Results 181 to 190 of about 63,582 (298)

Is hidradenitis suppurativa more an autoinfection than pure autoinflammation? [PDF]

Front Immunol
Delage M, Join-Lambert O, Miskinyte S, Hovnanian A, Nassif A.   +4 more
europepmc   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Clinical spectrum and survival outcomes of malignancies in pediatric patients with inborn errors of immunity. [PDF]

Front Immunol
Deveci Demirbas N, Haskologlu ZS, Baylan T, Islamoglu C, Kostel Bal S, Baskin K, Gul B, Aytekin C, Kaygusuz G, Kendirli T, Fitoz S, Incesoy Ozdemir S, Dincaslan H, Kuzu I, Tacyildiz N, Unal E, Dogu F, Ikinciogullari A.   +17 more
europepmc   +1 more source

Inborn Errors [PDF]

Bone Marrow Transplantation, 1999
openaire   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Genomic sequencing and the urgency of early diagnosis in inborn errors of metabolism. [PDF]

Pediatr Res
Wild KT, Pediatric Policy Council, Spinner NB.   +2 more
europepmc   +1 more source

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source

Celiac disease and developmental delay as the first manifestations of tripeptidyl peptidase 2 deficiency. [PDF]

Pediatr Allergy Immunol
Ates NK, Gumus DD, Ulkersoy I, Aydın M, Tin O, Kahveci E, Kepil N, Sengenc E, Quinn J, Yucel E, Kiykim A, Beser OF.   +11 more
europepmc   +1 more source

Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir, Karee Morgan, Karigynn Chaimson, Blake E. Funke, Kim L. Sandler, Melissa Hogan, Thomas Cassini   +6 more
wiley   +1 more source

Cobalamin C Deficiency Presenting with CVID-like Immunologic Abnormalities: A Five-Patient Pediatric Case Series. [PDF]

J Clin Immunol
He R, Liu J, Zhao S, Yang H.
europepmc   +1 more source