Results 211 to 220 of about 145,893 (342)

Phase II study of the triple combination of rabbit ATG, ciclosporin and eltrombopag in patients with transfusion‐dependent aplastic anaemia: West Japan Hematology Study Group (W‐JHS) AA02 trial

British Journal of Haematology, EarlyView.
Summary The efficacy of a triple combination of rabbit anti‐human thymocyte immunoglobulin (rATG), ciclosporin and eltrombopag (EPAG) was prospectively evaluated in patients with severe or transfusion‐dependent non‐severe aplastic anaemia (SAA) across 29 institutions in Japan. Sixty patients were enrolled, of whom 48 had SAA. The primary end‐point, the
Fumi Nakamura, Ken Ishiyama, Ritsuro Suzuki, Hiroyuki Maruyama, Yasushi Onishi, Kensuke Usuki, Hideo Koh, Katsuto Takenaka, Ryunosuke Saiki, Seishi Ogawa, Kana Matsumoto, Takuto Takahashi, Kazuyoshi Hosomichi, Yoshitaka Zaimoku, Kenichi Yoshimura, Itaru Matsumura, Koichi Akashi, Shinji Nakao   +17 more
wiley   +1 more source

Unilateral Thyroid Hypoplasia in a Euthyroid Adult: A Rare Congenital Anomaly. [PDF]

Cureus
Butt N, Ausama Khan A, Mirza DN.
europepmc   +1 more source

A study of cartilage development in pulmonary hypoplasia [PDF]

, 1989
恭子 伊東
openalex  

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

Clinical Genetics, EarlyView.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, Khadijé Jizi, Marie‐Ange Delrue, Patricia Egerszegi, Isabelle Thiffault, Philippe M. Campeau   +7 more
wiley   +1 more source

Sentinel Nystagmus: The Key to Identifying Type II Oculocutaneous Albinism (OCA2) in the Pediatric Setting. [PDF]

Case Rep Pediatr
Niknam J, Petrosyan A, Agustin V, Shoubaki A.   +3 more
europepmc   +1 more source

A Novel Homozygous Nonsense Pathogenic Variant of the CPAMD8 Gene Associated With Congenital Microcoria

Clinical Genetics, EarlyView.
A novel CPAMD8 nonsense mutation c.2679C>G (p.Tyr893*) was identified in a patient with congenital microcoria, leading to reduced mRNA expression and predicted protein truncation. ABSTRACT Congenital microcoria (MCOR) is a rare inherited ocular disorder. Here, we describe a novel nonsense variant in the CPAMD8 gene in a patient with MCOR.
Jing‐Fan Gao, Xin Jin, Jing‐Rao Wang, Shu Wang, Hong Zhang   +4 more
wiley   +1 more source

Bilateral hypoplasia of the intracranial internal carotid arteries: A case report and literature review. [PDF]

Medicine (Baltimore)
Fu W, Zhang C, Liang Y, Deng D.
europepmc   +1 more source

Hypoplasia [PDF]

, 2020
openaire   +1 more source

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Clinical Genetics, EarlyView.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Shiri Gershon, Jonathan Rips, Hagit Daum, Chaggai Rosenbluh, Orly Elpeleg, Vardiella Meiner, Ayala Frumkin, Hagar Mor‐Shaked, Tamar Harel   +13 more
wiley   +1 more source

Hydrops, Arthrogryposis, and Cerebellar Hypoplasia in a Fetus With a de Novo BICD2 Variant: Expanding the Prenatal Phenotype of SMALED2B. [PDF]

Prenat Diagn
Lepri FR, Graziani L, Menale L, Viggiano M, Bucci R, Gentile A, Caforio L, Novelli A.   +7 more
europepmc   +1 more source