Results 271 to 280 of about 445,017 (386)

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

Leveraging Sarcopenia index by automated CT body composition analysis for pan cancer prognostic stratification. [PDF]

NPJ Digit Med
Borys K, Haubold J, Keyl J, Bali MA, De Angelis R, Boni KB, Coquelet N, Kohnke J, Baldini G, Kroll L, Schramm S, Stang A, Malamutmann E, Kleesiek J, Kim M, Kasper S, Siveke JT, Wiesweg M, Merkel-Jens A, Schaarschmidt BM, Gruenwald V, Bauer S, Oezcelik A, Bölükbas S, Herrmann K, Kimmig R, Lang S, Treckmann J, Stuschke M, Hadaschik B, Umutlu L, Forsting M, Schadendorf D, Friedrich CM, Schuler M, Hosch R, Nensa F.   +36 more
europepmc   +1 more source

PREDICTION OF ANEMIA ON UNENHANCED COMPUTED TOMOGRAPHY OF THE THORAX.

, 2017
Punnya Raj Kumar, Ravi Chandra. G
openalex   +1 more source

A Case Report of Esophageal Perforation into the Right Thorax with Advanced Esophageal Cancer Caused by Vomiting.

, 1996
Osamu Chino, Hiroyasu Makuuchi, Kyouichi Mizutani, Takao Machimura, Hideo Shimada, Kouji Kanno, Tetsuji Sasaki, Tomoo Tajima, T Mitomi, Teruchi Sugita   +9 more
openalex   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

New species of <i>Papuanatula</i> Lugo-Ortiz & McCafferty, 1999 from New Guinea (Ephemeroptera, Baetidae) with focus on Batanta Island. [PDF]

Zookeys
Kaltenbach T, Kovács T, Gattolliat JL.
europepmc   +1 more source

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz   +6 more
wiley   +1 more source

Improving accuracy in percutaneous lung puncture using thoracic respiratory synchronization and laser angle guidance. [PDF]

Front Med Technol
Yang Q, Li Q, Lv S, Lan L, Wang M, Han K.   +5 more
europepmc   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Reports of <i>Lipoptena fortisetosa</i> on dogs and in the environment, and evidence of its widespread establishment in Hungary. [PDF]

Int J Parasitol Parasites Wildl
Tóth AG, Bende A, Hornok S, Wagenhoffer Z, Szulyovszky B, Galla V, Vöröskői P, Keve G.   +7 more
europepmc   +1 more source