Results 91 to 100 of about 14,149 (242)

Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b

, 2014
Pseudohypoparathyroidism (PHP) is caused by reduced expression of genes within the GNAS cluster, resulting in parathormone resistance. The cluster contains multiple imprinted transcripts, including the stimulatory G protein α subunit (Gs-α) and NESP55 ...
Mackay, Deborah J.G., Poole, Rebecca L., Prescott, Trine, Rezwan, Faisal I., Temple, I. Karen, Walker, Joanna M.   +5 more
core   +1 more source

The consequences of nuclear transfer for mammalian foetal development and offspring survival : a mitochondrial DNA perspective [PDF]

, 2004
Review of the articleThe introduction of nuclear transfer (NT) and other technologies that involve embryo reconstruction require us to reinvestigate patterns of mitochondrial DNA (mtDNA) transmission, transcription and replication.
Anderson, Barrientos, Barrientos, Barritt, Barritt, Birky, Birky, Blok, Boiani, Bortvin, Boulet, Brenner, Campbell, Cibelli, Clark, Clayton, Cohen, Cormier, Cummins, Davis, Do, Dunbar, Evans, Fisher, Gaertig, Gahan, Giles, Goto, Gyllensten, Hauswirth, Hayakawa, Hiendleder, Hoeh, Holt, Howell, Hsieh, Huo, Inoue, Jansen, Jenuth, Kaneda, Kaukonen, King, King, Laipis, Larsson, Larsson, Lazzari, Magnusson, Maher, Mandel, Marchington, Michaels, Moraes, Moyes, Pik  , Poulton, Poulton, Reik, Reynier, Saada, Schon, Schutz, Schwartz, Shi, Shitara, Shoffner, Smith, St. John, Steinborn, Steinborn, Sutovsky, Takeda, Takeda, Torroni, Van Blerkom, Van Blerkom, Van Goethem, Wakayama, Wallace, Zhang   +80 more
core   +1 more source

Diagnosis and management of the phenotypic spectrum of twins with Beckwith‐Wiedemann syndrome

American Journal of Medical Genetics. Part A, 2019
Beckwith‐Wiedemann syndrome (BWS) is an overgrowth disorder with a heterogeneous phenotypic spectrum. There is an increased prevalence of monozygotic twinning in BWS.
Jennifer L. Cohen, K. Duffy, Brian J. Sajorda, Evan R Hathaway, Christina X Gonzalez-Gandolfi, Jennifer Richards-Yutz, Andrew T Gunter, A. Ganguly, J. Kaplan, M. Deardorff, J. Kalish   +10 more
semanticscholar   +1 more source

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 502-510, February 2026.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

Placental Mesenchymal Dysplasia: Ultrasound Characteristics and Diagnostic Pitfalls

Ultrasound International Open, 2020
Introduction Placental mesenchymal dysplasia (PMD) is a rare, benign developmental anomaly with a reported prevalence of 0.02% (Arizawa and Nakayama, 2002).
Alexandros Psarris, Michail Sindos, Ploutarchos Kourtis, Andreas Pampanos, Panagiotis Antsaklis, Marianna Theodora, Maria Eleni Chondrogianni, Georgios Morphopoulos, Dimitrios Loutradis, Georgios Daskalakis   +9 more
doaj   +1 more source

Clonal Composition of Human Adrenocortical Neoplasms [PDF]

, 1994
The mechanisms of tumorigenesis of adrenocortical neoplasms are still not understood. Tumor formation may be the result of spontaneous transformation of adrenocortical cells by somatic mutations.
Abdelhamid, S., Allolio, B., Beuschlein, Felix, Chrousos, G. P., Jaursch-Hancke, C., Karl, M., Reincke, Martin, Travis, W.   +7 more
core  

Cardiofaciocutaneous Syndrome Type 4 due to a MAP2K2 Variant: Expanding the Phenotypic Spectrum With Feeding Dysfunction and Neurodevelopmental Involvement

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT We report a female infant with cardiofaciocutaneous syndrome type 4 (CFC4), an ultra‐rare RASopathy caused by a heterozygous MAP2K2 (c.619G>A, p.Glu207Lys) variant. From birth, she presented with neonatal hypotonia, respiratory distress, and feeding dysfunction characterized by absent sucking reflex, orofacial hypotonia, and sensory ...
Aleksandra Świeca, Małgorzata Rydzanicz, Rafal Ploski, Krzysztof Szczałuba   +3 more
wiley   +1 more source

Safety and Efficacy of Nephron‐Sparing Surgery in Bilateral Wilms Tumors: A Systematic Review and Meta‐Analysis

Health Science Reports, Volume 9, Issue 1, January 2026.
ABSTRACT Background and Aims Bilateral Wilms tumor (BWT) presents a significant challenge in pediatric oncology, necessitating a delicate balance between achieving oncological control and preserving renal function. While nephron‐sparing surgery (NSS) has emerged as a promising alternative to radical nephrectomy, its overall safety and efficacy profile ...
Menna Sarhan, Yasmine Adel Mohammed, Ayah Abdulgadir, Ibrahim Moqbel, Yehia Nabil Abdalla, Salma Allam, Ahmad Alkheder, Khaled Alsayed Abualkhair   +7 more
wiley   +1 more source

No evidence for oncogenic mutations in guanine nucleotide-binding proteins of human adrenocortical neoplasms [PDF]

, 1933
G-Proteins are membrane-bound heterotrimeric polypeptides that couple receptor signals to second messenger systems such as cAMP. Recently, point mutations at 2 codons of the highly preserved alpha-chain of Gs, the adenyl cyclase-stimulating G-protein ...
Chrousos, G. P., Karl, M., Reincke, Martin, Travis, W.   +3 more
core  

Beckwith–Wiedemann syndrome in diverse populations

American Journal of Medical Genetics. Part A, 2019
Beckwith–Wiedemann syndrome (BWS) is the most common epigenetic overgrowth disorder and presents with patients affected by a variety of clinical features.
K. Duffy, Brian J. Sajorda, Alice C Yu, Evan R Hathaway, Katheryn L. Grand, M. Deardorff, J. Kalish   +6 more
semanticscholar   +1 more source