Results 121 to 130 of about 125,822 (294)

Chromosomal abnormalities in 163 Tunisian couples with recurrent miscarriages

, 2017
Recurrent miscarriage (RM) is defined as three or more consecutive pregnancy losses before 24 weeks of gestation. Parental chromosomal abnormalities represent an important etiology of RM.
Ayed, Wiem, Guermani, Helmy, Chemkhi, Imen, Obay, Rim, Messaoudi, Islem, Belghith, Zouhour, Hammami, Wajih, Amouri, Ahlem, Abidli, Nabila   +8 more
core   +1 more source

Therapeutic Outcomes in VEXAS Syndrome: A Multicenter Comparative Cohort of Allogeneic Hematopoietic Stem Cell Transplantation and Hypomethylating Agents

American Journal of Hematology, EarlyView.
Key findings of therapeutic outcomes from a multi‐center cohort of VEXAS patients. ABSTRACT Hypomethylating agents (HMA) and allogeneic hematopoietic stem cell transplantation (alloHSCT) have both demonstrated remissions in VEXAS; however, comparative data is lacking.
Saubia Fathima, Margaret Mei‐Kay Wong, Jesus Gonzalez‐Lugo, Susan M. Geyer, Ali Alsugair, Maria Sirenko, Kimberly J. Langer, Terra L. Lasho, Christy Finke, Jun Choi, Maher Abdul‐Hay, Gary Ho, Mark R. Litzow, Aasiya Matin, Urshila Durani, Mehrdad Hefazi, William J. Hogan, Mithun V. Shah, Aref Al‐Kali, Kebede H. Begna, Naseema Gangat, Antoine N. Saliba, Ronald S. Go, Tariq Kewan, Gabriel Bartoo, Jade Kutzke, Kristen McCullough, Kenneth J. Warrington, Megan Sullivan, Kaaren K. Reichard, Horatiu Olteanu, Hemant Murthy, Talha Badar, Yael Kusne, Jeanne Palmer, Saurabh Chhabra, Nathan Punwani, Mary Riwes, Joseph P. McGuirk, Elizabeth F. Krakow, Amelia Langston, Taxiarchis Kourelis, David Dingli, James Foran, Matthew J. Koster, Mrinal M. Patnaik, David B. Beck, Hassan B. Alkhateeb, Abhishek A. Mangaonkar   +48 more
wiley   +1 more source

Remote Language Assessment in School‐Age Children With Phelan–McDermid Syndrome and Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT People with Phelan–McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school‐aged children with PMS, identifying genetic contributions to language and ...
Sarah Quadri‐Valverde, Jessica Klusek, Linda D. Ward, Diana Ivankovic, Nancy Powers, Vijay Shankar, Rachel A. Lyman, Trudy F. C. Mackay, William Bridges, Katy Phelan, Curtis Rogers, Luigi Boccuto, Sara M. Sarasua   +12 more
wiley   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Association of Fetal and Parental Chromosomal Abnormalities with Congenital Anomalies

, 2013
: Background & Aims: Chromosome abnormalities are a major cause of miscarriage and neonatal mortality. The present study aimed to determine the association of fetal and parents chromosomal abnormalities with congenital anomalies.
Bazr Afshan M.R., Ph.D., Mirzaie F., M.D., Darvish M., M.D., Fal,
core  

Rare chromosomal abnormalities: can they be identified using conventional first trimester combined screening methods?

, 2023
Objective: To evaluate the performance of first trimester combined screening for the detection of rare chromosomal abnormalities, other than Trisomies 21, 18 or 13 or 45 × . Study design: A database containing 36,254 pregnancies was analyzed.
Daniel Kane (10045733), Fergal Malone (7895477), Mary E D'Alton (17001597)   +2 more
core  

Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Benign hyperphenylalaninemia (bHPA) is defined as elevated phenylalanine (Phe) levels remaining ≤ 360 μmol/L (6 mg/dL) and not requiring medical intervention. Individuals with bHPA may demonstrate a rise in their Phe levels > 360 μmol/L, effectively developing a mild PKU phenotype requiring therapy to prevent neurocognitive complications. This
Aaron Williams, Kristian Divin, Lindsay C. Burrage, William J. Craigen, Fernando Scaglia, Claudia Soler‐Alfonso, V. Reid Sutton, Kevin E. Glinton, Ronit Marom   +8 more
wiley   +1 more source

Incidence of malignancy and clonal chromosomal abnormalities in Fanconi anemia

, 2011
Background: Fanconi anemia (FA) is an autosomal recessive, cancer susceptibility disorder characterized by diverse clinical features, such as short stature, skeletal or skin abnormalities, progressive bone marrow (BM) failure, and increased risk of ...
Korgaonkar, S., Ghosh, K., Vundinti, B. R.   +2 more
core   +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