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Journal Am J Med Genet A

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Sleep phenotype of individuals with autism spectrum disorder bearing mutations in the PER2 circadian rhythm gene.

Ny Hoang, Ryan K C Yuen, Jennifer Howe, Irene Drmic, Patricia Ambrozewicz, Carolyn Russell, Jacob Vorstman, Shelly K Weiss, Evdokia Anagnostou, Beth A Malow, Stephen W Scherer,

The Per family of genes functions as a primary circadian rhythm maintenance in the brain. Mutations in PER2 are associated with familial advanced sleep-phase syndrome 1 (FASPS1), and recently suggested in delayed sleep phase syndrome and idiopathic hypersomnia. The detection of PER2 variants in individuals with autism spectrum disorder (ASD) ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2021, :]

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Novel genetic testing model: A collaboration between genetic counselors and nephrology.

Louise Amlie-Wolf, Laura Baker, Olivia Hiddemen, Morgan Thomas, Christine Burke, Caroline Gluck, Joshua J Zaritsky, Karen W Gripp,

Many barriers to genetic testing currently exist which delay or prevent diagnosis. These barriers include wait times, staffing, education, and cost. Specialists are able to identify patients with disease that may need genetic testing, but lack the genetics support to facilitate that testing in the most cost, time, and medically ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2021, :]

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AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination.

Katharine Edgerley, Angela Barnicoat, Amaka C Offiah, Alistair D Calder, Kshitij Mankad, Nicholas Simon Thomas, David J Bunyan, Maggie Williams, Chris Buxton, Arniban Majumdar, Kayal Vijayakumar, Tom Hilliard, James Turner, Christine P Burren, Fergal Monsell, Sarah F Smithson,

Spondylometaphyseal dysplasia with cerebral hypomyelination (SMD-H) is a very rare but distinctive phenotype, unusually combining spondylometaphyseal dysplasia with hypomyelinating leukodystrophy. Recently, SMD-H has been associated with variants confined to a specific intra-genic locus involving Exon 7, suggesting that AIFM1 plays an important role in bone development and metabolism as well ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2021, :]

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Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans.

Yoel Gofin, Laura Palmer Mackay, Keren Machol, Sundeep Keswani, Lorraine Potocki, Eleonora Di Gregorio, Valeria Giorgia Naretto, Alfredo Brusco, Andres Hernandez-Garcia, Daryl A Scott,

Fibroblast growth factor receptor-like 1 (FGFRL1) encodes a transmembrane protein that is related to fibroblast growth factor receptors but lacks an intercellular tyrosine kinase domain. in vitro studies suggest that FGFRL1 inhibits cell proliferation and promotes cell differentiation and cell adhesion. Mice that lack FGFRL1 die shortly after birth from ... Read more >>

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[2021, :]

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Hyperinsulinism in an individual with an EP300 variant of Rubinstein-Taybi syndrome.

K Taylor Wild, Tomoki T Nomakuchi, Sarah E Sheppard, Karla F Leavens, Diva D De León, Elaine H Zackai,

Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant genetic syndrome characterized by distinct facial features, broad thumbs, growth restriction, microcephaly, intellectual disability, and developmental delay. Pathogenic variants in both CREBBP and EP300 have been associated with RSTS. Here we present a case of a female with hyperinsulinism and features consistent with ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2021, :]

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Liver transplant as a curative treatment in a pediatric patient with classic homocystinuria: A case report.

Stephanie P Kerkvliet, Michelle N Rheault, Susan A Berry,

We report a patient with homocystinuria and hyperoxaluria who was cured of homocystinuria-related disease following liver transplant. The patient was diagnosed with homocystinuria as a newborn and was treated with dietary modifications and supplements. At 22 months, he passed a calcium oxalate stone and was found to have numerous bilateral kidney ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2021, :]

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SCYL1 disease and liver transplantation diagnosed by reanalysis of exome sequencing and deletion/duplication analysis of SCYL1.

Vanda McNiven, Daniela Gattini, Iram Siddiqui, Stephane Pelletier, Herbert Brill, Yaron Avitzur, Saadet Mercimek-Andrews,

SCYL1 disease results from biallelic pathogenic variants in SCYL1. We report two new patients with severe hepatic phenotype requiring liver transplantation. Patient charts reviewed. DNA samples and skin fibroblasts were utilized. Literature was reviewed. 13-year-old boy and 9-year-old girl siblings had acute liver insufficiency and underwent living related donor liver ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2021, :]

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Expansion of NEUROD2 phenotypes to include developmental delay without seizures.

Emily K Mis, Annalisa G Sega, Rebecca H Signer, Tracy Cartwright, Weizhen Ji, Julian A Martinez-Agosto, Stanley F Nelson, Christina G S Palmer, Hane Lee, Thomas Mitzelfelt, Monica Konstantino, , Lauren Jeffries, Mustafa K Khokha, Elysa Marco, Martin G Martin, Saquib A Lakhani,

De novo heterozygous variants in the brain-specific transcription factor Neuronal Differentiation Factor 2 (NEUROD2) have been recently associated with early-onset epileptic encephalopathy and developmental delay. Here, we report an adolescent with developmental delay without seizures who was found to have a novel de novo heterozygous NEUROD2 missense variant, p.(Leu163Pro). Functional ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2021, :]

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Lessons from a 30 year follow-up of monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaicism in one of them.

Benjamin Chanes, Marta Arriaza, Yves Lacassie,

At the 43rd annual meeting of the ASHG in 1993, the senior author reported monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaic syndrome in one of them. Her major manifestations included: intrauterine growth restriction (IUGR), failure to thrive (FTT), delayed developmental milestones/intellectual disability (DDM/ID), left hemihypoplasia ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
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Craniofacial and occlusal features of children with Noonan syndrome.

Simone Bagattoni, Tommaso Costi, Giovanni D'Alessandro, Sara Toni, Maria Rosaria Gatto, Gabriela Piana,

Craniofacial features of 12 children with Noonan syndrome (NS) were compared with age and gender matched healthy children. Dental history, panoramic radiograph, dental casts, and cephalometric measurements were assessed. The palatal height was significantly increased in the study group compared with the control group (p = .009; paired t-test). The ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2021, :]

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MBD5-related intellectual disability in a Vietnamese child.

Thanh Nha Uyen Le, Thi Minh Thi Ha,

The disruption of methyl-binding domain protein 5 (MBD5) gene has been determined as a significant cause of a group of disorders known as MBD5-associated neurodevelopmental disorder. Here, we report a novel pathogenic mutation, NM_001378120.1 (MBD5): c.217-1G>C, occurring at the acceptor splicing site of intron 6 of the MBD5 gene identified ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2021, :]

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Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.

Maria Giovanna Tedesco, Fortunato Lonardo, Caterina Ceccarini, Carla Cesarano, Maria Cristina Digilio, Monia Magliozzi, Daniela Rogaia, Amedea Mencarelli, Chiara Leoni, Carmelo Piscopo, Valentina Imperatore, Maria Teresa Falco, Paolo Fontana, Anna Maria Nardone, Antonio Novelli, Stefania Troiani, Marco Seri, Paolo Prontera,

Feingold Syndrome type 1 (FS1) is an autosomal dominant disorder due to a loss of function mutations in the MYCN gene. FS1 is generally clinically characterized by mild learning disability, microcephaly, short palpebral fissures, short stature, brachymesophalangy, hypoplastic thumbs, as well as syndactyly of toes, variably associated with organ abnormalities, ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2021, :]

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41st Annual David W. Smith workshop on malformations and morphogenesis: Abstracts of the 2020 annual meeting.

Karen W Gripp, Kenneth Lyons Jones, Tara L Wenger, , Margaret P Adam,

The 41st Annual David W. Smith Workshop on Malformation and Morphogenesis was scheduled to take place in Skamania, Washington, on September 11-16, 2020. Due to the COVID-19 pandemic and the associated recommendations to avoid travel and congregation in large groups, this meeting took place differently from its original plan. Rather ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2021, :]

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Adult diagnosis of Townes-Brocks syndrome with renal failure: Two related cases and review of literature.

Olivia Beaudoux, Anne-Sophie Lebre, Martine Doco Fenzy, Marta Spodenkiewicz, Eric Canivet, Charlotte Colosio, Céline Poirsier,

Townes-Brocks syndrome (TBS) is a rare autosomal dominant syndrome, resulting from heterozygous variant in SALL1 gene and initially characterized by the triad of anorectal, thumb, and ear malformations. Essentially described in children, adult case reports are uncommon. Renal involvement has already been reported in adults and children but poorly described. ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2021, :]

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Aldosterone synthase (CYP11B2) deficiency among Palestinian infants: Three novel variants and genetic heterogeneity.

Yaniv Faingelernt, Eli Hershkovitz, Bassam Abu-Libdeh, Amal Abedrabbo, Sara Abu-Rmaileh Amro, Raz Zarivach, David Zangen, Eran Lavi, Alon Haim, Ruti Parvari, Abdulsalam Abu-Libdeh,

Aldosterone synthase deficiency (ASD) is a rare potentially life-threatening genetic disorder that usually presents during infancy due to pathogenic variants in the CYP11B2 gene. Knowledge about CYP11B2 variants in the Arab population is scarce. Here, we present and analyze five Palestinian patients and their different novel pathogenic variants. Data on ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2021, :]

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Can Waardenburg syndrome type 2 be explained by epigenetic mosaicism?

Rudolf Happle,

Am J Med Genet A (American journal of medical genetics. Part A)
[2021, :]

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Human disease genes website series: An international, open and dynamic library for up-to-date clinical information.

Alexander J M Dingemans, Diante E Stremmelaar, Lisenka E L M Vissers, Sandra Jansen, Maria J Nabais Sá, Angela van Remortele, Noraly Jonis, Kim Truijen, Sam van de Ven, Jeroen Ewals, Michel Verbruggen, David A Koolen, Han G Brunner, Evan E Eichler, Jozef Gecz, Bert B A de Vries,

Since the introduction of next-generation sequencing, an increasing number of disorders have been discovered to have genetic etiology. To address diverse clinical questions and coordinate research activities that arise with the identification of these rare disorders, we developed the Human Disease Genes website series (HDG website series): an international digital ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2021, :]

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Cancer surveillance in children with Ollier Disease and Maffucci Syndrome.

Manuel Diezi, Pierre-Yves Zambelli, Andrea Superti-Furga, Sheila Unger, Raffaele Renella,

Am J Med Genet A (American journal of medical genetics. Part A)
[2021, :]

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Genotype-phenotype correlation in GNB1-related neurodevelopmental disorder: Potential association of p.Leu95Pro with cleft palate.

Lisa A Lansdon, Carol J Saunders,

Am J Med Genet A (American journal of medical genetics. Part A)
[2021, :]

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Novel FOXP1 pathogenic variants in two Indian subjects with syndromic intellectual disability.

Amita Moirangthem, Shubha R Phadke,

We describe two unrelated Indian boys with Mental retardation with language impairment with or without autistic features (OMIM#613670). Novel pathogenic variants c. 593_599 delins AGAAG and c.1556T>C in FOXP1 were identified in Patients 1 and 2, respectively by exome sequencing. The patients shared the cardinal features of significant language impairment, ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2021, :]

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First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel ACBD5 variant: A case report and review of literature.

Michelle Bartlett, Nima Nasiri, Rena Pressman, Guney Bademci, Irman Forghani,

Peroxisomes play an essential role in lipid metabolism via interaction with other intracellular organelles. The information about the role of the Acyl-CoA-binding domain containing-protein 5 (ACBD5) in these interactions in human cells is emerging. Moreover, a few patients with retinal dystrophy and leukodystrophy caused by pathogenic variants in ACBD5 have ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2021, :]

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Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study.

Andrea Gangfuß, Gökhan Yigit, Janine Altmüller, Peter Nürnberg, Johanna Christina Czeschik, Bernd Wollnik, Nina Bögershausen, Peter Burfeind, Dagmar Wieczorek, Frank Kaiser, Andreas Roos, Heike Kölbel, Ulrike Schara-Schmidt, Alma Kuechler,

Intellectual disability (ID) has an estimated prevalence of 1.5%-2%. Whole exome sequencing (WES) studies have identified a multitude of novel causative gene defects and have shown that sporadic ID cases result from de novo mutations in genes associated with ID. Here, we report on a 10-year-old girl, who has been ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2021, :]

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Phenotypic spectrum associated with pathogenic mutation in the NRG1 gene in Acadian family.

Liane Bourcier, Nicolas Crapoulet, Rodney J Ouellette, Mathieu Mallet, Mouna Ben Amor,

NRG1 is a gene that encodes for a protein that binds to a receptor of the tyrosine kinase family which is essential for the survival of the central nervous system development during embryogenesis. Mutation of the NRG1 gene causes aganglionosis, which leads to Hirschsprung disease. Two brothers of Acadian descent ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2021, :]

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Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.

Joanna Walczak-Sztulpa, Anna Wawrocka, Małgorzata Stańczyk, Karolina Pesz, Lech Dudarewicz, Sławomir Chrul, Ewelina Bukowska-Olech, Nina Wieczorek-Cichecka, Heleen H Arts, Machteld M Oud, Robert Śmigiel, Ryszard Grenda, Ewa Obersztyn, Krystyna H Chrzanowska, Anna Latos-Bieleńska,

Cranioectodermal dysplasia (CED) is a rare autosomal recessive disorder primarily characterized by craniofacial, skeletal, and ectodermal abnormalities. CED is a chondrodysplasia, which is part of a spectrum of clinically and genetically heterogeneous diseases that result from disruptions in cilia. Pathogenic variants in genes encoding components of the ciliary transport machinery ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2021, :]

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Clinical diagnosis of neurofibromatosis type I in multiple family members due to cosegregation of a unique balanced translocation with disruption of the NF1 locus: Testing considerations for accurate diagnosis.

Rebecca B Smith, Emily P Solem, Emma C Metz, Ferrin C Wheeler, John A Phillips, Ashwini Yenamandra,

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that causes a predisposition to develop tumors along the peripheral nervous system. The NF1 gene, located at 17q11.2, has the highest mutation rate among known human genes and about half of NF1 patients have de novo pathogenic variants. We present a ... Read more >>

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