Results 231 to 240 of about 316,216 (289)

Management of pregnancy in a woman with a new diagnosis of pycnodysostosis: A case report. [PDF]

Case Rep Womens Health
Finnie E, Ayuk P.
europepmc   +1 more source

Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature

Clinical Genetics, EarlyView.
The authors present a novel case and review of individuals with GINS1 deficiency, causing severe growth restriction and combined immunodeficiency. Only the ninth case of this ultrarare disorder, it highlights the role of these variants in disease, glaucoma as a feature, and the possibility of immunodeficiency without infections in affected individuals.
Michael P. Mackley, Rae Brager, Hannah Geddie, Vicky Breakey, Rebecca Hough, Dimitrios J. Stavropoulos, Vanda McNiven   +6 more
wiley   +1 more source

A retrospective analysis of real-world height outcomes of growth hormone treatment in Syrian children. [PDF]

BMC Endocr Disord
Al-Hawasli H, Chawa M, Younis B.
europepmc   +1 more source

Studies on the femur : 3. the effects of maceration and drying in the white and negro [PDF]

, 2009
Ingalls, N. William
core  

Non‐Isolated Dandy‐Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions

Clinical Genetics, EarlyView.
Exome sequencing identified a diagnosis in 35% of 91 individuals with non‐isolated Dandy Walker malformation (DWM+). Only 24%–55% of these diagnoses could be made using a gene panel. We then demonstrated that DWM is a feature of disorders associated with ANKRD11, C2CD3, COL4A1, KMT2D, KRAS, OPHN1, SHOC2, SMARCB1, and WDR73.
Sarah Araji, Xiaonan Zhao, Jill A. Rosenfeld, Seema R. Lalani, Daryl A. Scott   +4 more
wiley   +1 more source

EndoCompass Project: Research Roadmap for Growth Disorders.

Horm Res Paediatr
Gevers EF, Hokken-Koelega AC, Tauber M, Binder G, Bochukova EG, Bouret SG, Caixàs A, Davies JH, Dauber A, Edouard T, Eggermann T, Giabicani E, Netchine I, Nilsson O, Saravinovska K, van der Steen M, Tartaglia M, Tatton-Brown K, Temple IK, Yart A, Zenker M.   +20 more
europepmc   +1 more source

The role of GH/IGF-1 axis dysfunction and inflammatory cytokines in pediatric short stature. [PDF]

J Med Biochem
Yang Q, Chen S, Wu T, Peng J, Mao L.
europepmc   +1 more source

Functional Data Strengthen Clinical Validation of PhenoScore Phenotype‐Guided AI for ANKRD11 Missense Variants

Clinical Genetics, EarlyView.
PhenoScore, an AI framework integrating facial recognition and clinical phenotype data, accurately identifies pathogenic ANKRD11 missense variants associated with KBG syndrome (AUC 0.95). Validated against functional data, PhenoScore outperforms REVEL and complements AlphaMissense, providing objective phenotypic evidence to reduce variants of uncertain
Evi Andriessen, Elke de Boer, Gholson J. Lyon, Bert B. A. de Vries, Charlotte W. Ockeloen, Alexander J. M. Dingemans   +5 more
wiley   +1 more source

ZMYND11 p.Arg600Trp variant associated with a distinctive neurodevelopmental phenotype. [PDF]

Hum Genome Var
Yoshimatsu H, Kido J, Sawada T, Sugawara K, Misumi Y, Hayashi Y, Fujita A, Matsumoto N, Ueda M, Nakamura K.   +9 more
europepmc   +1 more source

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency

Clinical Genetics, EarlyView.
We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig, Taciane Alegra, Leonardo Martinello da Rosa, Nataniel Floriano Ludwig, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz   +5 more
wiley   +1 more source