Results 181 to 190 of about 439,844 (312)

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

Becoming a Father [PDF]

Journal of General Internal Medicine, 2010
openaire   +2 more sources

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

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Effects of an early childhood father engagement program in Rohingya camps and host community in Cox's Bazar, Bangladesh: a cluster randomized controlled trial. [PDF]

BMC Glob Public Health
Iqbal Y, Yoshikawa H, Michael D, Bolisetty S, Yesmin S, Mian AU, Nyeu MT, Lee S, Bowden AB, Schwartz K, Chisim K, Ali ARMM, Chowdhury SS, Alam A, Behrman JR.   +14 more
europepmc   +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

Father and Sibling Involvement in Home Rehabilitation: Longitudinal Effects on Infant Development and Maternal Wellbeing in Bulawayo, Zimbabwe. [PDF]

Child Care Health Dev
Madzimbe P, Maart S, Dambi J, Corten L.
europepmc   +1 more source

Father Kemp and his old folks : A history of the folks' concerts,

"Sacred and secular pieces sung by Father Kemp's old folks": p.
Kemp, Father, 1820-1897.
core  

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

Prevalence and impact of parental alienating behaviors (PABs) in adults aged 18-25 in the United Kingdom. [PDF]

Front Public Health
Hine BA, Harman JJ, Leder-Elder S, Bates EA.   +3 more
europepmc   +1 more source