Results 131 to 140 of about 46,284 (262)

Reply to Dolu, K.O. Comment on "Yorulmaz et al. Enhancing the Prediction of Inborn Errors of Immunity: Integrating Jeffrey Modell Foundation Criteria with Clinical Variables Using Machine Learning. <i>Children</i> 2025, <i>12</i>, 1259". [PDF]

Children (Basel)
Yorulmaz A, Şahin A, Sonmez G, Eldeniz FC, Gül Y, Karaselek MA, Güler ŞN, Keleş S, Reisli İ.   +8 more
europepmc   +1 more source

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

Reply to "The early history of the ESID registry". [PDF]

J Hum Immun
Seidel MG.
europepmc   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Cutaneous Manifestations of Inborn Errors of Immunity: Clinical Clues to Immune Disorders. [PDF]

Medicina (Kaunas)
Napiorkowska-Baran K, Pastuszczak M, Płocka-Karpińska M, Tykwińska M, Treichel P, Margossian GA, Margossian CL, Rogalska A, Czajkowski R.   +8 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

Pre-vaccination immune signatures of children with inborn errors of immunity associate with COVID-19 vaccine response. [PDF]

Hum Vaccin Immunother
Palma P, Emili E, Pighi C, Colantoni N, Morrocchi E, Pascucci GR, Rivalta B, Rotulo GA, Rossetti C, Santilli V, Zangari P, Manno EC, Sanna M, Finocchi A, Cancrini C, Cicalese MP, Cenciarelli S, Cirillo E, Giardino G, Moschese V, Amodio D, Cotugno N.   +21 more
europepmc   +1 more source

Spinal Involvement in a Pediatric and Adult Cohort of Patients With Arthrogryposis Multiplex Congenita

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This was a single‐center retrospective observational study with national recruitment from October 2007 to March 2022 at the AMC clinic of the University Hospital Grenoble Alpes (CHUGA). Participants underwent a clinical spinal assessment and spine radiography.
Alicia Mom, Véronique Bourg, Shenhao Dai, Alicia‐Marine Milot, Dominic Perennou, Klaus Dieterich   +5 more
wiley   +1 more source

Inborn errors [PDF]

Bone Marrow Transplantation, 2000
openaire   +3 more sources

Resolution of PML after Treatment with Virus-Specific T Cells and HCT. [PDF]

N Engl J Med
Gonzalez CE, Fletcher A, Jenkins TL, Zahraeifard S, Peterson R, Taylor M, Jones C, Urban A, Avila D, Campillay M, Wilhelm J, Soldatos A, Kuhle J, Jain P, Corey S, Bergerson JRE, Reich DS, Highfill S, Stroncek D, Dinh A, Pittaluga S, Kong HH, Su HC, Notarangelo LD, Pai SY, Grimley M, Freeman AF, Cortese I.   +27 more
europepmc   +1 more source