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Short Report |
Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence?
- Dennis Döcker
- , Max Schubach
- & Saskia Biskup
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Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome
- Lisenka ELM Vissers
- , Monica Bonetti
- & Jeroen den Hertog
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Short Report
| Open AccessCommon colorectal cancer risk alleles contribute to the multiple colorectal adenoma phenotype, but do not influence colonic polyposis in FAP
- Timothy H T Cheng
- , Maggie Gorman
- & Ian Tomlinson
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Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia
- Dong Li
- , David R Weber
- & Michael A Levine
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Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome
- François Cartault
- , Patrick Munier
- & Valérie Cormier-Daire
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Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy
- Jincy Winston
- , Laura Duerden
- & Meena Upadhyaya
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Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations
- Federico di Rocco
- , Geneviève Baujat
- & Corinne Collet
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The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome
- Dorien Schepers
- , Alexander J Doyle
- & Lut Van Laer
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| Open AccessPrepubertal start of father’s smoking and increased body fat in his sons: further characterisation of paternal transgenerational responses
- Kate Northstone
- , Jean Golding
- & Marcus Pembrey
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Genetic analysis, in silico prediction, and family segregation in long QT syndrome
- Helena Riuró
- , Oscar Campuzano
- & Ramon Brugada
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Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene
- Mari-Anne Vals
- , Eve Õiglane-Shlik
- & Katrin Õunap
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A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia
- Mugdha Joshi
- , Jacqueline Eagan
- & Pankaj B Agrawal
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Attenuated familial adenomatous polyposis manifests as autosomal dominant late-onset colorectal cancer
- Abdulla Ibrahim
- , Daniel R Barnes
- & Jonathan N Berg
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Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome
- Birgitte Bertelsen
- , Linea Melchior
- & Zeynep Tümer
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A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia
- Gaël Nicolas
- , Agnès Jacquin
- & Didier Hannequin
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Biallelic MUTYH mutations can mimic Lynch syndrome
- Monika Morak
- , Barbara Heidenreich
- & Elke Holinski-Feder
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Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund–Thomson Syndrome sibs with mild phenotype
- Elisa Adele Colombo
- , Laura Fontana
- & Lidia Larizza
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Genetic ancestry is associated with colorectal adenomas and adenocarcinomas in Latino populations
- Gustavo Hernandez-Suarez
- , Maria Carolina Sanabria
- & Albert Tenesa
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Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation
- Tahir Naeem Khan
- , Joakim Klar
- & Niklas Dahl
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DNA polymorphism and epigenetic marks modulate the affinity of a scaffold/matrix attachment region to the nuclear matrix
- Natalia P Kisseljova
- , Petr Dmitriev
- & Yegor S Vassetzky
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CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree
- Claudia Soler-Alfonso
- , Claudia MB Carvalho
- & Christian P Schaaf
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Further delineation of the SATB2 phenotype
- Dennis Döcker
- , Max Schubach
- & Deborah Bartholdi
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Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes
- Tracy Tucker
- , Farah R Zahir
- & Jan M Friedman
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A novel indel in exon 9 of APC upregulates a ‘skip exon 9’ isoform and causes very severe familial adenomatous polyposis
- Peh Yean Cheah
- , Yu Hui Wong
- & Choong Leong Tang
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HRAS mutations in bladder cancer at an early age and the possible association with the Costello Syndrome
- Willemien Beukers
- , Aleksander Hercegovac
- & Ellen C Zwarthoff
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Allele-specific regulation of DISC1 expression by miR-135b-5p
- Mari Rossi
- , Helena Kilpinen
- & Iiris Hovatta
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Site-specific methylation of placental HSD11B2 gene promoter is related to intrauterine growth restriction
- Yan Zhao
- , Xia Gong
- & Yunhui Zhang
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Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes
- Martine Doco-Fenzy
- , Camille Leroy
- & David Geneviève
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Meiotic outcomes of three-way translocations ascertained in cleavage-stage embryos: refinement of reproductive risks and implications for PGD
- Paul N Scriven
- , Susan M Bint
- & Caroline Mackie Ogilvie
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Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe
- Luitgard M Graul-Neumann
- , Alexandra Deichsel
- & Petra Seemann
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Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome
- Gabrielle R Wilson
- , Jasmine Sunley
- & Paul J Lockhart
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| Open AccessThe CF-modifying gene EHF promotes p.Phe508del-CFTR residual function by altering protein glycosylation and trafficking in epithelial cells
- Frauke Stanke
- , Andrea van Barneveld
- & Burkhard Tümmler
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A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations
- Cíntia Barros Santos-Rebouças
- , Stefanie Belet
- & Guy Froyen
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B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations
- Carola Hedberg
- , Anders Oldfors
- & Niklas Darin
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Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissues
- Saeed Bohlega
- , Huda Al-Ajlan
- & Amr Al-Saif
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Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation
- Yonatan Perez
- , Libe Gradstein
- & Ohad S Birk
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Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation
- Alex R Paciorkowski
- , Judy Weisenberg
- & Bryce M Paschal
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A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain
- Jules G Leroy
- , David Sillence
- & Sara S Cathey
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Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy
- Hugo R Martinez
- , William J Craigen
- & John L Jefferies
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Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon
- Saiqa Yasmeen
- , Katrine Lund
- & Lisbeth B Møller
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Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation
- Shery Thomas
- , Mervyn G Thomas
- & Irene Gottlob
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Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB
- Chun T Kwok
- , Alex Morris
- & Jacqueline S de Belleroche
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| Open AccessGenetic analysis of the role of Alx4 in the coordination of lower body and external genitalia formation
- Daisuke Matsumaru
- , Ryuma Haraguchi
- & Gen Yamada
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Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort
- Cécile Rouzier
- , Annabelle Chaussenot
- & Véronique Paquis-Flucklinger
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A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred
- Adi Mory
- , Francesc X Ruiz
- & Ruth Gershoni-Baruch
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An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3
- Céline Pebrel-Richard
- , Anne Debost-Legrand
- & Christine Francannet
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THEMIS and PTPRK in celiac intestinal mucosa: coexpression in disease and after in vitro gliadin challenge
- Constanza Bondar
- , Leticia Plaza-Izurieta
- & Jose Ramon Bilbao
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Severe forms of Baraitser–Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations
- N Di Donato
- , A Rump
- & A Verloes