Results 191 to 200 of about 473,993 (259)

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autoinflammatory disorders (AIDs) are a clinically heterogeneous group of inborn errors of immunity primarily caused by dysregulation in the innate immune system. Clinical diagnosis is often challenging due to clinical heterogeneity and the overlapping phenotypes with other inborn errors of immunity and monogenic conditions that mimic AIDs ...
Vaishnavi Ashok Badiger, Periyasamy Radhakrishnan, Suma Balan, Anand P. Rao, Prajna Udupa, Karthik Vijay Nair, Bhagesh Hunakunti, Adarsh Pooradan Prasannakumar, Sanket Limaye, Huzail Gani Shaikh, Rohit Naik, Mahesh Janarthanan, Sudharshan Sridharan, Vishal Sondhi, Sheela Nampoothiri, Hitesh Shah, Sabrinath Mahadevan, Mahabaleshwar Mamadapur, Devang Pandya, Katta Mohan Girisha, Abhay Shivpuri, Amita Moirangthem, Jyothi Raghuram, Gandham Sri Lakshmi Bhavani, Sachin Jeevanagi, Girish Subramaniam, Amita Aggarwal, Anju Shukla, Dhanya Lakshmi Narayanan   +28 more
wiley   +1 more source

Erratum: Erratum: Pubertal development is unaffected in female <i>Mecp2</i> -heterozygous mice. [PDF]

MicroPubl Biol
europepmc   +1 more source

FLCN Multi-Exon Deletion in a Chihuahua With Renal Cysts and Nodular Dermatofibrosis. [PDF]

Anim Genet
Schneiter M, Selz J, Jonker J, Dettwiler M, Jagannathan V, Leeb T, Maina E.   +6 more
europepmc   +1 more source

Nontruncating <i>FRMD7</i> Variants Are More Penetrant than Truncating Variants in Heterozygous Female Carriers of Infantile Nystagmus. [PDF]

Ophthalmol Sci
Hunt C, Zevlaris L, Wong B, Maconachie GDE, Tu Z, Mahroo OA, Moosajee M, Michaelides M, Webster AR, Han J, Vasudevan P, Gottlob I, Markaki Y, Thomas MG.   +13 more
europepmc   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Two Novel Compound Heterozygous <i>CDH23</i> Mutations Underlying Non-Syndromic Hearing Loss. [PDF]

Int J Gen Med
Xu P, Liao Q, Lin Y, Zhao N, Li L.
europepmc   +1 more source

Delayed Recognition of Maternal G6PD Heterozygous Status Across Prenatal and Newborn Care Interfaces

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is the most common red blood cell enzymatic disorder worldwide. Although many heterozygotes are asymptomatic, affected neonates have an increased risk for hyperbilirubinemia and related complications.
Mona M. Makhamreh, Ramiah R. Vickers, Cheryl Mensah, Wanda Dosal, Jennifer R. McKinney, April D. Adams   +5 more
wiley   +1 more source

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas-Mexico Border. [PDF]

Clin Genet
Lanehart D, Gray M, Sierra R, Maldonado C, Brooks D, Dai H, Rahimtoola A, Magallan S, Rodriguez S, Gamez J, Rosenlund P, Mulukutla SN, Allegre A, Berry L, Lee B, Scott DA, Vuocolo B, Lalani SR.   +17 more
europepmc   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Evolution of hemoglobinopathy diagnosis over 30 years in southern Spain: impact of migration and laboratory screening strategies. [PDF]

Lab Med
Molina-Arrebola MA, Sánchez-Crespo A, Alarcón-Gallo AM, Porrino-Herrera C, Martínez-Carreras L, González-Oller C.   +5 more
europepmc   +1 more source