CMT4D (NDRG1 mutation): genotype-phenotype correlations.
Journal of the peripheral nervous system : JPNS | 2013-09-01 | PMID 24028195
Ricard Emilie, Mathis Stéphane, Magdelaine Corinne and 4 more
Publication catalog
Biomedical publications with connected research
Browse 1,060,000 source-attributed publications. Article pages show available bibliographic context, indexed concepts and SPECTER2 related publications where supported by the source and graph. Missing metadata is not invented, and source retraction notices remain visible.
Semantic proximity supports literature exploration. It does not establish scientific or clinical evidence.
Publications
Page 5713 of 10600
Phylogenetic resolution power of microsatellites and various single-nucleotide polymorphism types assessed in 10 divergent chicken populations.
Animal genetics | 2014-02-01 | PMID 24028291
Granevitze Z, David L, Twito T and 3 more
Identifying the superior measure of rapid fibrosis for predicting premature cirrhosis after liver transplantation for hepatitis C.
Transplant infectious disease : an official journal of the Transplantation Society | 2013-12-01 | PMID 24028328
Howell J, Sawhney R, Angus P and 6 more
MHC class I expression dependent on bacterial infection and parental factors in whitefish embryos (Salmonidae).
Molecular ecology | 2013-10-01 | PMID 24028333
Clark Emily S, Wilkins Laetitia G E, Wedekind Claus
Full-length dysferlin expression driven by engineered human dystrophic blood derived CD133+ stem cells.
The FEBS journal | 2013-12-01 | PMID 24028392
Meregalli Mirella, Navarro Claire, Sitzia Clementina and 11 more
Association between aldehyde dehydrogenase 2 polymorphisms and the incidence of diabetic retinopathy among Japanese subjects with type 2 diabetes mellitus.
Cardiovascular diabetology | 2013-09-13 | PMID 24028448
Morita Kazunori, Saruwatari Junji, Miyagawa Haruna and 7 more
Genes: ALDH2
Re-sequencing of the APOAI promoter region and the genetic association of the -75G > A polymorphism with increased cholesterol and low density lipoprotein levels among a sample of the Kuwaiti population.
BMC medical genetics | 2013-09-12 | PMID 24028463
Al-Bustan Suzanne A, Al-Serri Ahmad E, Annice Babitha G and 2 more
A multivariate view of the evolution of sexual dimorphism.
Journal of evolutionary biology | 2013-10-01 | PMID 24028470
Wyman M J, Stinchcombe J R, Rowe L
Aspirin-induced apoptosis of yeast cells is associated with mitochondrial superoxide radical accumulation and NAD(P)H oxidation.
FEMS yeast research | 2013-12-01 | PMID 24028488
Farrugia Gianluca, Bannister William H, Vassallo Neville and 1 more
Endoplasmic reticulum aminopeptidase-1 alleles associated with increased risk of ankylosing spondylitis reduce HLA-B27 mediated presentation of multiple antigens.
Autoimmunity | 2013-12-01 | PMID 24028501
Seregin Sergey S, Rastall David P W, Evnouchidou Irini and 8 more
Genes: ERAP1
Splice site SNPs of phospholipase PLCXD3 are significantly associated with variant and sporadic Creutzfeldt-Jakob disease.
BMC medical genetics | 2013-09-12 | PMID 24028506
Bishop Matthew T, Sanchez-Juan Pascual, Knight Richard S G
Genes: PLCXD3
A robust genetic system for producing heterodimeric native and mutant cytochrome bc(1).
Biochemistry | 2013-10-15 | PMID 24028512
Khalfaoui-Hassani Bahia, Lanciano Pascal, Daldal Fevzi
Relationships between flavin-containing mono-oxygenase 3 (FMO3) genotype and trimethylaminuria phenotype in a Japanese population.
British journal of clinical pharmacology | 2014-05-01 | PMID 24028545
Shimizu Makiko, Allerston Charles K, Shephard Elizabeth A and 2 more
Genes: FMO3
Effect of 8-oxoguanine on DNA structure and deformability.
The journal of physical chemistry. B | 2013-10-03 | PMID 24028561
Dršata Tomáš, Kara Mahmut, Zacharias Martin and 1 more
Late failure of a split-thickness skin graft in the setting of homozygous factor V Leiden mutation: a case report and correlative animal model from the Wound Etiology and Healing (WE-HEAL) study.
International wound journal | 2015-10-01 | PMID 24028566
Shanmugam Victoria K, McNish Sean, Duncan Joanna and 5 more
Structural insights into the hydrolysis and polymorphism of methotrexate polyglutamate by zebrafish γ-glutamyl hydrolase.
Journal of medicinal chemistry | 2013-10-10 | PMID 24028568
Chuankhayan Phimonphan, Kao Tseng-Ting, Lin Chien-Chih and 4 more
TLR2, TLR3, TLR4 and CD14 gene polymorphisms associated with oral lichen planus risk.
European journal of oral sciences | 2013-10-01 | PMID 24028589
Stanimirovic Dragan, Zeljic Katarina, Jankovic Ljiljana and 3 more
Genes: TLR3, TLR2, TLR4
Strong population genetic structuring in an annual fish, Nothobranchius furzeri, suggests multiple savannah refugia in southern Mozambique.
BMC evolutionary biology | 2013-09-12 | PMID 24028633
Bartáková Veronika, Reichard Martin, Janko Karel and 5 more
Reactive oxygen species production induced by ethanol in Saccharomyces cerevisiae increases because of a dysfunctional mitochondrial iron-sulfur cluster assembly system.
FEMS yeast research | 2013-12-01 | PMID 24028658
Pérez-Gallardo Rocio V, Briones Luis S, Díaz-Pérez Alma L and 3 more
Genomic prediction of trait segregation in a progeny population: a case study of Japanese pear (Pyrus pyrifolia).
BMC genetics | 2013-09-12 | PMID 24028660
Iwata Hiroyoshi, Hayashi Takeshi, Terakami Shingo and 3 more
On the design of clone-based haplotyping.
Genome biology | 2013-01-01 | PMID 24028704
Lo Christine, Liu Rui, Lee Jehyuk and 7 more
Deficiency of antithrombin and protein C gene in 202 Chinese venous thromboembolism patients.
International journal of laboratory hematology | 2014-04-01 | PMID 24028705
Gu Y, Shen W, Zhang L and 2 more
Vector control measures failed to affect genetic structure of Aedes aegypti in a sentinel metropolitan area of Brazil.
Acta tropica | 2013-12-01 | PMID 24028791
Souza Kathleen R, Ribeiro Gilmar, Silva dos Santos Carlos Gustavo and 5 more
Genes: FST
Cuticular drusen: stars in the sky.
Progress in retinal and eye research | 2013-11-01 | PMID 24028794
Boon Camiel J F, van de Ven Johannes P H, Hoyng Carel B and 2 more
Human mitochondrial NDUFS3 protein bearing Leigh syndrome mutation is more prone to aggregation than its wild-type.
Biochimie | 2013-12-01 | PMID 24028823
Jaokar Tulika M, Patil Deepak P, Shouche Yogesh S and 2 more
Genes: NDUFS3
Contribution of the ear and the flag leaf to grain filling in durum wheat inferred from the carbon isotope signature: genotypic and growing conditions effects.
Journal of integrative plant biology | 2014-05-01 | PMID 24028829
Sanchez-Bragado Rut, Elazab Abdelhalim, Zhou Bangwei and 4 more
Carboxypeptidase N-deficient mice present with polymorphic disease phenotypes on induction of experimental autoimmune encephalomyelitis.
Immunobiology | 2014-02-01 | PMID 24028840
Hu Xianzhen, Wetsel Rick A, Ramos Theresa N and 3 more
Vacuolar transport of abscisic acid glucosyl ester is mediated by ATP-binding cassette and proton-antiport mechanisms in Arabidopsis.
Plant physiology | 2013-11-01 | PMID 24028845
Burla Bo, Pfrunder Stefanie, Nagy Réka and 3 more
Overexpression of the vacuolar sugar carrier AtSWEET16 modifies germination, growth, and stress tolerance in Arabidopsis.
Plant physiology | 2013-11-01 | PMID 24028846
Klemens Patrick A W, Patzke Kathrin, Deitmer Joachim and 7 more
Impact of the cellular prion protein on amyloid-β and 3PO-tau processing.
Journal of Alzheimer's disease : JAD | 2014-01-01 | PMID 24028865
Schmitz Matthias, Wulf Katharina, Signore Sandra C and 6 more
Genes: PRNP
Endogenous tau aggregates in oligodendrocytes of rTg4510 mice induced by human P301L tau.
Journal of Alzheimer's disease : JAD | 2014-01-01 | PMID 24028867
Ren Yan, Lin Wen-Lang, Sanchez Laura and 6 more
Combination of siRNA-directed Kras oncogene silencing and arsenic-induced apoptosis using a nanomedicine strategy for the effective treatment of pancreatic cancer.
Nanomedicine : nanotechnology, biology, and medicine | 2014-02-01 | PMID 24028894
Zeng Linjuan, Li Jingguo, Wang Yong and 8 more
QTLs influencing IGF-1 levels in a LOU/CxFischer 344F2 rat population. Tracks towards the metabolic theory of Ageing.
Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society | 2013-12-01 | PMID 24028904
Marissal-Arvy Nathalie, Duron Emmanuelle, Parmentier Frédéric and 3 more
A critical functional missense mutation (H173R) in the bovine PROP1 gene significantly affects growth traits in cattle.
Gene | 2013-12-01 | PMID 24029076
Pan Chuanying, Wu Chongyang, Jia Wenchao and 5 more
Genes: PROP1, PRL
Induction of homologous recombination following in utero exposure to DNA-damaging agents.
DNA repair | 2013-11-01 | PMID 24029142
Karia Bijal, Martinez Jo Ann, Bishop Alexander J R
Rapid detection of drug resistance and mutational patterns of extensively drug-resistant strains by a novel GenoType® MTBDRsl assay.
Journal of postgraduate medicine | 2000-01-01 | PMID 24029194
Singh A K, Maurya A K, Kant S and 4 more
Mechanisms of targeted therapy resistance take a de-TOR.
Cancer cell | 2013-09-09 | PMID 24029226
Gentry Leanna R, Martin Timothy D, Der Channing J
Xbp1s-negative tumor B cells and pre-plasmablasts mediate therapeutic proteasome inhibitor resistance in multiple myeloma.
Cancer cell | 2013-09-09 | PMID 24029229
Leung-Hagesteijn Chungyee, Erdmann Natalie, Cheung Grace and 5 more
The RasGAP gene, RASAL2, is a tumor and metastasis suppressor.
Cancer cell | 2013-09-09 | PMID 24029233
McLaughlin Sara Koenig, Olsen Sarah Naomi, Dake Benjamin and 8 more
Genes: RASAL2
Transformation-associated changes in sphingolipid metabolism sensitize cells to lysosomal cell death induced by inhibitors of acid sphingomyelinase.
Cancer cell | 2013-09-09 | PMID 24029234
Petersen Nikolaj H T, Olsen Ole D, Groth-Pedersen Line and 15 more
Completely humanizing prolactin rescues infertility in prolactin knockout mice and leads to human prolactin expression in extrapituitary mouse tissues.
Endocrinology | 2013-12-01 | PMID 24029242
Christensen Heather R, Murawsky Michael K, Horseman Nelson D and 2 more
Genes: PRL
Common variants in Mendelian kidney disease genes and their association with renal function.
Journal of the American Society of Nephrology : JASN | 2013-12-01 | PMID 24029420
Parsa Afshin, Fuchsberger Christian, Köttgen Anna and 156 more
Genes: LRP2, PALB2, ROBO2, TSC1
Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome.
Journal of the American Society of Nephrology : JASN | 2014-01-01 | PMID 24029428
Bu Fengxiao, Maga Tara, Meyer Nicole C and 4 more
Genes: PLG
The association of HLA-DRB1 alleles and drug use with HIV infection in a Chinese Han Cohort.
The Brazilian journal of infectious diseases : an official publication of the Brazilian Society of Infectious Diseases | 2000-01-01 | PMID 24029438
Diao Bo, Du Juan, Liu Ying and 2 more
Warfarin pharmacogenetics: a controlled dose-response study in healthy subjects.
Vascular medicine (London, England) | 2013-10-01 | PMID 24029542
Kadian-Dodov Daniella L, van der Zee Sarina A, Scott Stuart A and 7 more
Genes: VKORC1
Distinct phenotypes in zebrafish models of human startle disease.
Neurobiology of disease | 2013-12-01 | PMID 24029548
Ganser Lisa R, Yan Qing, James Victoria M and 4 more
Genes: GLRB, GLRA1
Association between documented family history of cancer and screening for breast and colorectal cancer.
Preventive medicine | 2013-11-01 | PMID 24029558
Carney Patricia A, O'Malley Jean P, Gough Andrea and 7 more
Radiogenomics of clear cell renal cell carcinoma: associations between CT imaging features and mutations.
Radiology | 2014-02-01 | PMID 24029645
Karlo Christoph A, Di Paolo Pier Luigi, Chaim Joshua and 7 more
Genes: BAP1, VHL, PBRM1, SETD2
Human leukocyte antigen B distribution in HIV discordant cohort from India.
Immunology letters | 2000-01-01 | PMID 24029662
Chaudhari Deepali V, Chavan Vijay R, Ahir Swati P and 3 more
Significant association of TNFα and IL-6 gene with male infertility--an explorative study in Indian populations of Uttar Pradesh.
Immunology letters | 2000-01-01 | PMID 24029665
Shukla Kamla Kant, Agnihotri Shalini, Gupta Abhishek and 4 more
Genes: TNF
Molecular epidemiology of norovirus infections in symptomatic and asymptomatic children from Bobo Dioulasso, Burkina Faso.
Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology | 2013-11-01 | PMID 24029685
Huynen Pascale, Mauroy Axel, Martin Caroline and 5 more
Temporal changes in K-ras mutant fraction in lung tissue of big blue B6C3F₁ mice exposed to ethylene oxide.
Toxicological sciences : an official journal of the Society of Toxicology | 2013-11-01 | PMID 24029818
Parsons Barbara L, Manjanatha Mugimane G, Myers Meagan B and 7 more
Heritability analyses show visit-to-visit blood pressure variability reflects different pathological phenotypes in younger and older adults: evidence from UK twins.
Journal of hypertension | 2013-12-01 | PMID 24029873
Menni Cristina, Mangino Massimo, Zhang Feng and 4 more
Genes: DBP
Neural repair with pluripotent stem cells.
Methods in molecular biology (Clifton, N.J.) | 2013-01-01 | PMID 24029933
Döbrössy Máté, Pruszak Jan
Assessing macrophage phenotype during tissue repair.
Methods in molecular biology (Clifton, N.J.) | 2013-01-01 | PMID 24029956
Koh Timothy J, Novak Margaret L, Mirza Rita E
A novel variant mutation of transthyretin Ile73Val-related amyloidotic polyneuropathy in Taiwanese.
Acta neurologica Taiwanica | 2013-06-01 | PMID 24030042
Liao Ming-Feng, Chang Hong-Shiu
Genes: TTR, FAP
Alternative splicing and differential expression of the islet autoantigen IGRP between pancreas and thymus contributes to immunogenicity of pancreatic islets but not diabetogenicity in humans.
Diabetologia | 2013-12-01 | PMID 24030068
de Jong V Martijn, Abreu Joana R F, Verrijn Stuart Annemarie A and 7 more
Longitudinal changes in insulin sensitivity and beta cell function between women with and without a history of gestational diabetes mellitus.
Diabetologia | 2013-12-01 | PMID 24030069
Xiang Anny H, Takayanagi Miwa, Black Mary Helen and 4 more
An experimental test on the probability of extinction of new genetic variants.
Nature communications | 2013-01-01 | PMID 24030070
Chelo Ivo M, Nédli Judit, Gordo Isabel and 1 more
Unraveling sterol-dependent membrane phenotypes by analysis of protein abundance-ratio distributions in different membrane fractions under biochemical and endogenous sterol depletion.
Molecular & cellular proteomics : MCP | 2013-12-01 | PMID 24030099
Zauber Henrik, Szymanski Witold, Schulze Waltraud X
Loss of Pde6 reduces cell body Ca(2+) transients within photoreceptors.
Cell death & disease | 2013-09-12 | PMID 24030149
Ma E Y, Lewis A, Barabas P and 4 more
Epigenetic landscape of Parkinson's disease: emerging role in disease mechanisms and therapeutic modalities.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics | 2013-10-01 | PMID 24030213
Ammal Kaidery Navneet, Tarannum Shaista, Thomas Bobby
Decline in muscle strength and running endurance in klotho deficient C57BL/6 mice.
Biogerontology | 2013-12-01 | PMID 24030242
Phelps Michael, Pettan-Brewer Christina, Ladiges Warren and 1 more
A brilliant breakthrough in OI type V.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA | 2014-02-01 | PMID 24030286
Lazarus S, Moffatt P, Duncan E L and 1 more
Transient downregulation of Dab1 protein levels during development leads to behavioral and structural deficits: relevance for psychiatric disorders.
Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology | 2014-02-01 | PMID 24030361
Teixeira Catia M, Masachs Nuria, Muhaisen Ashraf and 4 more
Glaucoma: present challenges and future trends.
Ophthalmic research | 2013-01-01 | PMID 24030362
Bettin Paolo, Di Matteo Federico
Clinical and biological implications of driver mutations in myelodysplastic syndromes.
Blood | 2013-11-21 | PMID 24030381
Papaemmanuil Elli, Gerstung Moritz, Malcovati Luca and 35 more
Mutation spectrum and differential gene expression in cystic and solid vestibular schwannoma.
Genetics in medicine : official journal of the American College of Medical Genetics | 2014-03-01 | PMID 24030433
Zhang Zhihua, Wang Zhaoyan, Sun Lianhua and 4 more
Genes: CNTF
Regulation of temperature-responsive flowering by MADS-box transcription factor repressors.
Science (New York, N.Y.) | 2013-11-01 | PMID 24030492
Lee Jeong Hwan, Ryu Hak-Seung, Chung Kyung Sook and 4 more
Safeguards for cell cooperation in mouse embryogenesis shown by genome-wide cheater screen.
Science (New York, N.Y.) | 2013-09-27 | PMID 24030493
Dejosez Marion, Ura Hiroki, Brandt Vicky L and 1 more
LIS1 controls mitosis and mitotic spindle organization via the LIS1-NDEL1-dynein complex.
Human molecular genetics | 2014-01-15 | PMID 24030547
Moon Hyang Mi, Youn Yong Ha, Pemble Hayley and 3 more
Genes: NDEL1
Meiotic recombination strongly influences GC-content evolution in short regions in the mouse genome.
Molecular biology and evolution | 2013-12-01 | PMID 24030552
Clément Yves, Arndt Peter F
Genetic variation at 8q24, family history of cancer, and upper gastrointestinal cancers in a Chinese population.
Familial cancer | 2014-03-01 | PMID 24030569
Tarleton Heather P, Chang Shen-Chih, Park Sungshim Lani and 12 more
Reconstructing an ancestral genotype of two hexachlorocyclohexane-degrading Sphingobium species using metagenomic sequence data.
The ISME journal | 2014-02-01 | PMID 24030592
Sangwan Naseer, Verma Helianthous, Kumar Roshan and 6 more
Rapid genotypic change and plasticity in arbuscular mycorrhizal fungi is caused by a host shift and enhanced by segregation.
The ISME journal | 2014-02-01 | PMID 24030596
Angelard Caroline, Tanner Colby J, Fontanillas Pierre and 3 more
Site-specific monoubiquitination activates Ras by impeding GTPase-activating protein function.
Small GTPases | 2000-01-01 | PMID 24030601
Hobbs G Aaron, Gunawardena Harsha P, Baker Rachael and 1 more
Mutational analysis of the stability of Psb27 from Synechocystis sp. PCC 6803: implications for models of Psb27 structure and binding to CP43.
European biophysics journal : EBJ | 2013-12-01 | PMID 24030639
Mabbitt Peter D, Eaton-Rye Julian J, Wilbanks Sigurd M
Tibetans living at sea level have a hyporesponsive hypoxia-inducible factor system and blunted physiological responses to hypoxia.
Journal of applied physiology (Bethesda, Md. : 1985) | 2014-04-01 | PMID 24030663
Petousi Nayia, Croft Quentin P P, Cavalleri Gianpiero L and 9 more
Genes: EGLN1, EPAS1
The von Hippel-Lindau Chuvash mutation in mice causes carotid-body hyperplasia and enhanced ventilatory sensitivity to hypoxia.
Journal of applied physiology (Bethesda, Md. : 1985) | 2014-04-01 | PMID 24030664
Slingo Mary E, Turner Philip J, Christian Helen C and 2 more
Lack of association between GRIA1 polymorphisms and haplotypes with migraine without aura or response to triptans.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2014-03-01 | PMID 24030684
Cargnin Sarah, Viana Michele, Mittino Daniela and 5 more
Genes: GRIA1
Lack of association of BRAF mutation with negative prognostic indicators in papillary thyroid carcinoma: the University of California, San Francisco, experience.
JAMA otolaryngology-- head & neck surgery | 2013-11-01 | PMID 24030686
Gouveia Christopher, Can Nhu Thuy, Bostrom Alan and 3 more
Genes: BRAF
Loss of CIC and FUBP1 expressions are potential markers of shorter time to recurrence in oligodendroglial tumors.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc | 2014-03-01 | PMID 24030748
Chan Aden Ka-Yin, Pang Jesse Chung-Sean, Chung Nellie Yuk-Fei and 7 more
Genes: CIC
TERT promoter mutations are frequent in atypical fibroxanthomas and pleomorphic dermal sarcomas.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc | 2014-04-01 | PMID 24030750
Griewank Klaus G, Schilling Bastian, Murali Rajmohan and 9 more
Genes: TERT
Expression status of wild-type HSP110 correlates with HSP110 T17 deletion size and patient prognosis in microsatellite-unstable colorectal cancer.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc | 2014-03-01 | PMID 24030751
Kim Jung Ho, Kim Kyung-Ju, Rhee Ye-Young and 4 more
Mutations of the TERT promoter are common in basal cell carcinoma and squamous cell carcinoma.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc | 2014-04-01 | PMID 24030752
Scott Glynis A, Laughlin Todd S, Rothberg Paul G
Genes: TERT
Hemoglobin levels and red blood cell indices in mid-gestational fetuses with beta-thalassemia/HbE, beta-thalassemia trait or Hb E trait and normal fetuses.
Prenatal diagnosis | 2013-12-01 | PMID 24030808
Srisupundit Kasemsri, Wanapirak Chanane, Sirichotiyakul Supatra and 4 more
The functional interaction of mitochondrial Hsp70s with the escort protein Zim17 is critical for Fe/S biogenesis and substrate interaction at the inner membrane preprotein translocase.
The Journal of biological chemistry | 2013-10-25 | PMID 24030826
Lewrenz Ilka, Rietzschel Nicole, Guiard Bernard and 3 more
Lamivudine monotherapy in chronic hepatitis B patients from the Indian subcontinent: antiviral resistance mutations and predictive factors of treatment response.
Molecular diagnosis & therapy | 2014-02-01 | PMID 24030850
Ismail Ashrafali Mohamed, Samuel Prasanna, Ramachandran Jeyamani and 3 more
The characterization of pheochromocytoma and its impact on overall survival in multiple endocrine neoplasia type 2.
The Journal of clinical endocrinology and metabolism | 2013-11-01 | PMID 24030942
Thosani Sonali, Ayala-Ramirez Montserrat, Palmer Lynn and 7 more
Genes: RET
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy.
Brain : a journal of neurology | 2013-11-01 | PMID 24030947
Ricci Giulia, Scionti Isabella, Sera Francesco and 31 more
Genes: DUX4
Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay.
Brain : a journal of neurology | 2013-10-01 | PMID 24030948
Thomas Rhys H, Chung Seo-Kyung, Wood Sian E and 6 more
Genes: GLRB, GLRA1
Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15.
Brain : a journal of neurology | 2013-10-01 | PMID 24030950
Vantaggiato Chiara, Crimella Claudia, Airoldi Giovanni and 12 more
Genes: UVRAG, ZFYVE26
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
Brain : a journal of neurology | 2013-10-01 | PMID 24030952
Németh Andrea H, Kwasniewska Alexandra C, Lise Stefano and 22 more
Genes: DARS2, KCNC3, MRE11, PRKCG, SACS, SETX, SPTBN2, TTBK2
MYC phosphorylation at novel regulatory regions suppresses transforming activity.
Cancer research | 2013-11-01 | PMID 24030976
Wasylishen Amanda R, Chan-Seng-Yue Michelle, Bros Christina and 10 more
Genes: MYC, USP28
Complex response in size-related traits of bulb mites (Rhizoglyphus robini) under elevated thermal conditions - an experimental evolution approach.
The Journal of experimental biology | 2013-12-15 | PMID 24031061
Plesnar-Bielak Agata, Jawor Anna, Kramarz Paulina E
Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis.
Journal of medical genetics | 2013-11-01 | PMID 24031089
Edvardson Simon, Ashikov Angel, Jalas Chaim and 7 more
Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients.
European journal of endocrinology | 2013-12-01 | PMID 24031091
Sarfati Julie, Fouveaut Corinne, Leroy Chrystel and 3 more
Genes: PROKR2, FGF8, FGFR1, PROK2
A novel mutation of laminin β-2 gene in Pierson syndrome manifested with nephrotic syndrome in the early neonatal period.
Genetic counseling (Geneva, Switzerland) | 2013-01-01 | PMID 24032283
Aydin B, Ipek M S, Ozaltin F and 9 more
Genes: LAMB2
Crisponi syndrome: a new mutation in CRLF1 gene associated with moderate outcome.
Genetic counseling (Geneva, Switzerland) | 2013-01-01 | PMID 24032286
Uzunalic N, Zenciroglu A, Beken S and 6 more
Genes: CRLF1
Neuhauser syndrome: a rare association of megalocornea and mental retardation. Review of the literature and further phenotype delineation.
Genetic counseling (Geneva, Switzerland) | 2013-01-01 | PMID 24032289
Gutiérrez-Amavizca B E, Juárez-Vázquez C I, Orozco-Castellanos R and 3 more