Results 71 to 80 of about 54,157 (345)

Familly with two different cases of post- and pre-natal L1 syndrome; When hydrocephaly become "multidisciplinary headache" [PDF]

, 2016
open11openBukvic, Nenad; Boaretto, Francesca; Loverro, Giuseppe; Susca, Francesco C.; Lovaglio, Rosaura; Patruno, Margherita; Bukvic, Dragoslav; Starcevic, Srdjan; Vazza, Giovanni; Mostaciuollo, Maria Luisa; Resta, NicolettaBukvic, Nenad; Boaretto ...
Boaretto, Francesca, Bukvic, Dragoslav, Bukvic, Nenad, Lovaglio, Rosaura, Loverro, Giuseppe, Mostaciuollo, Maria Luisa, Patruno, Margherita, Resta, Nicoletta, Starcevic, Srdjan, Susca, Francesco C., Vazza, Giovanni   +10 more
core   +1 more source

Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity [PDF]

, 2021
Leila Youssefian, Amir Hossein Saeidian, Fahimeh Palizban, Atefeh Bagherieh, Fahimeh Abdollahimajd, Soheila Sotoudeh, Nikoo Mozafari, Rahele A. Farahani, Hamidreza Mahmoudi, Sadegh Babashah, Masoud Zabihi, Sirous Zeinali, Paolo Fortina, Julio C. Salas‐Alanís, Andrew P. South, Hassan Vahidnezhad, Jouni Uitto   +16 more
openalex   +1 more source

Small RNA pathways in mammalian oocytes

FEBS Open Bio, EarlyView.
Three distinct small RNA pathways operate in mammalian oocytes: RNAi interference (RNAi), the microRNA (miRNA) pathway, and the PIWI‐associated RNA (piRNA) pathway. These pathways use small RNAs to guide sequence‐specific repression and contribute to oocyte biology by targeting genes and mobile elements or appear insignificant since different ...
Petr Svoboda, Josef Pasulka
wiley   +1 more source

Histoires d’identité (génétique)

Bulletins et Mémoires de la Société d’Anthropologie de Paris, 2009
This note takes a historical perspective on the concept of genetic identity states between four alleles of two individuals. Several definitions of these states were proposed between 1940 and 1970, and states were diversely merged according to the authors.
Anne-Louise Leutenegger, Pierre Darlu
doaj   +1 more source

Genome-wide analysis of runs of homozygosity in Pakistani controls with no history of speech or language-related developmental phenotypes

Annals of Human Biology, 2023
Background Runs of homozygosity (ROHs) analysis of controls provide a convenient resource to minimize the association of false positive results of disease-associated ROHs and genetic variants for simple and complex disorders in individuals from the same ...
Tahira Yasmin, Erin M. Andres, Komal Ashraf, Muhammad Asim Raza Basra, Muhammad Hashim Raza   +4 more
doaj   +1 more source

The quest for a donor: probability based methods offer help [PDF]

, 2005
When a patient in need of a stem cell transplant has no compatible donor within his or her closest family, and no matched unrelated donor can be found, a remaining option is to search within the patient’s extended family. This situation often arises when
Bosnes, V., Braaten, O., Cowell, R., Egeland, T., Mostad, P. F.   +4 more
core  

Risk factors and demographics for microtia in South America: a case-control analysis [PDF]

, 2013
BACKGROUND: The etiopathogenesis of microtia is still unknown in the majority of the cases, particularly for individuals presenting with isolated microtia.
Castilla, Eduardo Enrique, Dutra, Maria da Graça, Luquetti, Daniela, López Camelo, Jorge Santiago, Saltzman, Babette S.   +4 more
core   +1 more source

Consanguinity and Apnea of Prematurity [PDF]

American Journal of Epidemiology, 2003
Consanguinity, marriage between relatives, has been associated with perinatal mortality and morbidity. Apnea of prematurity is defined as the cessation of breathing for longer than 20 seconds or that of any duration if accompanied by cyanosis and sinus bradycardia, for infants born before 37 weeks of gestation. The objective of the study was to examine
Hala, Tamim, Mustafa, Khogali, Hind, Beydoun, Imad, Melki, Khalid, Yunis   +4 more
openaire   +2 more sources

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Bedouin Children With Celiac Disease: Less Symptoms but More Severe Histological Features at Presentation

Frontiers in Pediatrics, 2020
Background: The prevalence of celiac disease (CD) has dramatically increased with wide variability in clinical presentations between different geographical areas.
Baruch Yerushalmi, Sergei Vosko, Galina Ling, Ronit Raanan, Daniel L. Cohen, Haim Shirin, Tzipora Shalem, Shay Matalon, Efrat Broide, Efrat Broide   +9 more
doaj   +1 more source