Results 91 to 100 of about 349,129 (310)

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

Incidence of Type-1 Retinopathy of Prematurity in Premature Babies Born Small for Gestational Age

, 2013
Purpose: To compare the incidence of type retinopathy of prematurity (ROP) in patients small for gestational age (SGA) and in patients appropriate for gestational age (AGA) in a developing country. Material and Method: We included in this study infants
Deniz Anuk İnce, Gürsel Yılmaz, İmren Akkoyun   +2 more
core   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Ultrasonography Guided Gestational Age Estimation Using Transcerebellar Diameter in Third Trimester Pregnancy

Journal of Nobel Medical College
Background: The correct estimation of gestational age is of great importance for managing pregnancy. Determining gestational age by the first-trimester scan is considered the gold standard, but classical calculation from the last menstrual period is also
Sandeep Acharya, Saurav Poudel, Bivusha Parajuli, Pratibha Kaphle   +3 more
doaj   +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

Crude and adjusted analyses of risk of large-for-gestational-age, total cesarean section and operative vaginal delivery, by GDM-criteria.

, 2023
Crude and adjusted analyses of risk of large-for-gestational-age, total cesarean section and operative vaginal delivery, by GDM-criteria.
Line Sletner (292376), Signe Nilssen Stafne (5089160), Are Hugo Pripp (7356923), Nina Cecilie Øverby (11410151), Linda Reme Sagedal (4621729), Anam Shakil Rai (16503263), Anne Karen Jenum (9535089), Elisabeth Qvigstad (398475)   +7 more
core   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Human placental growth hormone is increased in maternal serum at 20 weeks of gestation in pregnancies with large-for-gestational-age babies

, 2017
To investigate the relationship between maternal serum concentrations of placental growth hormone (GH-V), insulin-like growth factor (IGF)-1 and 2, IGF binding proteins (IGFBP)-1 and 3 and birth weight in appropriate-for-gestational-age (AGA), large-for ...
Beatrix Jones (3696325), Mark H. Vickers (6899263), Shutan Liao (3696328), Jo K. Perry (3696319), Rennae S. Taylor (7739246), Rennae S. Taylor (441619), Mhoyra Fraser (3696322), Lesley M. E. McCowan (441617), Lesley M. E. McCowan (7710743), Mark H. Vickers (214355), Philip N. Baker (338976)   +10 more
core   +2 more sources

Parental Right to Determine Whether to Use Aggressive Treatment for an Early Gestational Age Infant: The Messenger Case

, 1997
Manslaughter charges were brought against Dr. Gregory Messenger, a Michigan (USA) dermatologist, for removing his extremely premature infant son from a ventilator in the neonatal intensive care unit.
Paris, John J.
core  

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source