Results 111 to 120 of about 314,353 (261)

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Nanographene‐Based van der Waals Organic Framework With Permanent Porosity

Angewandte Chemie, EarlyView.
Unlocking record‐breaking porosity in a supramolecular organic framework (SOF). Through the strategic design of a C3‐symmetric nanographene, a robust supramolecular framework is achieved via exclusively weak van der Waals forces. This metal‐free scaffold reaches a benchmark BET surface area of 1108 m2 g−1 –the highest to date for this class–combining ...
Arturo Oró, Rubén Turo‐Cortés, Josefina Perles, José Sánchez Costa, Jesús M. Fernández‐García, Nazario Martín   +5 more
wiley   +2 more sources

Genetic Risk and High Burden of Depression and Suicide in the Maya‐Mestizo Population of Yucatán, México

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Major depression and suicide are critical public health concerns, particularly in underrepresented populations with unique genetic and sociocultural contexts. The Maya‐mestizo population presents the highest suicide rates in the country but remains understudied in psychiatric genetics. This study evaluated the association between three genetic
Marta Menjivar, Erandi Bravo, Margarita Rivera‐Balancan, Barbara Itzel Pena Espinoza   +3 more
wiley   +1 more source

π‐Extended COUPY Fluorophores for Targeted Near‐Infrared Fluorescence and Lifetime Imaging in Live Cells

Angewandte Chemie, EarlyView.
π‐Extended COUPY dyes, obtained by vinylogation of coumarin‐based COUPY scaffolds, shift absorption, and emission deep into the NIR region while preserving compactness and synthetic accessibility. These bright, photostable dyes enable live‐cell imaging, FLIM, and site‐specific peptide conjugation, offering a modular platform for targeted bioimaging and
Diego Abad‐Montero, Manel Bosch, Rodrigo Garcés‐Castellanos, Michael Q. Schottenhamel, Sergio Pedraza‐Arevalo, Alejandro Ibáñez‐Costa, Justo P. Castaño, Tania García‐Becerra, Elena Rebollo, Marta E. Alberto, Antonio Francés‐Monerris, Vicente Marchán   +11 more
wiley   +2 more sources

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Concurso EcoRide 2013

RevistArquis, 2013
Resumen Esta iniciativa, en modalidad de concurso de diseño, tuvo como premisa desarrollar una investigación en cuanto a materiales constructivos alternativos que propician la construcción real de módulos de aparcamiento para bicicletas de fácil ...
Soren Pessoa, Andrés Villalobos, Juan Pablo Moya, Greivin Tosso, Randall Vindas, Loriana Jiménez, Paula Castillo, Macarena Rolandi, Alonso Fuentes, Alejandro Castro Castro, Gerardo Víquez, Carlos Alves, Ana M. Blanco, Alejandra Gutierrez, Hans Hoepker, Karina Aguilar, Fabricio Mora, Adriana Stouvenel, Julissa Granados, Adriana Masís, Emanuel Ramírez, Alex Padilla   +21 more
doaj  

‘The Other Parent’: A Critical Policy Analysis of Fatherhood Discourses in the Australian Government's Paid Parental Leave Scheme

Australian Journal of Social Issues, EarlyView.
ABSTRACT The Australian paid parental leave (PPL) government scheme aims to support working parents through financial assistance and the promotion of gender equality in caregiving responsibilities. However, the scheme's implementation has been critiqued for its gendered design, which marginalises fathers and reinforces traditional gender roles.
Lily Lewington, Bernadette Sebar, Jessica Lee   +2 more
wiley   +1 more source