Results 201 to 210 of about 1,606,043 (303)

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source

Characteristic Findings of Infants with Transient Elevation of Acylcarnitines in Neonatal Screening and Neonatal Weight Loss. [PDF]

Int J Neonatal Screen
Morishima S, Shimada Y, Watanabe Y, Ihara K.   +3 more
europepmc   +1 more source

TTC21B: From Modifier to Causative Gene in Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri, Fulvio D'Abrusco, Anna Pichiecchio, Thouraya Ben Younes, Ichraf Kraoua, Enza Maria Valente   +5 more
wiley   +1 more source

Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide. [PDF]

Int J Neonatal Screen
Kuypers AM, Bouva MJ, Loeber JG, Boelen A, Dekkers E, Petritis K, Pickens CA, The Isns Representatives, van Spronsen FJ, Heiner-Fokkema MR.   +9 more
europepmc   +1 more source

Reframing Trisomy 13 and 18 Care: Moving Beyond the Myth of “Incompatibility With Life” in a South African and Low‐and Middle‐Income Country Context

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13 (T13) and trisomy 18 (T18) have historically been described as “lethal” or “incompatible with life,” contributing to diagnosis‐based limitations of care. Contemporary evidence demonstrates greater heterogeneity in survival and outcomes than previously recognized, including among selected children receiving intensive care or cardiac ...
H. L. Malherbe, M. Araujo, L. Balimba, J. A. Joshi, P. Makhetha, M. Meiring, M. T. Mpe, D. Reddy, B. Shingwenyana, J. C. Carey   +9 more
wiley   +1 more source

Neonatal screening for congenital hypothyroidism: 28-year experience in the state of Minas Gerais, Brazil. [PDF]

J Pediatr (Rio J)
Braga NTP, Alves DPDSS, Colosimo EA, Dias VMA, Januário JN, Silva IN.   +5 more
europepmc   +1 more source

A Novel Homozygous Nonsense Variant in DCHS1 in a Brazilian Patient With Van Maldergem Syndrome Type 1: Clinical Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Van Maldergem syndrome (VMLDS) is an ultra‐rare autosomal recessive disorder characterized by craniofacial dysmorphism, intellectual disability, hypotonia, skeletal anomalies, and feeding difficulties. It is caused by biallelic variants in DCHS1 or FAT4 genes.
Gabriela Roldão Correia‐Costa, Bruna Fagundes Rodrigues Alaite, Vera Lúcia Gil‐da‐Silva‐Lopes, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

Diagnosis of glutaric aciduria type I based on neuroradiological findings: when neonatal screening fails. [PDF]

Ital J Pediatr
Gragnaniello V, Puma A, Gueraldi D, D'Errico I, Cazzorla C, Loro C, Porcù E, Salviati L, Burlina AB.   +8 more
europepmc   +1 more source

Influence of Molecular Genetic Classes on Behavior in Prader‐Willi Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A wide range of behavioral phenotypes has been described in PWS patients including autism spectrum disorder (ASD). The prevalence of behavioral disorders was studied in 292 participants over 3 years with genetically confirmed PWS (N = 164 females and N = 128 males) with deletion (N = 182) and mUPD (maternal uniparental disomy) (N = 99).
Ranim Mahmoud, Merlin G. Butler, Wai Park, Jennifer L. Miller, Daniel J. Driscoll, June‐Anne Gold, Virginia Kimonis   +6 more
wiley   +1 more source

Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi, Céline Louveau, Bertrand Diebold, Natacha Gaitch, Arnaud Hubas, Martine Gautier Vallee, Jérôme Champ, Anais L'Haridon, Sophie Georgin Lavialle, Boris Chaumette, Thierry Bienvenu   +10 more
wiley   +1 more source