Results 161 to 170 of about 581,861 (308)

Has Paget's bone disease become rare?

Joint Bone Spine, 2019
Laëtitia, Michou, Philippe, Orcel
openaire   +3 more sources

Magnetic Resonance Imaging as a Complementary Diagnostic Tool for Aplastic Anemia

American Journal of Hematology, EarlyView.
Jeanette Walter, Peter Isfort, Susanne Isfort, Jens Panse, Katharina Lindemann‐Docter, Tim H. Brümmendorf, Fabian Beier   +6 more
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Hemophagocytic Macrophages in the Peripheral Blood of a Critically Ill Patient With COVID‐19 and RSV Infection

American Journal of Hematology, EarlyView.
Ashik Zala, Ahmed Sadek, Ahmed Elsaid, Ketan C. Patel, Maximiliano Ramia De Cap, Barbara J. Bain   +5 more
wiley   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Dentomaxillofacial abnormalities associated with rare bone disease in two pediatric populations from southern Europe and East Africa. [PDF]

Orphanet J Rare Dis
Brunet-Llobet L, Mashala EI, Lapitskaya A, Rabassa-Blanco J, Rocha-Eiroa MD, Miranda-Rius J.   +5 more
europepmc   +1 more source

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cantú syndrome (CS) is a rare genetic condition caused by pathogenic variants in either ABCC9 or KCNJ8, leading to gain‐of‐function of KATP‐channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investigates the voice characteristics in individuals with CS, an aspect that has received little ...
Lotte Kleinendorst, Melanie N. S. Molegraaf, Dorothy K. Grange, Rico N. P. M. Rinkel, Mieke M. van Haelst   +4 more
wiley   +1 more source

Interfollicular Plasmacytosis and Hyperplastic Germinal Centers in Idiopathic Multicentric Castleman Disease, Idiopathic Plasmacytic Lymphadenopathy Subtype

American Journal of Hematology, EarlyView.
Stephanie Quon, Clarissa Skorupski, Christophe Langlois, Lee Mozessohn, Carlo Hojilla, Luke Y. C. Chen   +5 more
wiley   +1 more source

Transition Care for Young Persons with Rare Bone Mineral Conditions: A Consensus Recommendation from the ECTS Rare Bone Disease Action Group. [PDF]

Calcif Tissue Int
Grasemann C, Wernsmann J, Appelman-Dijkstra NM, Morgan C, Sylvest TT, Raimann A, Siggelkow H, Lems WF, Turan S, Zillikens MC, Wekre LL, Alves I, Solal MC, Yavropoulou MP, Clunie G.   +14 more
europepmc   +1 more source