Results 141 to 150 of about 7,423 (270)

A case of EEC syndrome.

Japanese Journal of Oral & Maxillofacial Surgery, 1995
ADACHI, Moriyasu, ITO, Yasuhiro, ISHIHARA, Akira, IWATA, Yasuyuki, FUKAYA, Masahiko   +4 more
openaire   +2 more sources

Two decades of resurrection studies: What have we learned about contemporary evolution of plant species?

American Journal of Botany, EarlyView.
Abstract Premise Global climate change has altered the eco‐evolutionary trajectories of plant species, leading to observed shifts in phenotypes, such as earlier flowering. However, disentangling the contributions of plasticity and adaptation to trait changes remains challenging.
Lillie K. Pennington, Seema N. Sheth, Steven J. Franks, Jill T. Anderson, Elena Hamann   +4 more
wiley   +1 more source

The psychosocial toll of Dublin III on asylum seekers in the Netherlands

American Journal of Community Psychology, EarlyView.
Abstract The Dublin III Regulation determines which EU Member State is responsible for examining asylum claims, but its implementation carries significant consequences for those subjected to it. This study examines how Dublin III, as implemented in the Netherlands, affects asylum seekers' psychosocial wellbeing using Silove′s Adaptation and Development
Imen El Amouri
wiley   +1 more source

Better 10‐Year Cerebrovascular Outcome After Transplant Than on Standard‐Care in Sickle Cell Anemia: DREPAGREFFE Trial

American Journal of Hematology, EarlyView.
ABSTRACT Management of cerebral vasculopathy in sickle cell anemia (SCA) includes standard‐care, that is, chronic transfusion (CT) or hydroxyurea, and hematopoietic cell transplantation (HCT). DREPAGREFFE‐1 (December 2010/June 2013), a French multicenter trial, was the first prospective trial comparing standard‐care to match sibling donor (MSD)‐HCT in ...
Francoise Bernaudin, Suzanne Verlhac, Elisabeth Ducros‐Miralles, Cécile Arnaud, Isabelle Genty, Marie Petras, Catherine Paillard, Gonzalo De Luna, Benoit Meunier, Isabelle Thuret, Annie Kamdem, Corinne Pondarré, Giovanna Cannas, Christelle Chantalat‐Auger, Nadia Firah, Sophie Pertuisel, Laure Joseph, Florence Missud, Mariane de Montalembert, Corinne Guitton, Claire Pluchart, Valentine Brousse, Monique Elmaleh, Vincent Gajdos, Emmanuella Leveillé, Ekaterina Belozertseva, Mabel Gaba, Catherine Poirot, Virginie Barraud‐Lange, Philippe Chadebech, France Pirenne, Myriam Bernaudin, Bénédicte Neven, Pierre Frange, Marie Angoso, Karima Yakouben, Bénédicte Bruno, Nathalie Dhédin, Jean‐Hugues Dalle, Regis Peffault Delatour, Camille Jung   +40 more
wiley   +1 more source

Management of Iron Overload in Infants and Toddlers With Diamond–Blackfan Anemia Syndrome: A French–Italian Study

American Journal of Hematology, EarlyView.
ABSTRACT Diamond–Blackfan Anemia Syndrome (DBAS) is a rare congenital anemia often requiring chronic red blood cell transfusions from infancy. Without appropriate chelation, iron overload develops early and may be severe; however, no data are available on chelation in patients under 3 years of age.
Francesca Torchio, Baptiste Lecalvez, Emanuela Garelli, Coralie Mallebranche, Adriana Carando, Marie‐Pierre Castex, Nathalie Garnier, Marco Zecca, Nathalie Aladjidi, Elisa Bertoni, Arthur Sterin, Maria Licciardello, Anne Sirvent, Antonella Sau, Isabelle Marie, Benedicte Bruno, Lydie M. Da Costa, Franca Fagioli, Paola Quarello, Thierry Leblanc   +19 more
wiley   +1 more source

Clinical and Laboratory Characterization of Acquired Von Willebrand Syndrome

American Journal of Hematology, EarlyView.
ABSTRACT Acquired von Willebrand Syndrome (AVWS) is a rare bleeding disorder characterized by quantitative or qualitative defects of von Willebrand factor (VWF) in patients without a personal or family history of bleeding. It is frequently associated with systemic diseases, particularly lymphoproliferative disorders (LPDs) and myeloproliferative ...
Alessandro Ciavarella, Luciano Baronciani, Omid Seidizadeh, Paola Colpani, Elio Ingenito, Daniele Cattaneo, Maria Teresa Pagliari, Addolorata Truma, Alessandra Iurlo, Simona Maria Siboni, Flora Peyvandi   +10 more
wiley   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source