Results 161 to 170 of about 104,643 (290)

Genetic analysis of children with suspected immunodeficiency: mimickers of inborn errors of immunity. [PDF]

Eur J Pediatr
Yılmaz SY, Külhaş Çelik İ, Marzioğlu Özdemir E, Artaç H.   +3 more
europepmc   +1 more source

Which liver-disease patients need a transplant? [PDF]

, 1988
Gordon, RD, Iwatsuki, S, Kahn, D, Klintmalm, G, Koneru, B, Makowka, L, Marsh, JW, Sher, L, Starzl, TE, Staschak, S, Stieber, A, Todo, S, Tzakis, AG, Van Thiel, D   +13 more
core  

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Comprehensive assessment of allergic manifestations including drug hypersensitivity in adult patients with inborn errors of immunity. [PDF]

Allergy Asthma Proc
Korkmaz P, Toprak ID, Demir S, Yegit OO, Kahveci N, Hormet Igde M, Celik Kamaci S, Aslan AF, Atasever MD, Eyice Karabacak D, Sezgin ME, Guzel SE, Kaya E, Erden B, Kilinc Z, Imren Aksit IG, Bolek L, Unal D, Gelincik A.   +18 more
europepmc   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Global research landscape of inborn errors of immunity: a bibliometric analysis (1991-2025). [PDF]

Orphanet J Rare Dis
Wu Q, Gao J, Yuan Y, Yang H, Fu Q.
europepmc   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Building alliances for early detection of immunodeficiencies: from primary care to hematology. [PDF]

Front Immunol
Rivière JG, Pasquet M, Gambineri E.
europepmc   +1 more source

Neuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health‐Related Quality of Life and Neurologic Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) and the clinically related Noonan syndrome with multiple lentigines (NSML) belong to the group of RASopathies. Although pain is not mentioned as a characteristic feature, it has recently been reported as a clinically significant problem.
Jos M. T. Draaisma, Wesley Reintjes, Erika Leenders, Fieke Draaisma, Melanie Burgers, Lotte Kleimeier, Marco Tartaglia, Merel Klaassens, Ruud Becks, Steven Renes, Ellen Wingbermühle, Nicol C. Voermans, Nens van Alfen   +12 more
wiley   +1 more source

Gastroenterological disorders in inborn errors of immunity. Part 1. Epidemiology, classification, symptoms, diagnosis, and treatment. [PDF]

Prz Gastroenterol
Napiórkowska-Baran K, Treichel P, Koperska K, Kudrej O, Mućka N, Rajewska A, Wawrzeńczyk A, Bartuzi Z.   +7 more
europepmc   +1 more source