听力与言语-语言病理学

行为科学

医学伦理学

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  • Genetic counseling for women with 45,X/46,XX mosaicism: Towards more personalized management.

    abstract::Despite numerous clinical series, consistent karyotype-phenotype correlations for Turner syndrome have not been established, although a lower level of 45,X is generally thought to be associated with a milder phenotype. This limits personalized counseling for women with 45,X/46,XX mosaicism. To better understand the ph...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2021.104140

    authors: Snyder EA,San Roman AK,Piña-Aguilar RE,Steeves MA,McNamara EA,Souter I,Hayes FJ,Levitsky LL,Lin AE

    更新日期:2021-01-29 00:00:00

  • Homozygous n.64C>T mutation in mitochondrial RNA-processing endoribonuclease gene causes cartilage hair hypoplasia syndrome in two siblings.

    abstract::Cartilage hair hypoplasia syndrome (OMIM # 250250) is a rare autosomal recessive metaphyseal dysplasia, characterized by disproportionate short stature, hair hypoplasia and variable extra-skeletal manifestations, including immunodeficiency, anemia, intestinal diseases and predisposition to cancers. Cartilage hair hypo...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2021.104136

    authors: Lugli L,Ciancia S,Bertucci E,Lucaccioni L,Calabrese O,Madeo S,Berardi A,Iughetti L

    更新日期:2021-01-12 00:00:00

  • Digestive involvement in a severe form of Snyder-Robinson syndrome: Possible expansion of the phenotype.

    abstract::Snyder-Robinson syndrome (OMIM #309583) is a rare X-linked condition, caused by mutation in the SMS gene (MIM *300105), characterized by a wide spectrum of clinical signs including developmental delay, epilepsy, asthenic habitus, dysmorphism, osteopenia, and renal or genital anomalies. Here we describe two maternal ha...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2020.104097

    authors: Dontaine P,Kottos E,Dassonville M,Balasel O,Catros V,Soblet J,Perlot P,Vilain C

    更新日期:2021-01-01 00:00:00

  • CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype.

    abstract::Genetic conditions comprise a wide spectrum of different phenotypes, rapidly expanding due to new diagnostic methodologies. Patients' facial features and clinical history represent the key elements leading clinicians to the right diagnosis. CDKL5-early onset epilepsy and Pitt-Hopkins syndrome are two well-known geneti...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2020.104102

    authors: Currò A,Doddato G,Bruttini M,Zollino M,Marangi G,Zappella M,Renieri A,Pinto AM

    更新日期:2021-01-01 00:00:00

  • Dilated cardiomyopathy in a patient with autosomal dominant EEF1A2-related neurodevelopmental disorder.

    abstract::The EEF1A2 gene encodes eukaryotic translation elongation factor 1α2, an integral component of the elongation factor complex. Heterozygous pathogenic variants in EEF1A2 are associated with neurodevelopmental disorders characterized by epilepsy, global developmental delay, and autism. To date, dilated cardiomyopathy ha...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2020.104121

    authors: Kaneko M,Rosser T,Raca G

    更新日期:2021-01-01 00:00:00

  • Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly.

    abstract::Interstitial 19q13.11 deletions are associated with ectrodactyly, which has recently been linked to loss-of-function of the UBA2 gene. We report a boy with a de novo frameshift mutation in UBA2 (c.612delA (p.(Glu205Lysfs*63)), presenting with ectrodactyly of the feet associated with learning difficulties and minor phy...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2020.104009

    authors: Aerden M,Bauters M,Van Den Bogaert K,Vermeesch JR,Holvoet M,Plasschaert F,Devriendt K

    更新日期:2020-11-01 00:00:00

  • Enteric anendocrinosis attributable to a novel Neurogenin-3 variant.

    abstract::Congenital diarrhea and enteropathies (CODEs) are a group of monogenic disorders that often present with severe diarrhea in the first weeks of life. Enteric anendocrinosis (EA), an extremely rare cause of CODE, is characterized by a marked reduction of intestinal enteroendocrine cells (EC). EA is associated with reces...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2020.103981

    authors: Azab B,Dardas Z,Rabab'h O,Srour L,Telfah H,Hatmal MM,Mustafa L,Rashdan L,Altamimi E

    更新日期:2020-09-01 00:00:00

  • A retrospective analysis the clinic data and follow-up of non-invasive prenatal test in detection of fetal chromosomal aneuploidy in more than 40,000 cases in a single prenatal diagnosis center.

    abstract:OBJECTIVE:To evaluate the efficacy of non-invasive prenatal test (NIPT) in the detection of chromosomal aneuploidy according to the follow-up information from a single prenatal diagnosis center. METHODS:A total of 40,311 cases were retrospectively reviewed. The screening was performed using a BGI protocol, pre-test an...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2020.104001

    authors: Luo Y,Hu H,Jiang L,Ma Y,Zhang R,Xu J,Pan Y,Long Y,Yao H,Liang Z

    更新日期:2020-09-01 00:00:00

  • Rare homozygous nonsense variant in AIMP1 causing Early Onset Epileptic Encephalopathy with Burst Suppression (EOEE-BS).

    abstract::Pathogenic variants in AIMP1 gene are rare causes of neurologic disorders. Homozygous frameshift and nonsense variants in AIMP1 have been described in severe neurodegenerative disease. This is the third report of a homozygous nonsense variant in AIMP1 [c.115 C > T (p.Gln39*)] in a girl with severe neonatal onset epile...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2020.103970

    authors: Gupta S,Schwab M,Valdez-Gonzalez K,Segal E

    更新日期:2020-09-01 00:00:00

  • Biallelic variants in four genes underlying recessive osteogenesis imperfecta.

    abstract::Osteogenesis imperfecta (OI) is an inherited heterogeneous rare skeletal disorder characterized by increased bone fragility and low bone mass. The disorder mostly segregates in an autosomal dominant manner. However, several rare autosomal recessive and X-linked forms, caused by mutations in 18 different genes, have al...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2020.103954

    authors: Hayat A,Hussain S,Bilal M,Kausar M,Almuzzaini B,Abbas S,Tanveer A,Khan A,Siddiqi S,Foo JN,Ahmad F,Khan F,Khan B,Anees M,Mäkitie O,Alfadhel M,Ahmad W,Umair M

    更新日期:2020-08-01 00:00:00

  • Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylation.

    abstract::Congenital disorder of N-linked deglycosylation (CDDG, MIM 615273) is a very rare autosomal recessive disorder caused by pathogenic variants in the NGLY1 gene. Transient transaminitis is the typical hepatic dysfunction described in these patients, but also included neonatal jaundice, hepatomegaly, splenomegaly, and st...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2020.103952

    authors: Rios-Flores IM,Bonal-Pérez MÁ,Castellanos-González A,Velez-Gómez E,Bertoli-Avella AM,Bobadilla-Morales L,Peña-Padilla C,Appendini-Andrade V,Corona-Rivera A,Romero-Valenzuela I,Corona-Rivera JR

    更新日期:2020-08-01 00:00:00

  • Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment.

    abstract::The EMC1 gene, located on 1p36.13, encodes the subunit 1 of the endoplasmic reticulum-membrane protein complex, a highly conserved and ubiquitous multiprotein transmembrane complex. Pathogenic monoallelic and biallelic variants in EMC1 in humans have been reported only in six families, causing isolated visual impairme...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2020.103897

    authors: Cabet S,Lesca G,Labalme A,Des Portes V,Guibaud L,Sanlaville D,Pons L

    更新日期:2020-06-01 00:00:00

  • Revised Danish guidelines for the cancer surveillance of patients with Cowden Syndrome.

    abstract:INTRODUCTION:Cowden syndrome is a cancer predisposition syndrome caused by pathogenic variants in PTEN. The affected patients possess an increased risk of breast, thyroid, renal, colorectal, endometrial cancers as well as malignant melanoma. Thus prophylactic surveillance and follow up is crucial for these patients. M...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章,评审

    doi:10.1016/j.ejmg.2020.103873

    authors: Smerdel MP,Skytte AB,Jelsig AM,Ebbehøj E,Stochholm K

    更新日期:2020-05-01 00:00:00

  • Phenotypic variability in two patients with tumor necrosis factor receptor associated periodic fever syndrome emphasizes a rare manifestation: Immunoglobulin A nephropathy.

    abstract::Tumor necrosis factor receptor associated periodic fever syndrome (TRAPS) is caused by heterozygote mutations in TNFRSF1A, characterized by recurrent inflammatory attacks. In this report, we described two patients with different heterozygote mutations in TNFRSF1A. Patient 1, a 15-year-old male, had suffered from recur...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2019.103780

    authors: Balci S,Kisla Ekinci RM,Melek E,Atmis B,Bisgin A,Yilmaz M

    更新日期:2020-04-01 00:00:00

  • De novo copy number variants and parental age: Is there an association?

    abstract:PURPOSE:To investigate whether increased parental age is associated with an increased risk for de novo copy number variant (CNV) formation in offspring. METHODS:CNV calls from 2323 individuals referred to Signature Genomic Laboratories for clinical microarray-based comparative genomic hybridization were investigated; ...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2019.103829

    authors: Wadhawan I,Hai Y,Foyouzi Yousefi N,Guo X,Graham JM Jr,Rosenfeld JA

    更新日期:2020-04-01 00:00:00

  • The impact of exome sequencing on the diagnostic yield of muscular dystrophies in consanguineous families.

    abstract::Muscular dystrophies (MDs) are a heterogeneous group of inherited disorders that are characterized by progressive skeletal muscle weakness and dystrophic changes on muscle biopsy. The broad genetic and clinical heterogeneity of MDs make the accurate diagnosis difficult via conventional approaches. This study investiga...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2020.103845

    authors: Dardas Z,Swedan S,Al-Sheikh Qassem A,Azab B

    更新日期:2020-04-01 00:00:00

  • A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy.

    abstract::An increasing number of developmental and epileptic encephalopathies have been correlated with variants of ion channel genes, and in particular of potassium channels genes, such as KCNA1, KCNA2, KCNB1, KCNQ2, KCTD7 and KCNT1. Here we report a child with an early severe developmental and epileptic encephalopathy, spast...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2020.103848

    authors: Vetri L,Calì F,Vinci M,Amato C,Roccella M,Granata T,Freri E,Solazzi R,Romano V,Elia M

    更新日期:2020-04-01 00:00:00

  • Split hand/foot malformation associated with 20p12.1 deletion: A case report.

    abstract::Split hand/foot malformation (SHFM) or ectrodactyly is a rare congenital disorder affecting limb development characterized by clinical and genetic heterogeneity. SHFM is usually inherited as an autosomal dominant trait with incomplete penetrance. Isolated and syndromic forms are described. The extent of associated mal...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2019.103805

    authors: Ruaud L,Flöttmann R,Spielmann M,Escande F,Van Maldergem L,Mundlos S,Piard J

    更新日期:2020-04-01 00:00:00

  • Small 7p22.3 microdeletion: Case report of Snx8 haploinsufficiency and neurological findings.

    abstract::Some cases of chromosome 7p22.3 deletions have been reported, but the genotype-phenotype correlation is still uncertain. Neurodevelopmental delay and heart anomalies have been recorded as the most recurrent defects. We describe the clinical features of a four-year-old male child with a 139 kb deletion at 7p22.3 involv...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2019.103772

    authors: Mastromoro G,Capalbo A,Guido CA,Torres B,Fabbretti M,Traversa A,Giancotti A,Ventriglia F,Bernardini L,Spalice A,Pizzuti A

    更新日期:2020-04-01 00:00:00

  • Mayer-Rokitansky-Künster-Hauser syndrome due to 2q12.1q14.1 deletion: PAX8 the causing gene?

    abstract::Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a rare malformative disorder, characterized by congenital aplasia of the uterus and the upper two thirds of the vagina (MIM #277000). For a majority of patients, the disorder remained without identified genetic cause. However, four recurrent microdeletions, i.e. 1q21.1...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2019.103812

    authors: Smol T,Ribero-Karrouz W,Edery P,Gorduza DB,Catteau-Jonard S,Manouvrier-Hanu S,Ghoumid J

    更新日期:2020-04-01 00:00:00

  • A mild phenotype of LGI4-Related arthrogryposis multiplex congenita with intrafamilial variability.

    abstract::Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of congenital disorders characterized by multiple joint contractures. We report a family with two children affected with AMC. First child had a severe AMC phenotype and died in infancy. Second child, currently 4-years-old, was ascertained at the age of ...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章,评审

    doi:10.1016/j.ejmg.2019.103756

    authors: Mishra S,Rai A,Srivastava P,Phadke SR

    更新日期:2020-03-01 00:00:00

  • Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib.

    abstract:BACKGROUND:Glycogen storage disease type Ib (GSD-Ib) is an inherited metabolic disorder caused by autosomal recessive mutations in SLC37A4 coding for the glucose-6-phosphate transporter. Neutropenia represents major feature of GSD-Ib along with metabolic disturbances. Previous research in GSD-Ib patients did not reveal...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2019.103767

    authors: Sarajlija A,Djordjevic M,Kecman B,Skakic A,Pavlovic S,Pasic S,Stojiljkovic M

    更新日期:2020-03-01 00:00:00

  • A classification system for split-hand/ foot malformation (SHFM): A proposal based on 3 pedigrees with WNT10B mutations.

    abstract::SHFM6 (OMIM 225300) is caused by WNT10B pathogenic variants (12q13.12). It is one of the rarest forms of SHFM; with only seven pathogenic variants described in the world literature. Furthermore, it has not been determined if SHFM6 has specific phenotypic characteristics. In this paper, we present a case series of thre...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2019.103738

    authors: Al Ghamdi MA,Al-Qattan MM,Hadadi A,Alabdulrahman A,Almuzzaini B,Alatwi N,AlBalwi MA

    更新日期:2020-03-01 00:00:00

  • Telomeres and genomic instability during early development.

    abstract::Genomic instability is widespread during early embryo development. Aneuploidy, mosaicism, and copy number variants (CNVs) commonly appear in human preimplantation embryos. Both age-dependent meiotic aneuploidy and age-independent mitotic aneuploidy and CNVs occur In human embryos. Telomere attrition, which contributes...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章,评审

    doi:10.1016/j.ejmg.2019.03.002

    authors: Keefe DL

    更新日期:2020-02-01 00:00:00

  • Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms.

    abstract:BACKGROUND:Pathogenic variants in the BCOR gene have been identified in males with X-linked recessive microphthalmia and in females with X-linked dominant oculofaciocardiodental (OFCD) syndrome. This latter condition has previously been regarded as rare but the increased availability of genetic testing in recent years ...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2019.04.015

    authors: Redwood A,Douzgou S,Waller S,Ramsden S,Roberts A,Bonin H,Lloyd IC,Ashworth J,Black GCM,Clayton-Smith J

    更新日期:2020-02-01 00:00:00

  • CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.

    abstract::Copy number variations (CNVs) of the CNTN6 gene - a member of the contactin gene superfamily - have been previously proposed to have an association with neurodevelopmental and autism spectrum disorders. However, no functional evidence has been provided to date and phenotypically normal and mildly affected carriers com...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2019.02.008

    authors: Repnikova EA,Lyalin DA,McDonald K,Astbury C,Hansen-Kiss E,Cooley LD,Pfau R,Herman GE,Pyatt RE,Hickey SE

    更新日期:2020-01-01 00:00:00

  • Exome sequencing reveals a novel splice site variant in HUWE1 gene in patients with suspected Say-Meyer syndrome.

    abstract::Say-Meyer syndrome is a rare and clinically heterogeneous syndrome characterized by trigonocephaly, short stature, developmental delay and hypotelorism. Nine patients with this syndrome have been reported thus far although no causative gene has yet been identified. Here, we report two siblings with clinical phenotypes...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2019.02.007

    authors: Muthusamy B,Nguyen TT,Bandari AK,Basheer S,Selvan LDN,Chandel D,Manoj J,Gayen S,Seshagiri S,Chandra Girimaji S,Pandey A

    更新日期:2020-01-01 00:00:00

  • Rare missense TUBGCP5 gene variant in a patient with primary microcephaly.

    abstract::Primary microcephalies (MCPH) are characterized by microcephaly (HC -2 SD at birth) in the absence of visceral malformations. To date, less than 20 genes have been associated with MCHP, several of which are involved in the formation and function of the centrosome. Here, we report a novel missense variant in the TUBGCP...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2018.12.003

    authors: Maver A,Čuturilo G,Kovanda A,Miletić A,Peterlin B

    更新日期:2019-12-01 00:00:00

  • FOXA2 gene mutation in a patient with congenital complex pituitary hormone deficiency.

    abstract::We report a patient with congenital complex pituitary hormone deficiency (CPHD) with intestinal malrotation and anal atresia. We identified a de novo heterozygous mutation, c.664T > G (p.Cys222Gly), in the FOXA2 gene in this individual. This missense mutation had the potential to affect the DNA binding properties of t...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2018.11.004

    authors: Boda H,Miyata M,Inagaki H,Shinkai Y,Kato T,Yoshikawa T,Kurahashi H

    更新日期:2019-11-01 00:00:00

  • A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants.

    abstract::Microphthalmia with limb anomalies (MLA, OMIM, 206920) is a rare autosomal-recessive disease caused by biallelic pathogenic variants in the SMOC1 gene. It is characterized by ocular disorders (microphtalmia or anophtalmia) and limb anomalies (oligodactyly, syndactyly, and synostosis of the 4th and 5th metacarpals), va...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2018.11.012

    authors: Mancini C,Zonta A,Botta G,Breda Klobus A,Valbonesi S,Pasini B,Giorgio E,Viora E,Brusco A,Brussino A

    更新日期:2019-11-01 00:00:00

  • Mutation spectrum of MMACHC in Chinese pediatric patients with cobalamin C disease: A case series and literature review.

    abstract::Cobalamin (cbl) C disease is a rare autosomal recessive inheritance disease, which is the most common cobalamin metabolic disorder. Its clinical phenotype involves multiple systems with varying degrees of severity, where in mild cases can be asymptomatic for many years, whereas severe cases may cause death during the ...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章,评审

    doi:10.1016/j.ejmg.2019.103713

    authors: Wang C,Li D,Cai F,Zhang X,Xu X,Liu X,Zhang C,Wang D,Liu X,Lin S,Zhang Y,Shu J

    更新日期:2019-10-01 00:00:00

  • Novel pathogenic TGFBR1 and SMAD3 variants identified after cerebrovascular events in adult patients with Loeys-dietz syndrome.

    abstract:INTRODUCTION:Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder due to heterozygous pathogenic variants in transforming growth factor beta (TGFβ) signaling-related genes. LDS types 1-6 are distinguished depending on the involved gene. LDS is characterized by multiple arterial aneurysms and d...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2019.103727

    authors: Laterza D,Ritelli M,Zini A,Colombi M,Dell'Acqua ML,Vandelli L,Bigliardi G,Verganti L,Vallone S,Vincenzi C,Rosafio F,Ciolli L,Calabrese O,Nichelli PF,Picchetto L

    更新日期:2019-10-01 00:00:00

  • Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases.

    abstract::Mutations in Kelch-like family member 7 (KLHL7) have recently been described as a cause of a constellation of clinical findings with descriptions of both a Crisponi syndrome (CS)/cold-induced sweating syndrome type 1 (CISS1)-like, as well as a Bohring-Opitz syndrome (BOS)-like presentation. Here we report two siblings...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2018.10.003

    authors: Jeffries L,Olivieri JE,Ji W,Spencer-Manzon M,Bale A,Konstantino M,Lakhani SA

    更新日期:2019-09-01 00:00:00

  • A survey of undetected, clinically relevant chromosome abnormalities when replacing postnatal karyotyping by Whole Genome Sequencing.

    abstract::Whole genome sequencing (WGS) holds the potential to identify pathogenic gene mutations, copy number variation, uniparental disomy and structural rearrangements in a single genetic test. With its high diagnostic yield and decreasing costs, the question arises whether WGS can serve as a single test for all referrals to...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2018.09.010

    authors: Hochstenbach R,van Binsbergen E,Schuring-Blom H,Buijs A,Ploos van Amstel HK

    更新日期:2019-09-01 00:00:00

  • Sex chromosomes-linked single-gene disorders involved in human infertility.

    abstract::Human infertility is a healthcare problem that has a worldwide impact. Genetic causes of human infertility include chromosomal aneuploidies and rearrangements and single-gene defects. The sex chromosomes (X and Y) are critical players in human fertility since they contain several genes essential for sex determination ...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章,评审

    doi:10.1016/j.ejmg.2018.10.012

    authors: Jedidi I,Ouchari M,Yin Q

    更新日期:2019-09-01 00:00:00

  • Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion.

    abstract::A 5,6 Mb de novo 19q12-q13.12 interstitial deletion was diagnosed prenatally by array-comparative genomic hybridization in a 26 weeks male fetus presenting with intra-uterine growth retardation, left clubfoot, atypical genitalia and dysmorphic features. Autopsic examination following termination of pregnancy identifie...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2018.09.006

    authors: Mottet N,Cabrol C,Metz JP,Toubin C,Arbez-Gindre F,Valduga M,McElreavey K,Riethmuller D,Van Maldergem L,Piard J

    更新日期:2019-09-01 00:00:00

  • Endocervical trophoblast for interrogating the fetal genome and assessing pregnancy health at five weeks.

    abstract::Prenatal testing for fetal genetic traits and risk of obstetrical complications is essential for maternal-fetal healthcare. The migration of extravillous trophoblast (EVT) cells from the placenta into the reproductive tract and accumulation in the cervix offers an exciting avenue for prenatal testing and monitoring pl...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2019.103690

    authors: Kadam L,Jain C,Kohan-Ghadr HR,Krawetz SA,Drewlo S,Armant DR

    更新日期:2019-08-01 00:00:00

  • A compound heterozygosity of Tecrl gene confirmed in a catecholaminergic polymorphic ventricular tachycardia family.

    abstract::Catecholaminergic polymorphic ventricular tachycardia (CPVT) is one of the most common causes of sudden cardiac death (SCD) during childhood and in adolescence. Trans-2, 3-enoyl-CoA reductase-like (Tecrl) gene mutations (Arg196Gln and c.331+1G > A splice site mutation) were first reported in CPVT. Tecrl homozygous c.3...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2019.01.018

    authors: Xie L,Hou C,Jiang X,Zhao J,Li Y,Xiao T

    更新日期:2019-07-01 00:00:00

  • Clinical spectrum of congenital tibial hemimelia in 35 limbs of 24 patients: A single center observational study from India.

    abstract:PURPOSE:Considering the paucity of reports on large series of patients with tibial hemimelia, we assessed the clinical spectrum of this rare congenital disorder in patients seen at a single Indian center over 10 years. METHODS:Retrospective review of medical records of patients seen at single center in 10 years. RESU...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2019.05.005

    authors: Kumar Sahoo P,Sahu MM,Prasad Das S

    更新日期:2019-07-01 00:00:00

  • Developing a short-form of the Genetic Counselling Outcome Scale: The Genomics Outcome Scale.

    abstract::The Genetic Counselling Outcome Scale (GCOS-24) is a 24-item patient reported outcome measure for use in evaluations of genetic counselling and testing services. The aim of this study was to develop a short form of GCOS-24. The study comprised three phases. Phase I: Cognitive interviews were used to explore interpreta...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2018.11.015

    authors: Grant PE,Pampaka M,Payne K,Clarke A,McAllister M

    更新日期:2019-05-01 00:00:00

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