Meena Upadhyaya

Q: What Schools Are Affiliated With Meena Upadhyaya

Meena Upadhyaya is affiliated with the following schools: Delhi University, Cardiff University, University of Edinburgh

Meena Upadhyaya's AcademicInfluence.com Rankings

Meena Upadhyaya

Biology

#8120

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#11147

Historical Rank

Genetics

#1025

World Rank

#1123

Historical Rank

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Biology

Meena Upadhyaya's Degrees

Masters Medicine Delhi University

Why Is Meena Upadhyaya Influential?

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According to Wikipedia, Meena Upadhyaya OBE, FRCPath, FLSW is an Indian-born Welsh medical geneticist and an honorary distinguished professor at Cardiff University. Her research has focused on the genes that cause various genetic disorders, in particular neurofibromatosis type I and facioscapulohumeral muscular dystrophy.

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Meena Upadhyaya's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Guidelines for the diagnosis and management of individuals with neurofibromatosis 1 (2006) (806)
Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study (1996) (422)
PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies (2014) (377)
Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection. (1998) (344)
Molecular genetics of neurofibromatosis type 1 (NF1). (1996) (340)
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. (2007) (326)
NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. (2003) (263)
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype (2010) (224)
Large-scale molecular comparison of human schwann cells to malignant peripheral nerve sheath tumor cell lines and tissues. (2006) (201)
Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD) (1995) (194)
Paternal origin of new mutations in Von Recklinghausen neurofibromatosis (1990) (192)
The NF1 somatic mutational landscape in sporadic human cancers (2017) (184)
Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay (1998) (173)
Recombination hotspot in NF1 microdeletion patients. (2001) (173)
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation (2015) (142)
Neurofibromatosis type 1-associated tumours: Their somatic mutational spectrum and pathogenesis (2011) (134)
Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium. (1992) (125)
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 (2017) (123)
High-Resolution DNA Copy Number Profiling of Malignant Peripheral Nerve Sheath Tumors Using Targeted Microarray-Based Comparative Genomic Hybridization (2008) (122)
Integrative genomic analyses of neurofibromatosis tumours identify SOX9 as a biomarker and survival gene (2009) (122)
Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2 (2004) (120)
Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2. (2015) (117)
Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association. (2009) (112)
Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors (2004) (106)
Germline and somatic NF1 gene mutation spectrum in NF1‐associated malignant peripheral nerve sheath tumors (MPNSTs) (2008) (105)
Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene (1996) (105)
Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type (2003) (102)
Evaluation of genotype-phenotype correlations in neurofibromatosis type 1 (2003) (94)
SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype (2009) (88)
Molecular diagnosis of neurofibromatosis type 1: 2 years experience (2006) (83)
Watson syndrome: is it a subtype of type 1 neurofibromatosis? (1991) (82)
A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype–phenotype correlations (2011) (82)
Review and update of SPRED1 mutations causing legius syndrome (2012) (78)
EXCLUSION TESTING FOR HUNTINGTON'S DISEASE IN PREGNANCY WITH A CLOSELY LINKED DNA MARKER (1987) (75)
Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled? (2012) (74)
D4F104S1 deletion in facioscapulohumeral muscular dystrophy (2003) (74)
Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1. (2005) (73)
Molecular basis of neurofibromatosis type 1 (NF1): Mutation analysis and polymorphisms in the NF1 gene (1994) (71)
Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 (NF1) gene (2001) (70)
Analysis of mutations at the neurofibromatosis 1 (NF1) locus. (1992) (70)
Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD) (1997) (68)
Neurofibromatous neuropathy in neurofibromatosis 1 (NF1) (2004) (68)
Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD. (1997) (66)
The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas (2009) (66)
A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere (2006) (63)
Autosomal dominant inheritance of autoantibodies to thyroid peroxidase and thyroglobulin--studies in families not selected for autoimmune thyroid disease. (1991) (61)
A search for evidence of somatic mutations in theNF1 gene (2000) (61)
Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH (2005) (61)
Germline and somatic NF1 gene mutations in plexiform neurofibromas (2008) (57)
Molecular evolution of a neurofibroma to malignant peripheral nerve sheath tumor (MPNST) in an NF1 patient: correlation between histopathological, clinical and molecular findings (2010) (56)
Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non‐microdeletion patients (2006) (55)
Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC‐clone‐based array (2008) (55)
Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations? (2012) (54)
DNA marker applicable to presymptomatic and prenatal diagnosis of facioscapulohumeral disease (1990) (54)
SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints (2014) (54)
Genetic basis of tumorigenesis in NF1 malignant peripheral nerve sheath tumors. (2011) (51)
Genome‐wide high‐resolution analysis of DNA copy number alterations in NF1‐associated malignant peripheral nerve sheath tumors using 32K BAC array (2009) (51)
The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs) (2006) (50)
Microarray‐based copy number analysis of neurofibromatosis type‐1 (NF1)‐associated malignant peripheral nerve sheath tumors reveals a role for Rho–GTPase pathway genes in NF1 tumorigenesis (2012) (50)
Recent developments in neurofibromatoses and RASopathies: Management, diagnosis and current and future therapeutic avenues (2015) (48)
The mapping of chromosome 4q markers in relation to facioscapulohumeral muscular dystrophy (FSHD). (1992) (46)
Phenotypic–genotypic correlation will assist genetic counseling in 4q35‐facioscapulohumeral muscular dystrophy (1995) (46)
Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome. (1990) (45)
Confirmation of mutation landscape of NF1‐associated malignant peripheral nerve sheath tumors (2017) (45)
Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene. (1995) (45)
Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions (2004) (44)
Functional splicing assay shows a pathogenic intronic mutation in neurofibromatosis type 1 (NF1) due to intronic sequence exonization (2006) (42)
Evaluation of the protein truncation test and mutation detection in the NF1 gene: mutational analysis of 15 known and 40 unknown mutations (1999) (42)
Neurofibromatosis type 1: diagnosis and recent advances. (2010) (41)
Cutaneous neurofibromas (2018) (40)
Emerging therapeutic targets for neurofibromatosis type 1 (2018) (39)
Molecular analysis of British facioscapulohumeral dystrophy families for 4q DNA rearrangements. (1993) (39)
A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay. (1996) (39)
Multiple coronary artery aneurysms in a child with neurofibromatosis type 1 (2000) (38)
The mutational spectrum in neurofibromatosis type 1 and its underlying mechanisms (1998) (38)
Hypermethylation of the neurofibromatosis type 1 (NF1) gene promoter is not a common event in the inactivation of the NF1 gene in NF1-specific tumours (2000) (35)
Facioscapulohumeral Muscular Dystrophy : Clinical Medicine and Molecular Cell Biology (2004) (34)
Somatic alterations of the NF1 gene in an NF1 individual with multiple benign tumours (internal and external) and malignant tumour types (2007) (34)
Neurofibromatosis 2011: a report of the Children’s Tumor Foundation Annual Meeting (2011) (33)
A 90 kb DNA deletion associated with neurofibromatosis type 1. (1990) (32)
Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families. (1992) (31)
De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1). (1994) (30)
Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype–phenotype correlation (2012) (30)
Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1 (2002) (30)
Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden (2010) (29)
Further evidence localising the gene for Hunter's syndrome to the distal region of the X chromosome long arm. (1989) (29)
Cutaneous neuro ﬁ bromas Current clinical and pathologic issues (29)
Germinal mosaicism in facioscapulohumeral muscular dystrophy (FSHD) (1995) (28)
Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type‐3 NF1 deletions (2012) (28)
Neurofibromatosis Type 1:: From Genotype to Phenotype (1998) (28)
Back to the future: Proceedings from the 2010 NF Conference (2011) (27)
Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene (1997) (27)
Molecular diagnosis of facioscapulohumeral muscular dystrophy (2002) (26)
Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies (2002) (25)
STAT3 and HIF1α Signaling Drives Oncogenic Cellular Phenotypes in Malignant Peripheral Nerve Sheath Tumors (2015) (25)
A scapular onset muscular dystrophy without facial involvement: Possible allelism with facioscapulohumeral muscular dystrophy (1994) (25)
Unusual features in a patient with neurofibromatosis type 1: Multiple subcutaneous lipomas, a juvenile polyp in ascending colon, congenital intrahepatic portosystemic venous shunt, and horseshoe kidney (2004) (24)
Neurofibromatosis Type 1 (2012) (24)
Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis (2013) (24)
Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas (2011) (24)
Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1 (2012) (24)
Mental retardation and cardiovascular malformations in NF 1 microdeleted patients point to candidate genes in 17 q 11 . 2 * (2004) (24)
A closely linked DNA marker for facioscapulohumeral disease on chromosome 4q. (1991) (23)
Neurofibromatosis type 1: Its association with the Ras/MAPK pathway syndromes (2009) (22)
Evaluation of copy number variation and gene expression in neurofibromatosis type-1-associated malignant peripheral nerve sheath tumours (2015) (22)
Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation (2018) (22)
An emerging role for microRNAs in NF1 tumorigenesis (2012) (22)
Telomerase activity is a biomarker for high grade malignant peripheral nerve sheath tumors in neurofibromatosis type 1 individuals (2008) (22)
Assessment of the potential pathogenicity of missense mutations identified in the GTPase‐activating protein (GAP)‐related domain of the neurofibromatosis type‐1 (NF1) gene (2012) (22)
An exclusion map for facioscapulohumeral (Landouzy-Déjérine) disease. (1989) (22)
Low U1 snRNP dependence at the NF1 exon 29 donor splice site (2009) (21)
Prenatal diagnosis and presymptomatic detection of neurofibromatosis type 1. (1992) (21)
Characterization of six mutations in exon 37 of neurofibromatosis type 1 gene. (1996) (21)
DNA and enzyme studies on chorionic villi for use in antenatal diagnosis. (1984) (21)
Neurofibromatosis type 1 (NF1): the search for mutations by PCR-heteroduplex analysis on Hydrolink gels. (1993) (21)
Prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia by linkage analysis. (1990) (20)
Inheritance of CMT1A duplication from a mosaic father. (1995) (20)
NF1 Gene Structure and NF1 Genotype/Phenotype Correlations (2008) (19)
Abnormal achromatic and chromatic contrast sensitivity in neurofibromatosis type 1. (2012) (19)
Sex ratio and absence of uniparental disomy in spontaneous abortions with a normal karyotype (1998) (19)
Mutation analysis in charcot‐marie‐tooth disease type 1 (CMT1) (1998) (19)
Confirmation that the specific SSLP microsatellite allele 4qA161 segregates with fascioscapulohumeral muscular dystrophy (FSHD) in a cohort of multiplex and simplex FSHD families (2010) (18)
Intragenic deletions in 164 boys with Duchenne muscular dystrophy (DMD) studied with dystrophin cDNA (1990) (18)
Overactivation of Ras signaling pathway in CD133+ MPNST cells (2012) (18)
No evidence for uniparental disomy as a common cause of Sotos syndrome. (1997) (18)
Genetic Variation in the 3′ Untranslated Region of the Neurofibromatosis 1 Gene: Application to Unequal Allelic Expression (1998) (17)
Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy (2014) (16)
Gastric carcinoid: germline and somatic mutation of the neurofibromatosis type 1 gene (2006) (16)
Six novel mutations in the neurofibromatosis type 1 (NF1) gene (1997) (16)
Familial multiple lipomatosis with clear autosomal dominant inheritance and onset in early adolescence (2011) (15)
Neurofibromatosis type 1 & Related Disorders (2008) (15)
Seminal Acid Phosphatase in Relation to Fertility (1986) (14)
Chromosome 2 interstitial deletion (del(2)(q14.1q21)) associated with connective tissue laxity and an attention deficit disorder (2001) (14)
Hereditary motor-sensory neuropathy (Charcot-Marie-Tooth disease) with nerve deafness: a new variant. (1993) (14)
Prenatal diagnosis for facioscapulohumeral muscular dystrophy (FSHD) (1999) (13)
Close flanking markers for neurofibromatosis type I (NF1). (1989) (13)
A genetic linkage study of facioscapulohumeral (Landouzy-Déjérine) disease with 24 polymorphic DNA probes. (1989) (13)
Autosomal dominant inheritance of the tendency of develop thyroid autoantibodies. (2009) (12)
Molecular analysis of the 5′‐flanking region of the neurofibromatosis type 1 (NF1) gene: identification of five sequence variants (2000) (12)
Evidence against location of the gene for facioscapulohumeral muscular dystrophy on the distal long arm of chromosome 14 (1988) (12)
Charcot-Marie-Tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2→12 (1993) (12)
Identification of five novel SPRED1 germline mutations in Legius syndrome (2011) (11)
Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences (2018) (11)
Novel mutation of the myelin P0 gene in a CMT1B family (1997) (11)
Functional analysis of polymorphic variation within the promoter and 5′ untranslated region of the neurofibromatosis type 1 (NF1) gene (2004) (11)
Molecular genetics in clinical practice: evolution of a DNA diagnostic service. (1988) (11)
Mutation analysis of iduronate‐2‐sulphatase gene in 24 patients with Hunter syndrome: Characterisation of 6 novel mutations (1999) (10)
The Germline Mutational Spectrum in Neurofibromatosis Type 1 and Genotype–Phenotype Correlations (2012) (10)
Different sized somatic NF1 locus rearrangements in neurofibromatosis 1-associated malignant peripheral nerve sheath tumors (2011) (9)
A novel mutation in the NF1 gene in two siblings with neurofibromatosis type 1 and bilateral optic pathway glioma (2008) (9)
Telomere erosion in NF1 tumorigenesis (2017) (9)
CHORION BIOPSY FOR PRENATAL TESTING IN HUNTER'S SYNDROME (1984) (9)
Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features (1999) (8)
Chromosome 17 markers and von Recklinghausen neurofibromatosis: a genetic linkage study in a British population. (1987) (8)
Detection of copy number changes at the NF1 locus with improved high‐resolution array CGH (2007) (8)
High-throughput screening for the detection of unknown mutations: improved productivity using heteroduplex analysis. (1998) (8)
Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy. (1995) (8)
The path forward: 2015 International Children's Tumor Foundation conference on neurofibromatosis type 1, type 2, and schwannomatosis (2017) (7)
Towards the finer mapping of facioscapulohumeral muscular dystrophy at 4q35: construction of a laser microdissection library. (1995) (7)
Duchenne muscular dystrophy in Wales: impact of DNA linkage analysis and cDNA deletion screening. (1989) (7)
A large deletion (1.5 Mb) encompassing the neurofibromatosis type 1 (NF1) gene in a patient with sporadic NF1 associated with dysmorphism, mental retardation, and unusual ocular and skeletal features (2003) (7)
First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics (2019) (6)
Lack of sampling site variation in chorion villus biopsy as assessed by DNA, enzymatic, morphological and cytogenetical analyses (1987) (6)
Two single base polymorphisms in introns 41 and 16 of the NF1 gene. (1995) (6)
Six novel mutations in the neurofibromatosis type 1 (NF1) gene. (1997) (6)
Localisation of the gene for Hunter syndrome on the long arm of X chromosome (1986) (5)
De novo DNA rearrangement in atypical facioscapulohumeral muscular dystrophy (1993) (5)
Further exclusion data for the Von Recklinghausen neurofibromatosis gene: a genetic linkage study of 19 polymorphic markers. (1987) (4)
The Somatic Mutational Spectrum of the NF1 Gene (2012) (4)
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study (2021) (4)
Detection of NF1 mutations utilizing the protein truncation test (PTT). (2003) (4)
High resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect. (2021) (4)
DNA Polymorphisms and Fetal Sexing for X-Linked Disorders with Chorionic Biopsy (1985) (4)
Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1 (2013) (4)
Introduction and overview of FSHD (2004) (3)
Germinal mosaicism in facioscapulohumeral muscular dystrophy (FSHD). (1995) (3)
A HindIII polymorphism identified by a DNA clone which maps to chromosome 17 (D17S245). (1990) (3)
Amplification of the total coding sequence of the NF1 gene from peripheral blood lymphocyte RNA. (1995) (3)
The Molecular Biology of Neurofibromatosis Type 1 (2014) (3)
DNA Probes (2020) (3)
Management of Neurofibromatosis Type 1-Associated Plexiform Neurofibromas. (2022) (3)
Neurofibromatosis type 1: a common familial cancer syndrome. (2004) (3)
17. Regional mapping of the facioscapulohumeral muscular dystrophy gene on 4q35: linkage analysis of the International Consortium (1992) (2)
De novo facioscapulohumeral muscular dystrophy defined by DNA probe pl 3 E-1 1 ( D 4 F 104 S 1 ) (2004) (2)
An absence of cutaneous neurofibromas associated with a 3-bp in-frame deletion in exon 17 of the NF1 gene (c.2970_2972 deIAAT (2006) (2)
Recombinant DNA studies on stored necropsy brain samples from patients with Huntington's chorea. (1985) (2)
A case of Miller-Dieker syndrome in a family with neurofibromatosis type I (2000) (2)
Exclusion Testing for Huntingtonʼs Disease in Pregnancy with a Closely Linked DNA Marker (1988) (2)
Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences (2018) (2)
High resolution FISH analysis of NF1 REP and non-REP microdeletions evidences nonhomologous end joining mediated rearrangements (2003) (1)
Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1splice-site mutations? (2012) (1)
Further evidence localising thegeneforHunter's syndrome tothedistal region oftheX chromosome long arm (1989) (1)
Abstract LB-79: PRC2 loss amplifies Ras-driven transcription and sensitizes cancers to bromodomain inhibitor-based combination therapies (2014) (1)
Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD (2015) (1)
Correlation of copy number changes and gene expression in neurofibromatosis1-associated malignant peripheral nerve sheath tumours (2015) (1)
Chorion villus sampling in X-linked genetic disorders (1987) (1)
Chorionic villus sampling for prenatal diagnosis in wales using DNA probes—5 years' experience (1990) (1)
Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome. (2010) (1)
An emerging role for microRNAs in NF1 tumorigenesis (2012) (1)
Screening in silico predicted remotely acting NF1gene regulatory elements for mutations in patients with neurofibromatosis type 1 (2013) (1)
Genotype-phenotype correlation in patients with NF1 microdeletion syndrome: identification of candidate genes for mental retardation (2002) (1)
Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome. (2010) (1)
P57: New order: redesigning referral pathways to improve access for patients from dermatology outpatient waiting lists (2022) (0)
Loss of PRC2 Amplifies Ras-driven Transcription and Sensitizes MPNSTs to Bromodomain Inhibitor-based Combination Therapies (2014) (0)
peripheral blood lymphocyte RNA. Amplification of the total coding sequence of the NF1 gene from (2012) (0)
Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled? (2011) (0)
SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints (2014) (0)
Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome. (2010) (0)
Characterization of breakpoint boundaries in 19 Neurofibromatosis type 1 microdeletions (2005) (0)
170 Segmental/mosaic neurofibromatosis type 1 (NF1): A clinical study (1999) (0)
Neurofibromatosis Type 1 (NF1), genetics (2006) (0)
DNA microarray for detection of copy number changes at the NF1 locus using array comparative genomic hybridisation (CGH) analysis [Abstract] (2006) (0)
The germline and somatic NF1 mutational spectra associated with NF1 cutaneous neurofibromas: Identification of 60 novel somatic NF1 mutations (2011) (0)
Evaluation of copy number variation and gene expression in neurofibromatosis type-1-associated malignant peripheral nerve sheath tumours (2015) (0)
A search for uniparental disomy associated with Cornelia de Lange syndrome and with spontaneous abortion (1994) (0)
Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD (2015) (0)
Title The path forward : 2015 International Children ' s Tumor Foundation conference on neurofibromatosis type 1 , type 2 , and schwannomatosis Permalink (2017) (0)
No evidence for PTEN mutations as a cause of Sotos syndrome (2000) (0)
Cervical spine neurofibromas in NF1 microdeletion patients (2006) (0)
Somatic Copy Number Alterations: Gene and Protein Expression Correlates in NF1-Associated Malignant Peripheral Nerve Sheath Tumors (2012) (0)
Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome. (2010) (0)
RNA processing defects in genetic disease (2006) (0)
The molecular genetics of facioscapulohumeral muscular dystrophy (2001) (0)
Comparison of germline and somatic mutational spectra in NF1-associated peripheral nerve sheath tumours (MPNSTs) (2006) (0)
Neurofibromatosis type 1 (NF1) (2006) (0)
Wagner-Stickler syndrome. gene in a family with Exclusion of COL2A1 as a candidate (2009) (0)
A de novo nonsense mutation in exon 28 of the neurofibromatosis type l (NF1) gene (1993) (0)
Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1 (2012) (0)
RT-PCR amplification of the complete NF1 coding sequence (1994) (0)
Phenotype-genotype correlation with aticipation assists DNA models, gene search and clinical application for FSH dystrophy (FSHD) (1996) (0)
P58: Pigment epithelia‐derived factor drives invasion in NF1‐mutant malignant melanoma (2022) (0)
individuals with Neurofibromatosis 1 (NF1) Guidelines for the diagnosis and management of (2007) (0)
Detection of mosaicism in a CMT1a patient using FISH (1994) (0)
No evidence for PTEN mutations as a common cause of Sotos syndrome or autosomal dominant macrocephaly (2000) (0)
Molecular analysis of facioscapulohumeral muscular dystrophy (FSHD) (1994) (0)
Molecular diagnosis of Neurofibromatosis Type 1 (NF1): An 18 months experience [Abstract] (2005) (0)
Comprehensive DNA copy number profiling of malignant peripheral nerve sheath tumours (MPNSTs) using array based comparative genomic hybridisation (array-CGH) [Abstract] (2006) (0)
Molecular genetics inclinical practice: evolution ofaDNA diagnostic service (1988) (0)
Inheritance ofCMT1A duplication froma mosaic father (1995) (0)
Watson syndrome: isita subtype oftype1 neurofibromatosi s? (1991) (0)
ICRF handbook of genome analysis: Nigel K. Spurr, Bryan D. Young, Stephen P. Bryant (Editors) (1998) (0)
The NF1 somatic mutational landscape in sporadic human cancers (2017) (0)
Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome. (2010) (0)
Letters to the Editor Pseudoxanthoma elasticum: evidence for the existence of a pseudogene highly homologous to the ABCC6 gene (2001) (0)

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