Results 51 to 60 of about 1,157,477 (291)

A novel six3 mutation segregates with holoprosencephaly in a large family [PDF]

, 2009
Holoprosencephaly is the most common structural malformation of the forebrain in humans and has a complex etiology including chromosomal aberrations, single gene mutations and environmental components.
Abecasis, Barkovich, Bendavid, Bendavid, Brown, Cohen, Del Bene, Domené, Dubourg, Dubourg, El-Jaick, Geng, Gestri, Granadino, Gripp, Inbal, Kawakami, Kobayashi, Kobayashi, Kong, Kruglyak, Lagutin, Lazaro, Leoncini, Liu, Matsunaga, Ming, Ming, Muenke, Muenke, Nanni, O'Connell, Oliver, Pasquier, Pasquier, Ribeiro, Roessler, Roessler, Schell, Thiele, Wallis   +40 more
core   +2 more sources

Pulmonary Dysfunction Is Associated With Sleep Study Abnormalities in Children With Sickle Cell Disease: A Multicenter Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Pulmonary dysfunction and sleep abnormalities are common in children with sickle cell disease (SCD) and are associated with worse clinical outcomes. Whether spirometry abnormalities are associated with polysomnography (PSG) findings remains unclear.
Ammar Saadoon Alishlash, Anis Rabbani Nourani, A. K. M. Fazlur Rahman, Dima Ezmigna, Tarig Ali‐Dinar   +4 more
wiley   +1 more source

Coronavirus Infection in Children

Asian Pacific Journal of Environment and Cancer, 2020
SARS-COV-2 is a highly contagious anthroponotic infection. The relevance of the study of the disease is due to the wide prevalence of the pandemic worldwide to the extent that it affects all age groups and populations, the lack of long-term and intense ...
Bannova Svetlana Leonidovna, Puzyrev Viktor Gennadievich   +1 more
doaj   +1 more source

The Fate (Outcome) of Clinically Apparent Single Lesion and Oligofocal Nephroblastomatosis Treated According to SIOP/GPOH Protocols for Wilms Tumor

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background The management of clinically apparent single lesions or oligofocal nephroblastomatosis, a facultative precursor of nephroblastoma, remains debated. Methods We retrospectively analyzed 37 patients with clinically apparent single or oligofocal nephroblastomatosis (two to three lesions per kidney) among 2347 patients registered between
Nils Welter, Jens‐Peter Schenk, Jenny Wegert, Manfred Gessler, Leo Kager, Stefan Wagenpfeil, Marina Müller, Jean‐Michel Wolff, Joerg Fuchs, Steven W. Warmann, Clemens‐Magnus Meier, Jochen Hubertus, Christian Rübe, Christian Vokuhl, Patrick Melchior, Lena Tschirner, Norbert Graf, Rhoikos Furtwängler   +17 more
wiley   +1 more source

Clinical manifestations of Apert syndrome

Clinical Case Reports, 2023
Apert syndrome presents similarly to the one we presented in this image, and a genetic study is used for confirmation. This image shows the typical findings of physical examination, so that if this appears in the outpatient department, the diagnosis of ...
Qaisar Ali Khan, Christopher Farkouh, Muhammad Uzair, Bikona Ghosh   +3 more
doaj   +1 more source

Clinical Manifestations [PDF]

, 2013
The incubation period after infection of Influenza A(H1N1) is usually 1–7 days, being longer than common influenza and bird flu.
Hongjun, LI, Ning, LI
openaire   +1 more source

Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan, Lydie Da Costa, Ludivine David Nguyen, Heloise Chosseler, Audrey Riquet, Benedicte Bruno, Melissa Barbati   +6 more
wiley   +1 more source

Observation of experimental lathyrism in the rat [PDF]

, 1959
The clinical manifestations, roentgenologic studies, and histopathologic findings of the central nervous system of rats with induced lathyrism were described.
Lee, HUN Jae
core   +1 more source

The Role of Invasive Procedures in the Treatment of Complicated Gastrointestinal Graft‐Versus‐Host Disease in Pediatric Patients

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Gastrointestinal graft‐versus‐host disease (GI GVHD) following hematopoietic stem cell transplant is typically managed with medical therapy, but surgery and angioembolization may be warranted in selected cases with life‐threatening complications.
Gaia Brunetti, Giorgio Persano, Chiara Grimaldi, Pier Luigi Di Paolo, Carmen Malaspina, Francesco Quagliarella, Valerio Balassone, Anna Chiara Iolanda Contini, Gian Luigi Natali, Rita Alaggio, Ivan Pietro Aloi, Tamara Caldaro, Alessandro Crocoli   +12 more
wiley   +1 more source

Clinical Manifestations of Mpox Infection in HIV Patients: A Systematic Review and Meta-Analysis

Jurnal Penyakit Dalam Indonesia
Introduction. Mpox is a zoonotic disease caused by the mpox virus. Sexual intercourse is the biggest cause of mpox transmission. Human immunodeficiency virus (HIV) is a viral infection that is also transmitted mostly through sexual routes.
Gede Ari Mahendra Mardaningrat, Putu Arya Nugraha, Isabella Soerjanto Putri, Putu Hendri Aryadi   +3 more
doaj   +1 more source