Results 71 to 80 of about 3,111 (197)

Clinical Insights Into Nabais Sá‐De Vries Syndrome due to a Novel SPOP Mutation: Neuromotor, Cognitive, Adaptive, Behavioral, and Neurovisual Features

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT Nabais Sá‐De Vries syndrome (NSDVS) is an extremely rare autosomal dominant disorder caused by SPOP mutations. To date, only 10 cases have been described presenting with intellectual disability, neurological signs and symptoms, and a variable association of dysmorphic features.
Jessica Galli, Erika Loi, Federica Zanardini, Giovanna Baldoni, Francesca Novara, Serena Panigada, Roberto Ciccone, Maria Rosa Cutrì, Alice Bertoletti, Lorenzo Pinelli, Elisa Fazzi   +10 more
wiley   +1 more source

Establishment of a human induced pluripotent stem cell line, KMUGMCi010-A, from a patient with X-linked Ohdo syndrome bearing missense mutation in the MED12 gene

Stem Cell Research
X-linkded Ohdo syndrome is characterized mainly by intellectual disability, delays in reaching development, feeding difficulties, thyroid dysfunction, and dysmorphic appearance with blepharophimosis, immobile mask-like face and bulbous nose. The X-linked
Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida   +3 more
doaj   +1 more source

Saethre-Chotzen syndrome : cranofacial anomalies caused by genetic changes in the TWIST gene [PDF]

, 2004
In this thesis, one of the most frequently occurring and most variable craniosynostosis syndromes was investigated; Saethre-Chotzen syndrome. Craniosynostosis is the premature obliteration of cranial sutures in the developing embryo. It can also occur in
Heer, I.M. (Inge Marieke) de
core   +1 more source

Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report

BMC Medical Genetics, 2018
Background Van Den Ende-Gupta Syndrome (VDEGS) is an extremely rare autosomal recessive syndrome with less than 20 reported families (approximately 40 patients) in the worldwide literature.
Mohammad M. Al-Qattan, Doaa F. Andejani, Nadia A. Sakati, Khushnooda Ramzan, Faiqa Imtiaz   +4 more
doaj   +1 more source

CRISPR targeting of FOXL2 c.402C>G mutation reduces malignant phenotype in granulosa tumor cells and identifies anti‐tumoral compounds

Molecular Oncology, Volume 19, Issue 4, Page 1092-1116, April 2025.
FOXL2 c.402C>G mutation drives granulosa cell tumors. Using CRISPR technology, we selectively corrected this mutation, reducing malignancy and increasing sensitivity to dasatinib and ketoconazole. Transcriptomic changes revealed potential therapeutic targets, demonstrating CRISPR's promise for treating this rare ovarian cancer.
Sandra Amarilla‐Quintana, Paloma Navarro, Iván Hernández, Alejandra Ramos, Ana Montero‐Calle, Pablo Cabezas‐Sainz, Maria J Barrero, Diego Megías, Borja Vilaplana‐Martí, Carolina Epifano, Déborah Gómez‐Dominguez, Sara Monzón, Isabel Cuesta, Laura Sánchez, Rodrigo Barderas, Jesús García‐Donas, Alberto Martín, Ignacio Pérez de Castro   +17 more
wiley   +1 more source

Genetic Consultations in Neuroophthalmology [PDF]

, 2017
The geneticist faced with severe neuroophthalmological conditions should not only establish the prognosis on the basis of probability laws, but also take into consideration the prevailing affective and social situation of these patients and their ...
Klein, D.
core  

The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome [PDF]

, 2021
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a craniofacial disorder caused by heterozygous variants of the forkhead box L2 (FOXL2) gene. It shows autosomal dominant inheritance but can also occur sporadically.
Bladen, JC, Moosajee, M, Méjécase, C, Nigam, C   +3 more
core  

Seven Novel Variants of Weiss‐Kruszka Syndrome and Phenotype Expansion

American Journal of Medical Genetics Part A, Volume 197, Issue 2, February 2025.
ABSTRACT Weiss‐Kruszka syndrome (WKS) is a rare genetic disorder characterized by metopic ridging, ptosis, arched eyebrows, down slanting palpebral fissures, abnormalities in the corpus callosum, cardiac malformations, and variable neurodevelopmental delay. To date, 32 individuals with a diagnosis of WKS have been reported in the literature.
Anna Hau, Anne Baxter, Kate Chandler, Andrew Fennell, Tzung‐Chien Hsieh, Peter M. Krawitz, Jason Pinner, Himanshu Goel   +7 more
wiley   +1 more source

Is Early Menopause a Different Entity From Premature Ovarian Insufficiency?

Clinical Endocrinology, Volume 102, Issue 1, Page 67-74, January 2025.
ABSTRACT Premature ovarian insufficiency (POI, defined as age at menopause < 40 years) affects 1%–3% of postmenopausal women. It is positively associated with an increased risk of diabetes mellitus, arterial hypertension, cardiovascular disease, osteoporosis, fractures, cognitive impairment, and depression.
Panagiotis Anagnostis, Irene Lambrinoudaki, Dimitrios G. Goulis   +2 more
wiley   +1 more source

Cytogenetics of Premature Ovarian Failure: An Investigation on 269 Affected Women [PDF]

, 2011
The importance of X chromosome in the aetiology of premature ovarian failure (POF) is well-known but in many cases POF still remains idiopathic. Chromosome aneuploidy increase is a physiological phenomenon related to aging, but the role of low-level sex
Angela Bentivegna, Anna Marozzi, Donatella Conconi, Elena Panzeri, Elena Sala, Emanuela Martinoli, Fabiana Saccheri, Francesca Crosti, Leda Dalprà, Marinella Volontè, Nicoletta Villa, Sara Lissoni, Serena Redaelli, Simona Baronchelli   +13 more
core   +3 more sources