Results 71 to 80 of about 126,489 (248)

Prenatal diagnosis of a de novo Y/22 translocation. [PDF]

, 1978
M. Verjaal, P.E. Treffers, Y Nagal, N. J. Leschot   +3 more
openalex   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Identification of important genes related to ferroptosis in early missed abortion based on WGCNA

Scientific Reports
Early missed abortion is defined as a pregnancy of ≤ 12 weeks in which there is a cessation of life in the developing embryo or fetus, leading to its retention within the uterine cavity without being spontaneously expelled promptly.
Yulu Zeng, Jiayi Gan, Jinlian Cheng, Changqiang Wei, Xiangyun Zhu, Shisi Wei, Lihong Pang   +6 more
doaj   +1 more source

Prenatal Diagnosis of Galactosaemia [PDF]

, 1974
Anthony H. Fensom, P. F. Benson, S. Blunt   +2 more
openalex   +1 more source

Maternal Sirolimus Treatment Reverses Cardiac Rhabdomyoma‐Induced Hydrops Fetalis in a Twin Gestation With Tuberous Sclerosis Complex

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardiac rhabdomyomas are often the presenting sign of tuberous sclerosis complex (TSC). Prior reports have shown that maternal sirolimus treatment can reduce rhabdomyomas. We used maternal sirolimus to reverse hydrops fetalis due to a massive cardiac rhabdomyoma in a twin gestation.
David M. Ritter, Kristin Schneider, Nkiru Ezeakudo, Darcy A. Krueger, Tomoyuki Mizuno, Timothy K. Knilans, David N. Franz   +6 more
wiley   +1 more source

Relation of Beta to Gamma Synthesis During the First Trimester: An Approach to Prenatal Diagnosis of Thalassemia [PDF]

, 1974
Gabriel Cividalli, David G. Nathan, Yuet Wai Kan, Bernardo A.G. Santamarina, Fredric D. Frigoletto   +4 more
openalex   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Prenatal Diagnosis of the Mucopolysaccharidoses by a Chemical Method [PDF]

, 1970
Reuben Matalon, Cecil B. Jacobson, Albert Dorfman, Joseph P. Kennedy   +3 more
openalex   +1 more source

Genotype–Phenotype Correlation in TTC7A‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff, Hans Christian Schmidt, Matthias Hans Belau, Johanna Hagens, Mario Lange, Daniel Tegtmeyer, Konrad Reinshagen, Frederike Leonie Harms, Christian Tomuschat   +8 more
wiley   +1 more source

Prenatal Diagnosis of Genetic Disease [PDF]

, 1978

openalex   +1 more source