Results 181 to 190 of about 314,865 (313)

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Revisiting the Link Between Factor XII and Recurrent Pregnancy Loss: A Scoping Review. [PDF]

Am J Reprod Immunol
Bundgaard E, Pedersen MK, Bor P, Bor MV.
europepmc   +1 more source

Early Pregnancy Does Not Reduce the C50 of Propofol for Loss of Consciousness

, 2001
Hideyuki Higuchi, Yushi Adachi, Shinya Arimura, Masuyuki Kanno, Tetsuo Satoh   +4 more
openalex   +1 more source

Spontaneous loss of early pregnancy and risk of ischaemic heart disease in later life: retrospective cohort study [PDF]

, 2003
Gordon C. S. Smith
openalex   +1 more source

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher, Orli Greenberg, Patrick Shannon, Andrea Staines, Bobbi McGivern, Melanie Patricia Napier, David Chitayat   +6 more
wiley   +1 more source

Constructing a logistic regression-based prediction model for subsequent early pregnancy loss in women with pregnancy loss. [PDF]

Eur J Med Res
Ding N, Wang P, Wang X, Wang F.
europepmc   +1 more source

Measurement of inhibin A and inhibin pro-αC in early human pregnancy and their role in the prediction of pregnancy outcome in patients with recurrent pregnancy loss [PDF]

, 2003
Majedah Al‐Azemi, William J. Ledger, Michael Diejomaoh, Mohamed Shaaban Mousa, Maʼasoumah Makhseed, Alexander E. Omu   +5 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

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

Hysteroscopic Confirmation of a Uterine Arteriovenous Malformation as a Possible Cause of Recurrent Pregnancy Loss. [PDF]

Case Rep Obstet Gynecol
Reyftmann L, Kothari D, Power M.
europepmc   +1 more source