| # | Cited
nodes | Nodes / Authors | GCS | LCS |
| 1 | 2 | 1 2001 CANCER RESEARCH 61(19):7020-7024
Stella A; Wagner A; Shito K; Lipkin SM; Watson P; Guanti G; Lynch HT; Fodde R; Liu B
A nonsense mutation in MLH1 causes exon skipping in three unrelated HNPCC families | 2 | 1
|
| 2 | 1 | 2 2001 CANCER RESEARCH 61(20):7616-7622
Heinimann K; Thompson A; Locher A; Furlanetto T; Bader E; Wolf A; Meier R; Walter K; Bauerfeind P; Marra G; Muller H; Foernzler D; Dobbie Z
Nontruncating APC germ-line mutations and mismatch repair deficiency play a minor role in APC mutation-negative polyposis | 2 | 0
|
| 3 | 2 | 3 2001 CELL 107(4):411-414
Mendell JT; Dietz HC
When the message goes awry: Disease-producing mutations that influence mRNA content and performance | 35 | 9
|
| 4 | 1 | 4 2001 CLINICAL AUTONOMIC RESEARCH 11(2):67-78
Garland EM; Biaggioni I
Genetic polymorphisms of adrenergic receptors | 3 | 0
|
| 5 | 1 | 5 2001 CURRENT OPINION IN CELL BIOLOGY 13(3):302-309
Hastings ML; Krainer AR
Pre-mRNA splicing in the new millennium | 74 | 7
|
| 6 | 1 | 6 2001 CURRENT OPINION IN GENETICS & DEVELOPMENT 11(3):241-246
Antonarakis SE
Chromosome 21: from sequence to applications | 10 | 0
|
| 7 | 1 | 7 2001 CURRENT OPINION IN GENETICS & DEVELOPMENT 11(3):258-263
Meltzer PS
Spotting the target: microarrays for disease gene discovery | 12 | 0
|
| 8 | 2 | 8 2001 CURRENT OPINION IN LIPIDOLOGY 12(6):663-665
Baralle M; Baralle FE
Genetics and molecular biology | 1 | 0
|
| 9 | 1 | 9 2001 EUROPEAN JOURNAL OF HUMAN GENETICS 9(9):685-689
Li CM; Cha HK; Liu YF; Su TS
A nonsense mutation is responsible for the RNA-negative phenotype in human citrullinaemia | 1 | 0
|
| 10 | 1 | 10 2001 FEBS LETTERS 508(2):175-180
Brooks H; Krahenbuhl S
Identification and tissue distribution of two differentially spliced variants of the rat carnitine transporter OCTN2 | 2 | 0
|
| 11 | 1 | 11 2001 GENE 281(1-2):31-41
Di Palma F; Pellegrino R; Noben-Trauth K
Genomic structure, alternative splice forms and normal and mutant alleles of cadherin 23 (Cdh23) | 3 | 0
|
| 12 | 1 | 12 2001 GENOMICS 77(3):127-134
Manson A; Huxley C
Skipping of exon 9 of human CFTR in YAC-transgenic mice | 1 | 0
|
| 13 | 1 | 13 2001 HUMAN GENETICS 109(5):512-520
Urban Z; Zhang J; Davis EC; Maeda GK; Kumar A; Stalker H; Belmont JW; Boyd CD; Wallace MR
Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene | 3 | 0
|
| 14 | 1 | 14 2001 HUMAN GENETICS 109(6):616-622
Guimaraes CP; Lemos M; Menezes I; Coelho T; Sa-Miranda C; Azevedo JE
Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP | 2 | 0
|
| 15 | 1 | 15 2001 HUMAN MOLECULAR GENETICS 10(14):1485-1490
Karniski LP
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype | 6 | 0
|
| 16 | 1 | 16 2001 HUMAN MOLECULAR GENETICS 10(18):1889-1900
Ellison AR; Lofing J; Bitter GA
Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae | 8 | 0
|
| 17 | 1 | 17 2001 HUMAN MOLECULAR GENETICS 10(24):2841-2849
Andreassi C; Jarecki J; Zhou JH; Coovert DD; Monani UR; Chen XC; Whitney M; Pollok B; Zhang ML; Androphy E; Burghes AHM
Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients | 24 | 6
|
| 18 | 1 | 18 2001 IMMUNITY 15(3):363-374
Trowsdale J
Genetic and functional relationships between MHC and NK receptor genes | 39 | 0
|
| 19 | 1 | 19 2001 IMMUNOLOGICAL REVIEWS 181():20-38
Trowsdale J; Barten R; Haude A; Stewart CA; Beck S; Wilson MJ
The genomic context of natural killer receptor extended gene families | 30 | 0
|
| 20 | 2 | 20 2001 JOURNAL OF BIOLOGICAL CHEMISTRY 276(26):24341-24347
Lynch KW; Weiss A
A CD45 polymorphism associated with multiple sclerosis disrupts an exonic splicing silencer | 15 | 1
|
| 21 | 1 | 21 2001 JOURNAL OF BIOLOGICAL CHEMISTRY 276(46):42986-42993
Kalbfuss B; Mabon SA; Misteli T
Correction of alternative splicing of tau in frontotemporal dementia and Parkinsonism linked to chromosome 17 | 8 | 2
|
| 22 | 1 | 22 2001 JOURNAL OF CELLULAR AND MOLECULAR MEDICINE 5(3):267-275
Custodio N; Carmo-Fonseca M
Quality control of gene expression in the nucleus | 1 | 0
|
| 23 | 1 | 23 2001 JOURNAL OF MEDICAL GENETICS 38(12):863-867
Montera M; Piaggio F; Marchese C; Gismondi V; Stella A; Resta N; Varesco L; Guanti G; Mareni C
A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family | 1 | 1
|
| 24 | 1 | 24 2001 JOURNAL OF MOLECULAR ENDOCRINOLOGY 27(2):123-131
Akker SA; Smith PJ; Chew SL
Nuclear post-transcriptional control of gene expression | 9 | 0
|
| 25 | 1 | 25 2001 MOLECULAR CELL 8(1):33-43
Muhlemann O; Mock-Casagrande CS; Wang J; Li SL; Custodio N; Carmo-Fonseca M; Wilkinson MF; Moore MJ
Precursor RNAs harboring nonsense codons accumulate near the site of transcription | 34 | 7
|
| 26 | 1 | 26 2001 MOLECULAR CELL 8(6):1351-1361
Zhu J; Mayeda A; Krainer AR
Exon identity established through differential antagonism between exonic splicing silencer-bound hnRNP A1 and enhancer- bound SR proteins | 26 | 6
|
| 27 | 2 | 27 2001 NATURE GENETICS 27(1):1-2
[Anon]
Chopping and changing | 0 | 0
|
| 28 | 1 | 28 2001 NATURE GENETICS 27(1):5-6
Maquat LE
The power of point mutations | 14 | 5
|
| 29 | 0 | 29 2001 NATURE GENETICS 27(1):55-58
Liu HX; Cartegni L; Zhang MQ; Krainer AR
A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes | 109 | 109
|
| 30 | 1 | 30 2001 NEOPLASIA 3(2):99-104
Macoska JA; Xu JL; Ziemnicka D; Schwab TS; Rubin MA; Kotula L
Loss of expression of human spectrin src homology domain binding protein 1 is associated with 10p loss in human prostatic adenocarcinoma | 0 | 0
|
| 31 | 1 | 31 2001 PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 98(22):12614-12619
Ferrari S; Giliani S; Insalaco A; Al-Ghonaium A; Soresina AR; Loubser M; Avanzini MA; Marconi M; Badolato R; Ugazio AG; Levy Y; Catalan N; Durandy A; Tbakhi A; Notarangelo LD; Plebani A
Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM | 26 | 2
|
| 32 | 1 | 32 2001 TRENDS IN GENETICS 17(5):252-253
Orban TI; Olah E
Purifying selection on silent sites - a constraint from splicing regulation? | 2 | 2
|
| 33 | 1 | 33 2002 AMERICAN JOURNAL OF HUMAN GENETICS 70(3):663-672
Frosk P; Weiler T; Nylen E; Sudha T; Greenberg CR; Morgan K; Fujiwara TM; Wrogemann K
Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene | 7 | 0
|
| 34 | 1 | 34 2002 AMERICAN JOURNAL OF HUMAN GENETICS 70(4):994-1002
Ishii S; Nakao S; Minamikawa-Tachino R; Desnick RJ; Fan JQ
Alternative splicing in the alpha-galactosidase A gene: Increased exon inclusion results in the Fabry cardiac phenotype | 8 | 1
|
| 35 | 4 | 35 2002 AMERICAN JOURNAL OF HUMAN GENETICS 71(3):625-631
Fackenthal JD; Cartegni L; Krainer AR; Olopade OI
BRCA2 T2722R is a deleterious allele that causes exon skipping | 4 | 4
|
| 36 | 1 | 36 2002 ARCHIVES OF NEUROLOGY 59(2):281-286
Meijer IA; Hand CK; Cossette P; Figlewicz DA; Rouleau GA
Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia | 4 | 0
|
| 37 | 1 | 37 2002 BLOOD 100(3):774-777
Milledge J; Shaw PJ; Mansour A; Williamson S; Bennetts B; Roscioli T; Curtin J; Christodoulou J
Allogeneic bone marrow transplantation: cure for familial Mediterranean fever | 3 | 0
|
| 38 | 1 | 38 2002 BRITISH JOURNAL OF CANCER 86(11):1824-1830
Line A; Stengrevics A; Slucka Z; Li G; Jankevics E; Rees RC
Serological identification and expression analysis of gastric cancer-associated genes | 7 | 1
|
| 39 | 2 | 39 2002 BULLETIN DE L ACADEMIE NATIONALE DE MEDECINE 186(5):895-906
Jeanteur P
From genomics to post-genomics: back to the origins ? | 0 | 0
|
| 40 | 2 | 40 2002 CANCER GENETICS AND CYTOGENETICS 139(1):78-83
Line A; Slucka Z; Stengrevics A; Li G; Rees RC
Altered splicing pattern of TACC1 mRNA in gastric cancer | 0 | 0
|
| 41 | 1 | 41 2002 CANCER RESEARCH 62(16):4579-4582
Nakagawa H; Yan H; Lockman J; Hampel H; Kinzler KW; Vogelstein B; de la Chapelle A
Allele separation facilitates interpretation of potential splicing alterations and genomic rearrangements | 6 | 0
|
| 42 | 2 | 42 2002 CLINICAL GENETICS 61(3):222-225
Takahashi I; Takahashi T; Komatsu M; Sato T; Takeda G
An exonic mutation of the GH-1 gene causing familial isolated growth hormone deficiency type II | 1 | 0
|
| 43 | 9 | 43 2002 DNA AND CELL BIOLOGY 21(11):803-818
Stoilov P; Meshorer E; Gencheva M; Glick D; Soreq H; Stamm S
Defects in pre-mRNA processing as causes of and predisposition to diseases | 4 | 0
|
| 44 | 1 | 44 2002 ENDOCRINOLOGY 143(1):146-154
Smith PJ; Spurrell EL; Coakley J; Hinds CJ; Ross RJM; Krainer AR; Chew SL
An exonic splicing enhancer in human IGF-I pre-mRNA mediates recognition of alternative exon 5 by the serine-arginine protein splicing factor-2/alternative splicing factor | 3 | 1
|
| 45 | 1 | 45 2002 EUROPEAN JOURNAL OF HUMAN GENETICS 10(11):733-740
Cave-Riant F; Denier C; Labauge P; Cecillon M; Maciazek J; Joutel A; Couteulx SLL; Tournier-Lasserve E; Societe Francaise Neurochirurgie
Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations | 3 | 0
|
| 46 | 1 | 46 2002 EUROPEAN JOURNAL OF IMMUNOLOGY 32(1):18-29
Witt CS; Whiteway JM; Warren HS; Barden A; Rogers M; Martin A; Beilin L; Christiansen FT
Alleles of the KIR2DL4 receptor and their lack of association with pre-eclampsia | 5 | 0
|
| 47 | 1 | 47 2002 GENE EXPRESSION 10(1-2):79-92
Singh R
RNA-protein interactions that regulate pre-mRNA splicing | 4 | 0
|
| 48 | 7 | 48 2002 GENES & DEVELOPMENT 16(14):1743-1753
Maquat LE
NASty effects on fibrillin pre-mRNA splicing: another case of ESE does it, but proposals for translation-dependent splice site choice live on | 8 | 4
|
| 49 | 2 | 49 2002 GENES & DEVELOPMENT 16(14):1754-1759
Caputi M; Kendzior RJ; Beemon KL
A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer | 10 | 6
|
| 50 | 1 | 50 2002 HUMAN GENETICS 110(5):495-502
Thomson SAM; Wallace MR
RT-PCR splicing analysis of the NF1 open reading frame | 5 | 0
|
| 51 | 2 | 51 2002 HUMAN GENETICS 111(2):161-165
Yorifuji T; Kawai M; Muroi J; Mamada M; Kurokawa K; Shigematsu Y; Hirano S; Sakura N; Yoshida I; Kuhara T; Endo F; Mitsubuchi H; Nakahata T
Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications | 1 | 0
|
| 52 | 1 | 52 2002 HUMAN GENETICS 111(6):548-554
King K; Flinter FA; Nihalani V; Green PM
Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome | 2 | 0
|
| 53 | 1 | 53 2002 HUMAN MOLECULAR GENETICS 11(5):577-587
Young PJ; DiDonato CJ; Hu D; Kothary R; Androphy EJ; Lorson CL
SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2 beta 1 | 12 | 1
|
| 54 | 3 | 54 2002 HUMAN MOLECULAR GENETICS 11(23):2805-2814
Perrin-Vidoz L; Sinilnikova OM; Stoppa-Lyonnet D; Lenoir GM; Mazoyer S
The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons | 5 | 0
|
| 55 | 1 | 55 2002 HUMAN MUTATION 20(1):35-47
Wautot V; Vercherat C; Lespinasse J; Chambe B; Lenoir GM; Zhang CX; Porchet N; Cordier M; Beroud C; Calender A
Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: Search for correlation between phenotype and the functional domains of the MEN1 protein | 10 | 0
|
| 56 | 1 | 56 2002 HUMAN MUTATION 20(3):153-161
Robinson PN; Booms P; Katzke S; Ladewig M; Neumann L; Palz M; Pregla R; Tiecke F; Rosenberg T
Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies | 7 | 0
|
| 57 | 1 | 57 2002 INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY 46(1):89-96
Antonarakis SE; Lyle R; Deutsch S; Reymond A
Chromosome 21: a small land of fascinating disorders with unknown pathophysiology | 1 | 0
|
| 58 | 1 | 58 2002 JOURNAL OF CELL SCIENCE 115(15):3033-3038
Wagner E; Lykke-Andersen J
mRNA surveillance: the perfect persist | 14 | 1
|
| 59 | 1 | 59 2002 JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM 87(2):847-852
Moseley CT; Mullis PE; Prince MA; Phillips JA
An Exon splice enhancer mutation causes autosomal dominant GH deficiency | 7 | 2
|
| 60 | 1 | 60 2002 JOURNAL OF CLINICAL PATHOLOGY-MOLECULAR PATHOLOGY 55(1):1-18
Bowen DJ
Haemophilia a and haemophilia b: molecular insights | 2 | 1
|
| 61 | 2 | 61 2002 JOURNAL OF CLINICAL PATHOLOGY-MOLECULAR PATHOLOGY 55(2):127-144
Bowen DJ
Haemophilia A and haemophilia B: Molecular insights (vol 55, pg 1, 2002) | 0 | 0
|
| 62 | 1 | 62 2002 JOURNAL OF INHERITED METABOLIC DISEASE 25(3):157-182
Cooper DN
Human gene mutation in pathology and evolution | 0 | 0
|
| 63 | 1 | 63 2002 JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS 302(2):416-423
Zhang XL; Su T; Zhang QY; Gu J; Caggana M; Li HM; Ding XX
Genetic Polymorphisms of the human CYP2A13 gene: Identification of single-nucleotide polymorphisms and functional characterization of an Arg257Cys variant | 5 | 0
|
| 64 | 4 | 64 2002 JOURNAL OF STRUCTURAL BIOLOGY 140(1-3):116-122
Miriami E; Motro U; Sperling J; Sperling R
Conservation of an open-reading frame as an element affecting 5 ' splice site selection | 1 | 0
|
| 65 | 1 | 65 2002 LEUKEMIA & LYMPHOMA 43(8):1627-1635
Goodman PA; Juran B; Wood CM; Uckun F
Genomic studies of the spleen protein tyrosine kinase locus reveal a complex promoter structure and several genetic variants | 0 | 0
|
| 66 | 6 | 66 2002 MOLECULAR CELL 10(4):951-957
Wang J; Chang YF; Hamilton JI; Wilkinson MF
Nonsense-associated altered splicing: A frame-dependent response distinct from nonsense-mediated decay | 5 | 1
|
| 67 | 1 | 67 2002 MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS 501(1-2):37-44
Skandalis A; Ninniss PJ; McCormac D; Newton L
Spontaneous frequency of exon skipping in the human HPRT gene | 2 | 0
|
| 68 | 2 | 68 2002 MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS 508(1-2):99-105
Balraj P; Concannon P; Jamal R; Beghini A; Hoe TS; Khoo AS; Volpi L
An unusual mutation in RECQ4 gene leading to Rothmund-Thomson syndrome | 4 | 0
|
| 69 | 6 | 69 2002 NATURE 418(6894):236-243
Maniatis T; Tasic B
Alternative pre-mRNA splicing and proteome expansion in metazoans | 41 | 3
|
| 70 | 1 | 70 2002 NATURE GENETICS 30(1):13-19
Modrek B; Lee C
A genomic view of alternative splicing | 97 | 7
|
| 71 | 2 | 71 2002 NATURE GENETICS 30(4):377-384
Cartegni L; Krainer AR
Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1 | 23 | 9
|
| 72 | 1 | 72 2002 NATURE GENETICS 30(4):426-429
Pagani F; Buratti E; Stuani C; Bendix R; Dork T; Baralle FE
A new type of mutation causes a splicing defect in ATM | 14 | 7
|
| 73 | 9 | 73 2002 NATURE REVIEWS GENETICS 3(4):285-298
Cartegni L; Chew SL; Krainer AR
Listening to silence and understanding nonsense: Exonic mutations that affect splicing | 79 | 16
|
| 74 | 1 | 74 2002 NEUROGENETICS 4(1):59-60
Humeny A; Schiebel K; Seeber S; Becker CM
Identification of polymorphisms within the bovine prion protein gene (Prnp) by DNA sequencing and genotyping by MALDI-TOF-MS | 5 | 0
|
| 75 | 1 | 75 2002 ONCOGENE 21(7):1097-1107
Moll F; Katsaros D; Lazennec G; Hellio N; Roger P; Giacalone PL; Chalbos D; Maudelonde T; Rochefort H; Pujol P
Estrogen induction and overexpression of fibutin-1C mRNA in ovarian cancer cells | 5 | 0
|
| 76 | 1 | 76 2002 ONCOGENE 21(11):1768-1776
Shin CY; Mellon I; Turker MS
Multiple mutations are common at mouse Aprt in genotoxin- exposed mismatch repair deficient cells | 7 | 0
|
| 77 | 1 | 77 2002 PHARMACOGENETICS 12(6):437-450
Tang K; Ngoi SM; Gwee PC; Chua JMZ; Lee EJD; Chong SS; Lee CGL
Distinct haplotype profiles and strong linkage disequilibrium at the MDR1 multidrug transporter gene locus in three ethnic Asian populations | 15 | 0
|
| 78 | 2 | 78 2002 PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 99(8):5277-5282
Li BH; Wachtel C; Miriami E; Yahalom G; Friedlander G; Sharon G; Sperling R; Sperling J
Stop codons affect 5 ' splice site selection by surveillance of splicing | 13 | 8
|
| 79 | 4 | 79 2002 SCIENCE 297(5578):108-110
Wang J; Hamilton JI; Carter MS; Li S; Wilkinson MF
Alternatively spliced TCR mRNA induced by disruption of reading frame | 10 | 4
|
| 80 | 2 | 80 2002 SCIENCE 297(5583):1007-1013
Fairbrother WG; Yeh RF; Sharp PA; Burge CB
Predictive identification of exonic splicing enhancers in human genes | 21 | 4
|
| 81 | 1 | 81 2002 SEMINARS IN CANCER BIOLOGY 12(5):359-371
Catteau A; Morris JR
BRCA1 methylation: a significant role in tumour development? | 3 | 0
|
| 82 | 2 | 82 2002 TRENDS IN GENETICS 18(3):123-127
Nissim-Rafinia M; Kerem B
Splicing regulation as a potential genetic modifier | 27 | 0
|
| 83 | 3 | 83 2002 TRENDS IN GENETICS 18(4):186-193
Caceres JF; Kornblihtt AR
Alternative splicing: multiple control mechanisms and involvement in human disease | 39 | 6
|
| 84 | 1 | 84 2003 BLOOD 101(1):325-330
Wandersee NJ; Birkenmeier CS; Bodine DM; Mohandas N; Barker JE
Mutations in the murine erythroid alpha-spectrin gene alter spectrin mRNA and protein levels and spectrin incorporation into the red blood cell membrane skeleton | 1 | 0
|
| 85 | 2 | 85 2003 BRITISH JOURNAL OF CANCER 88(2):210-216
Hsieh SY; Liaw SF; Lee SN; Hsieh PS; Lin KH; Chu CM; Liaw YF
Aberrant caspase-activated DNase (CAD) transcripts in human hepatoma cells | 1 | 0
|
| 86 | 1 | 86 2003 CANCER GENETICS AND CYTOGENETICS 141(2):175-176
Agata S; De Nicolo A; Chieco-Bianchi L; D'Andrea E; Menin C; Montagna M
The BRCA2 sequence variant IVS19+1G -> A leads to an aberrant transcript lacking exon 19 | 0 | 0
|
| 87 | 1 | 87 2003 CANCER RESEARCH 63(12):3317-3324
Wang M; Lemon WJ; Liu GJ; Wang Y; Iraqi FA; Malkinson AM; You M
Fine mapping and identification of candidate pulmonary adenoma susceptibility 1 genes using advanced intercross lines | 1 | 0
|
| 88 | 2 | 88 2003 CANCER RESEARCH 63(12):3325-3333
Thorstenson YR; Roxas A; Kroiss R; Jenkins MA; Yu KM; Bachrich T; Muhr D; Wayne TL; Chu G; Davis RW; Wagner TMU; Oefner PJ
Contributions of ATM mutations to familial breast and ovarian cancer | 0 | 0
|
| 89 | 3 | 89 2003 CLINICAL GENETICS 63(6):476-482
Lai LW; Whitehair O; Wu MJ; O'Meara M; Lien YH
Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease | 0 | 0
|
| 90 | 13 | 90 2003 GENES & DEVELOPMENT 17(4):419-437
Faustino NA; Cooper TA
Pre-mRNA splicing and human disease | 6 | 1
|
| 91 | 1 | 91 2003 GENOMICS 82(4):452-459
Buchner DA; Trudeau M; George AL; Sprunger LK; Meisler MH
High-resolution mapping of the sodium channel modifier Scnm1 on mouse chromosome 3 and identification of a 1.3-kb recombination hot spot | 0 | 0
|
| 92 | 2 | 92 2003 HUMAN MOLECULAR GENETICS 12(2):99-109
Lamba JK; Adachi M; Sun DX; Tammur J; Schuetz EG; Allikmets R; Schuetz JD
Nonsense mediated decay downregulates conserved alternatively spliced ABCC4 transcripts bearing nonsense codons | 0 | 0
|
| 93 | 1 | 93 2003 HUMAN MOLECULAR GENETICS 12(3):205-216
Duan JB; Wainwright MS; Comeron JM; Saitou N; Sanders AR; Gelernter J; Gejman PV
Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor | 5 | 0
|
| 94 | 4 | 94 2003 HUMAN MOLECULAR GENETICS 12(10):1111-1120
Pagani F; Stuani C; Tzetis M; Kanavakis E; Efthymiadou A; Doudounakis S; Casals T; Baralle FE
New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12 | 2 | 2
|
| 95 | 7 | 95 2003 HUMAN MOLECULAR GENETICS 12(17):2121-2131
Yang YP; Swaminathan S; Martin BK; Sharan SK
Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse model | 0 | 0
|
| 96 | 3 | 96 2003 INTERNATIONAL JOURNAL OF CANCER 106(4):588-593
de Sanjose S; Leone M; Berez V; Izquierdo A; Font R; Brunet JM; Louat T; Vilardell L; Borras J; Viladiu P; Bosch FX; Lenoir GM; Sinilnikova OM
Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: A population-based study | 0 | 0
|
| 97 | 1 | 97 2003 JOURNAL OF BIOLOGICAL CHEMISTRY 278(17):15291-15296
Yang TY; McNally BA; Ferrone S; Liu Y; Zheng P
A single-nucleotide deletion leads to rapid degradation of TAP- 1 mRNA in a melanoma cell line | 1 | 0
|
| 98 | 9 | 98 2003 JOURNAL OF BIOLOGICAL CHEMISTRY 278(29):26580-26588
Pagani F; Buratti E; Stuani C; Baralle FE
Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9 | 0 | 0
|
| 99 | 2 | 99 2003 JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM 88(4):1705-1710
Pantel J; Grulich-Henn J; Bettendorf M; Strasburger CJ; Heinrich U; Amselem S
Heterozygous nonsense mutation in exon 3 of the growth hormone receptor (GHR) in severe GH insensitivity (Laron syndrome) and the issue of the origin and function of the GHRd3 isoform | 0 | 0
|
| 100 | 1 | 100 2003 JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM 88(6):2508-2517
Sartorato P; Lapeyraque AL; Armanini D; Kuhnle U; Khaldi Y; Salomon R; Abadie R; Di Battista E; Naselli A; Racine A; Bosio M; Caprio M; Poulet-Young V; Chabrolle JP; Niaudet P; De Gennes C; Lecornec MH; Poisson E; Fusco AM; Loli P; Lombes M; Zennaro MC
Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism | 0 | 0
|