[PDF][PDF] Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly
…, D Carles, A Bazin, J Aziza, A Clemenson… - The American Journal of …, 2012 - cell.com
Cobblestone lissencephaly is a peculiar brain malformation with characteristic radiological
anomalies. It is defined as cortical dysplasia that results when neuroglial overmigration into …
anomalies. It is defined as cortical dysplasia that results when neuroglial overmigration into …
Spectrum of mutations in the renin–angiotensin system genes in autosomal recessive renal tubular dysgenesis
…, JR Sampson, JA Bernstein, A Clemenson… - Human …, 2012 - Wiley Online Library
Autosomal recessive renal tubular dysgenesis (RTD) is a severe disorder of renal tubular
development characterized by early onset and persistent fetal anuria leading to …
development characterized by early onset and persistent fetal anuria leading to …
Technetium-99m-sestamibi uptake in breast tumor and associated lymph nodes
…, M de Latour, D Mestas, A Clemenson - The Journal of …, 1996 - search.proquest.com
with octreotide. Finally. although metabolic therapy using Page 1 sensitivity of lymphoma lesion
detection as opposed to the constantly good results in GEP tumors. Also, SRI may not be …
detection as opposed to the constantly good results in GEP tumors. Also, SRI may not be …
Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes
L Mary, K Chennen, C Stoetzel, M Antin… - Clinical …, 2019 - Wiley Online Library
Bardet‐Biedl syndrome (BBS) is an emblematic ciliopathy associated with retinal dystrophy,
obesity, postaxial polydactyly, learning disabilities, hypogonadism and renal dysfunction. …
obesity, postaxial polydactyly, learning disabilities, hypogonadism and renal dysfunction. …
Impact of delayed fixation and decalcification on PD-L1 expression: a comparison of two clones
…, P Dal Col, F Camy, M Mobarki, A Clemenson… - Virchows Archiv, 2019 - Springer
The bone is a frequent localization for lung non-small cell cancer metastasis; decalcification
is required to permit tissue section. Pre-analytical conditions can influence the detection of …
is required to permit tissue section. Pre-analytical conditions can influence the detection of …
Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases
…, M Joubert, M Denis‐Musquer, A Clemenson… - Prenatal …, 2016 - Wiley Online Library
Objectives To describe macroscopic and microscopic anomalies present in fetuses carrying
hepatocyte nuclear factor‐1 β mutation, their frequency, and genotype/phenotype …
hepatocyte nuclear factor‐1 β mutation, their frequency, and genotype/phenotype …
Fetal megacystis‐microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene
C Billon, A Molin, C Poirsier, A Clemenson… - Clinical …, 2020 - Wiley Online Library
Megacystis‐microcolon‐intestinal‐hypoperistalsis syndrome (MMIHS) is a severe
congenital visceral myopathy characterized by an abdominal distension due to a large non‐obstructed …
congenital visceral myopathy characterized by an abdominal distension due to a large non‐obstructed …
Implementation of molecular intra-operative assessment of sentinel lymph node in breast cancer
…, SA Berremila, F Forest, A Clemenson… - Anticancer …, 2011 - ar.iiarjournals.org
Background: Sentinel lymph node (SLN) biopsy is used as a staging procedure in early breast
cancer, however, histology based intra-operative assessment of the SLN status has a low …
cancer, however, histology based intra-operative assessment of the SLN status has a low …
EGFR, KRAS, BRAF and HER2 testing in metastatic lung adenocarcinoma: Value of testing on samples with poor specimen adequacy and analysis of discrepancies
…, C Guilaubey, M Cottier, J Beal, A Clemenson… - Experimental and …, 2017 - Elsevier
Molecular testing on metastatic lung adenocarcinoma or on non-small cell non-squamous
lung carcinoma often relies on small specimen. In this group of patient with poor specimen …
lung carcinoma often relies on small specimen. In this group of patient with poor specimen …
WHO grading system for invasive pulmonary lung adenocarcinoma reveals distinct molecular signature: an analysis from the cancer genome atlas database
…, D Laville, V Da Cruz, F Casteillo, A Clemenson… - Experimental and …, 2022 - Elsevier
Lung adenocarcinoma grading has gained interest in the past years. Recently a three-tier
tumor grading was proposed showing that it is related to patients' prognosis. Nevertheless, the …
tumor grading was proposed showing that it is related to patients' prognosis. Nevertheless, the …