoma. Array-CGH demonstrated a 0.57 Mb de novo deletion in chromosome 11q13.1. The deleted region contains several genes which likely contribute to the pati...

    journal_title：European journal of medical genetics

    pub_type： 信件

    doi：10.1016/j.ejmg.2011.04.006

    authors： Mohrmann I,Gillessen-Kaesbach G,Siebert R,Caliebe A,Hellenbroich Y

    更新日期：2011-07-01 00:00:00

  • A 17q12 chromosomal duplication associated with renal disease and esophageal atresia.

    abstract：:Chromosomal imbalance of the 17q12 region (which includes the HNF1B transcription factor) has recently emerged as a frequent condition. 17q12 deletion was found in patients with various renal abnormalities, diabetes mellitus (MODY type 5), genital tract or liver test abnormalities, while 17q12 duplication was identifi...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2011.03.010

    authors： Faguer S,Chassaing N,Bandin F,Prouheze C,Arveiler B,Rooryck C,Nogier MB,Chauveau D,Calvas P,Decramer S

    更新日期：2011-07-01 00:00:00

  • Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation.

    abstract：:Mosaicism involving a normal cell line and an unbalanced autosomal translocation are rare. In this study we present three new cases with such a mosaicism, which were detected by Single Nucleotide Polymorphism (SNP) array analysis in our routine diagnostic setting. These cases were further characterized using Fluoresce...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2011.05.002

    authors： Gijsbers AC,Dauwerse JG,Bosch CA,Boon EM,van den Ende W,Kant SG,Hansson KM,Breuning MH,Bakker E,Ruivenkamp CA

    更新日期：2011-07-01 00:00:00

  • A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis.

    abstract：:We report here a 44 years-old patient with late-onset partial lipodystrophy, mental retardation, epilepsy, ichtyosis and glomerulonephritis, carrying a 10 Mb duplication of the chromosome 5q31.3-5q32.1 region detected by array-CGH. ...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2011.01.005

    authors： Faguer S,De Sandre-Giovannoli A,Hemery M,Lévy N,Lamant L,Arveiler B,Rooryck C,Prouheze C,Vigouroux A,Chauveau D,Calvas P,Chassaing N

    更新日期：2011-05-01 00:00:00

  • A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation.

    abstract：:Mental retardation (MR) is the most frequent cause of serious handicap in children and young adults. Despite recent progress, in most cases the molecular defects underlying this disorder remain unknown. Linkage studies followed by mutational analysis of known X-chromosomal genes related to mental retardation (MRX gene...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2011.01.010

    authors： Rejeb I,Ben Jemaa L,Abaied L,Kraoua L,Saillour Y,Maazoul F,Chelly J,Chaabouni H

    更新日期：2011-05-01 00:00:00

  • A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia.

    abstract：:The increasing use of whole-genome array screening has revealed the important role of DNA copy-number variations in the pathogenesis of neurodevelopmental disorders and several recurrent genomic disorders have been defined during recent years. However, some variants considered to be pathogenic have also been observed ...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.11.005

    authors： Männik K,Parkel S,Palta P,Zilina O,Puusepp H,Esko T,Mägi R,Nõukas M,Veidenberg A,Nelis M,Metspalu A,Remm M,Ounap K,Kurg A

    更新日期：2011-03-01 00:00:00

  • Evidence of a mechanism for isodicentric chromosome Y formation in a 45,X/46,X,idic(Y)(p11.31)/46,X,del(Y)(p11.31) mosaic karyotype.

    abstract：:Abnormalities involving sex chromosomes account for approximately 0.5% of live births. The phenotypes of individuals with mosaic cell lines having structural aberrations of the X and Y chromosomes are variable and hard to accurately predict. Phenotypes associated with sex chromosome mosaicism range from Turner syndrom...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.11.002

    authors： Reshmi SC,Miller JL,Deplewski D,Close C,Henderson LJ,Littlejohn E,Schwartz S,Waggoner DJ

    更新日期：2011-03-01 00:00:00

  • Polyalanine repeat expansion mutation of the HOXD13 gene in a Chinese family with unusual clinical manifestations of synpolydactyly.

    abstract：:Synpolydactyly (SPD) is an autosomal dominant limb malformation caused by mutations in the gene HOXD13. We investigated a Chinese family in which three individuals across three generations were affected with distinctive limb malformations. We extracted genomic DNA from the affected and three unaffected individuals fro...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.10.007

    authors： Gong L,Wang B,Wang J,Yu H,Ma X,Yang J

    更新日期：2011-03-01 00:00:00

  • Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.

    abstract：:Hereditary spastic paraplegia (HSP) represents a large group of neurological disorders characterized by progressive spasticity of the lower limbs. One subtype of HSP shows an autosomal recessive form of inheritance with thin corpus callosum (ARHSP-TCC), and displays genetic heterogeneity with four known loci. We ident...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.10.006

    authors： Abdel Aleem A,Abu-Shahba N,Swistun D,Silhavy J,Bielas SL,Sattar S,Gleeson JG,Zaki MS

    更新日期：2011-01-01 00:00:00

  • Ring chromosome 12 with inverted microduplication of 12p13.3 involving the Von Willebrand Factor gene associated with cryptogenic stroke in a young adult male.

    abstract：:We report a 35-year-old male with a ring chromosome 12 originally diagnosed 20 years prior to presentation with an ischemic stroke. Array CGH analysis revealed a sub-microscopic microdeletion and microduplication within 12p13.3 and a microdeletion in 12q24.33. FISH analysis further revealed that the duplication was in...

    journal_title：European journal of medical genetics

    pub_type： 信件

    doi：10.1016/j.ejmg.2010.09.014

    authors： Nik-Zainal S,Cotter PE,Willatt LR,Abbott K,O'Brien EW

    更新日期：2011-01-01 00:00:00

  • Current perspectives on the etiology of agnathia-otocephaly.

    abstract：:Agnathia-otocephaly, a rare, sporadic and lethal malformation, is characterized by microstomia (small mouth), aglossia (absence of the tongue), agnathia (absence of the lower jaw) and abnormally positioned ears. It is a principal anomaly derived from the first pharyngeal arch as a consequence of failed mesenchymal mig...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2010.09.002

    authors： Gekas J,Li B,Kamnasaran D

    更新日期：2010-11-01 00:00:00

  • Determination of the deletion breakpoints in two patients with contiguous gene syndrome encompassing CYBB gene.

    abstract：:X-linked chronic granulomatous disease is a primary immunodeficiency caused by mutations in CYBB. Although large deletions involving CYBB are known to cause contiguous gene syndrome (CGS), only a few patients have been studied precisely at the molecular levels. Our study determined the deletion breakpoints in two pati...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.08.003

    authors： Yamada M,Arai T,Oishi T,Hatano N,Kobayashi I,Kubota M,Suzuki N,Yoda M,Kawamura N,Ariga T

    更新日期：2010-11-01 00:00:00

  • PPP2R2C, a gene disrupted in autosomal dominant intellectual disability.

    abstract：:Intellectual disability (ID) comprises a vast collection of clinically diverse and genetically heterogeneous disorders characterized primarily by central nervous system defects of varying severity with or without additional dysmorphic, metabolic, neuromuscular or psychiatric features. Much progress has been made to el...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.06.006

    authors： Backx L,Vermeesch J,Pijkels E,de Ravel T,Seuntjens E,Van Esch H

    更新日期：2010-09-01 00:00:00

  • Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum.

    abstract：:Coffine-Siris syndrome or "fifth digit" syndrome is a multiple congenital anomaly-mental retardation syndrome with severe developmental delay, coarse facial features, hirsutism and absent fifth fingernails or toenails or fifth distal phalanges. The etiology of this syndrome remains uncertain. Here we report a stillbor...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.07.005

    authors： Coulibaly B,Sigaudy S,Girard N,Popovici C,Missirian C,Heckenroth H,Tasei AM,Fernandez C

    更新日期：2010-09-01 00:00:00

  • Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.

    abstract：:Apparently balanced chromosome abnormalities are occasionally associated with mental retardation (MR). These balanced rearrangements may disrupt genes. However, the phenotype may also be caused by small abnormalities present at the breakpoints or elsewhere in the genome. Conventional karyotyping is not instrumental fo...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.06.003

    authors： Gijsbers AC,Bosch CA,Dauwerse JG,Giromus O,Hansson K,Hilhorst-Hofstee Y,Kriek M,van Haeringen A,Bijlsma EK,Bakker E,Breuning MH,Ruivenkamp CA

    更新日期：2010-09-01 00:00:00

  • Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients.

    abstract：BACKGROUND:The 17p13.3 deletion syndrome (or Miller-Dieker syndrome, MDS, MIM 247200) is characterized by lissencephaly, mental retardation and facial dysmorphism. The phenotype is attributed to haploinsufficiency of two genes present in the minimal critical region of MDS: PAFAH1B1 (formerly referred to as LIS1) and YW...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.06.009

    authors： Schiff M,Delahaye A,Andrieux J,Sanlaville D,Vincent-Delorme C,Aboura A,Benzacken B,Bouquillon S,Elmaleh-Berges M,Labalme A,Passemard S,Perrin L,Manouvrier-Hanu S,Edery P,Verloes A,Drunat S

    更新日期：2010-09-01 00:00:00

  • Familial occurrence of ptosis, nasal speech, prominent ears, hand anomalies and learning problems.

    abstract：:We describe a four-generation family in whom 5 members show the combination of a large head, ptosis, nasal speech that sometimes goes along with a cleft palate, full cheeks, small mouth, and prominent ears, and who also have learning problems. We evaluated three affected members in detail and found them to have in add...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.03.009

    authors： Belligni EF,Hennekam RC

    更新日期：2010-07-01 00:00:00

  • Synophrys.

    abstract：INTRODUCTION:Meeting of the medial eyebrows in the midline (synophrys) may serve as a cutaneous marker lesion for syndromal disorders (e.g. Cornelia de Lange syndrome). CASE PRESENTATION:A 31-year-old man showed supercilia forming a single band of terminal hairs between left and right lateral orbital rim. Medical exam...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.02.001

    authors： Möhrenschlager M,Lauenstein M,Ring J,Steiner C

    更新日期：2010-07-01 00:00:00

  • Sperm FISH analysis in two healthy infertile brothers with t(15;18) unbalanced translocation: Implications for genetic counselling and reproductive management.

    abstract：:Numerous studies have shown that balanced reciprocal or Robertsonian translocations and inversions are associated with reduced or absent sperm production. In contrast, a similar association has been rarely reported for unbalanced translocations. An unbalanced translocation, 45,XY,-15,der(18)t(15;18)(q11.2;q23), was fo...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.03.003

    authors： Leclercq S,Auger J,Dupont C,Le Tessier D,Lebbar A,Baverel F,Dupont JM,Eustache F

    更新日期：2010-05-01 00:00:00

  • Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay.

    abstract：:Wolf-Hirschhorn Syndrome (WHS) is caused by deletions on chromosome 4p and is clinically well defined. Genotype-phenotype correlations of patients with WHS point to a critical locus to be responsible for the main characteristics of this disorder. Submicroscopic duplications of this region, however, are not known. Here...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.02.004

    authors： Hannes F,Drozniewska M,Vermeesch JR,Haus O

    更新日期：2010-05-01 00:00:00

  • Monozygotic twins discordant for vascular malformations and dysregulated growth.

    abstract：:There is a large group of disorders characterized by non-cranial vascular malformations and a dysregulated growth, of which the prototype may be Klippel-Trenaunay syndrome (KTS). The aetiology of KTS and vascular malformations-dysregulated growth (VM-DG) syndromes resembling KTS is obscure, but polygenic paradominant ...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2009.08.004

    authors： Oduber CE,Bliek J,van der Horst CM,van Steensel MA,Hennekam RC

    更新日期：2010-01-01 00:00:00

  • A new mutation in COG7 extends the spectrum of COG subunit deficiencies.

    abstract：:We describe a patient homozygous for a novel mutation in COG7, coding for one of the subunits of the Conserved Oligomeric Golgi complex, involved in retrograde vesicular trafficking. His brother showed a similar clinical syndrome and glycosylation defect but no DNA could be obtained from this patient. This mutation, c...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2009.06.006

    authors： Zeevaert R,Foulquier F,Cheillan D,Cloix I,Guffon N,Sturiale L,Garozzo D,Matthijs G,Jaeken J

    更新日期：2009-09-01 00:00:00

  • First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome.

    abstract：:Mutations within the faciogenital dysplasia 1 (FGD1) gene in individuals with clinical features of Aarskog-Scott syndrome (AAS) include missense mutations and insertions and deletions that result in frameshifts and premature terminations. Whole gene deletion and duplication represent other mutational possibilities not...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2008.12.001

    authors： Bedoyan JK,Friez MJ,DuPont B,Ahmad A

    更新日期：2009-07-01 00:00:00

  • Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome.

    abstract：:We report on a patient with a microdeletion of chromosome region 9q22.32q31.1 including the PTCH1 gene (human homologue of the Drosophila patched 1 gene), review the findings in the reported patients with similar array CGH findings, and highlight the non nevoid basal cell carcinoma/non-Gorlin syndrome findings at an e...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2009.02.002

    authors： de Ravel TJ,Ameye L,Ballon K,Borghgraef M,Vermeesch JR,Devriendt K

    更新日期：2009-03-01 00:00:00

  • A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis.

    abstract：:We report a child with a 785kb deletion of the 3p14.1p13 region including the genes FOXP1, EIF4E3, PROK2, GPR27 resulting in speech delay, contractures, hypertonia and blepharophimosis. FOXP1 and FOXP2 are transcription factors containing a polyglutamine tract and a forkhead DNA binding domain. They both play a role i...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2009.03.012

    authors： Pariani MJ,Spencer A,Graham JM Jr,Rimoin DL

    更新日期：2009-03-01 00:00:00

  • A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature.

    abstract：:We report on a male patient with intra-uterine growth retardation, microcephaly, coloboma, laryngomalacia and developmental delay. Array CGH analysis revealed a 649 kb duplication on chromosome 1p34.1. Only five patients with overlapping duplications have been reported thus far. Ten known genes are located in the dupl...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2009.01.005

    authors： Hanemaaijer N,Dijkhuizen T,Haadsma M,Boeve M,Boon M,Hordijk R,Kok K,Sikkema-Raddatz B,van Ravenswaaij-Arts CM

    更新日期：2009-03-01 00:00:00

  • Unusual 8p inverted duplication deletion with telomere capture from 8q.

    abstract：:Inverted 8p duplication deletions are recurrent chromosomal rearrangements that are mediated through non-allelic homologous recombination (NAHR) between olfactory receptor (OR) gene clusters at 8p23.1. These rearrangements result in a proximal inverted duplication of various extent, a single copy region between the OR...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2008.10.007

    authors： Buysse K,Antonacci F,Callewaert B,Loeys B,Fränkel U,Siu V,Mortier G,Speleman F,Menten B

    更新日期：2009-01-01 00:00:00

  • A patient with two mitochondrial DNA mutations causing PEO and LHON.

    abstract：:We report a 22-year-old man with PEO and optic atrophy. PEO developed before the onset of optic atrophy. The patient showed mitochondrial myopathy with cytochrome c oxidase deficient fibers. In skeletal muscle the patient was homoplasmic for the mtDNA G11778A Leber hereditary optic neuropathy (LHON) mutation and heter...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2008.10.004

    authors： Melberg A,Moslemi AR,Palm O,Raininko R,Stålberg E,Oldfors A

    更新日期：2009-01-01 00:00:00

  • The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders.

    abstract：:The genetic control of dental development represents a complex series of events, which can very schematically be divided in two pathways: specification of type, size and position of each dental organ, and specific processes for the formation of enamel and dentin. Several genes linked with early tooth positioning and d...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2008.02.009

    authors： Bailleul-Forestier I,Molla M,Verloes A,Berdal A

    更新日期：2008-07-01 00:00:00

  • Similar prevalence of founder BRCA1 and BRCA2 mutations among Ashkenazi and non-Ashkenazi men with breast cancer: evidence from 261 cases in Israel, 1976-1999.

    abstract：:To evaluate the potential contribution of mutations in the BRCA1 and BRCA2 genes to male breast cancer (MBC), we expanded a previous study to screen a total of 261 Israeli men diagnosed with breast carcinoma. A total of 21 BRCA2 6174delT and 8 BRCA1 185delAG mutations were found. Similar frequencies of BRCA1 and BRCA2...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2007.11.001

    authors： Chodick G,Struewing JP,Ron E,Rutter JL,Iscovich J

    更新日期：2008-03-01 00:00:00

  • A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformation.

    abstract：:We report on a young boy carrying a de novo 580 kb deletion in the 17q21.32 chromosomal band detected by array-CGH. He had multiple malformations including cardiac abnormalities, cleft palate, mental retardation, microcephaly, pronounced metopic suture and other minor facial dysmorphic features. This is the first case...

    journal_title：European journal of medical genetics

    pub_type： 信件

    doi：10.1016/j.ejmg.2007.09.003

    authors： Rooryck C,Burgelin I,Stef M,Taine L,Thambo JB,Lacombe D,Arveiler B

    更新日期：2008-01-01 00:00:00

  • Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes.

    abstract：:Xp22.3 deletion in males can be associated with short stature (SHOX), chondrodysplasia punctata (ARSE), mental retardation (MRX49 locus), ichthyosis (STS), Kallmann syndrome (KAL1) and ocular albinism (OA1), according to the size of the deletion. Studies of terminal and interstitial deletions in male patients with a p...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2007.11.002

    authors： Mochel F,Missirian C,Reynaud R,Moncla A

    更新日期：2008-01-01 00:00:00

  • Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2-->qter.

    abstract：:We report on an 8(1)/(2)-year-old girl with severe pre- and postnatal growth retardation, congenital heart malformation, facial asymmetry, oculocutaneous albinism without misrouting and subluxation of the radial heads. Her intelligence was in the low normal range. By GTG-banding a deletion of band 15q26 was found. Arr...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2007.08.003

    authors： Poot M,Eleveld MJ,van 't Slot R,van Genderen MM,Verrijn Stuart AA,Hochstenbach R,Beemer FA

    更新日期：2007-11-01 00:00:00

  • Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12.

    abstract：:We report on a patient with mental retardation, seizures and tall stature with advanced bone age in whom a de novo apparently balanced chromosomal rearrangement 46,XX,t(X;9)(q12;p13.3) was identified. Using array CGH on flow-sorted derivative chromosomes (array painting) and subsequent FISH and qPCR analysis, we mappe...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2007.07.003

    authors： Menten B,Buysse K,Vermeulen S,Meersschaut V,Vandesompele J,Ng BL,Carter NP,Mortier GR,Speleman F

    更新日期：2007-11-01 00:00:00

  • Ring chromosome 20 syndrome without deletions of the subtelomeric and CHRNA4--KCNQ2 genes loci.

    abstract：:Ring chromosome 20 (r(20)) syndrome is a rare disease characterized by refractory epilepsy, moderate mental retardation and particular electroencephalographic disorder with non-convulsive status epilepticus. Here, we report a new case of r(20) syndrome in a 12 year old female who presented minimal dysmorphism, general...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2007.07.002

    authors： Elghezal H,Hannachi H,Mougou S,Kammoun H,Triki C,Saad A

    更新日期：2007-11-01 00:00:00

  • Periapical cemental dysplasia is common in women with NF1.

    abstract：BACKGROUND:Neurofibromatosis type 1 (NF1) is a genetic disorder with skeletal involvement. Periapical cemental dysplasia is a rare finding in the normal population. METHOD:A total of 55 patients with NF1, 29 female and 26 male patients, were evaluated with orthopantomograms, supplemented with periapical radiographs if...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2007.04.001

    authors： Visnapuu V,Peltonen S,Ellilä T,Kerosuo E,Väänänen K,Happonen RP,Peltonen J

    更新日期：2007-07-01 00:00:00

  • Severe skeletal dysplasia caused by undiagnosed hypothyroidism.

    abstract：:Due to increased awareness of early clinical signs and introduction of neonatal screening for congenital hypothyroidism, long-term untreated hypothyroidism has become rare. Nevertheless, neonatal screening for congenital hypothyroidism is not performed in all countries, and not every affected patient might be picked u...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2007.02.002

    authors： Hüffmeier U,Tietze HU,Rauch A

    更新日期：2007-05-01 00:00:00

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