Results 191 to 200 of about 260,440 (253)

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

It Takes 2 (Repeats) to Lose TANGO2. [PDF]

Neurol Genet
Brutman JN, Hendricks NE, Valdmanis PN.
europepmc   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Case Report: A <i>de novo NSD2</i> multiple exon deletion variant in a child with Rauch-Steindl syndrome. [PDF]

Front Pediatr
Li C, Xie M, Peng Q, Lu X, Zhong B.
europepmc   +1 more source

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

Three novel concomitant NTRK2 fusions in medullary thyroid carcinoma with diagnostic implications. [PDF]

Discov Oncol
Chu J, Zhao N, Yu Q, Qin L, Zhang D.
europepmc   +1 more source

An in vivo parallelized reporter assay to uncover tissue-specific splicing regulatory sequences in a multicellular animal. [PDF]

Nucleic Acids Res
Bhatnagar S, Ho J, Sadek NH, Singh I, Zoberman M, Koterniak B, Liu Y, Fusca DD, Cutter AD, Moses AM, Calarco JA.   +10 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

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

Reciprocal regulation of fibroblast-macrophage equilibrium governs skin integrity. [PDF]

Nat Immunol
Vollmers AC, Wu SZ, Altieri A, McCartney EE, Bender H, Davidson CD, Lee WP, Zhang J, Hu C, Jeet S, Hall B, Irizarry-Caro RA, Guarnieri A, Santosa EK, Preston J, Uttarwar S, Vander Heiden JA, Chung Y, Ortiz W, Long M, Asuncion R, Yang YA, Jiang JX, Modrusan Z, Chintalacharuvu S, Moussion C, Krishnamurty AT, Fu W, Müller S, Buechler MB, Turley SJ.   +30 more
europepmc   +1 more source