Results 51 to 60 of about 114,297 (258)

Hereditary non-polyposis colorectal carcinoma (HNPCC) : morphological and immunohistochemical studies [PDF]

, 2005
Includes bibliographical references.Families with hereditary non-polyposis colorectal carcinoma (HNPCC) are not uncommon along the West-Coast of South Africa.
Holm, Hannes
core   +1 more source

Auslander algebras as quasi-hereditary algebras [PDF]

, 1989
Dlab V, Ringel CM. Auslander algebras as quasi-hereditary algebras. Journal of the London Mathematical Society : Ser. 2.
Dlab, Vlastimil, Ringel, Claus Michael
core  

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Complications of delayed diagnosis and challenges: successfully managed SPTB gene variant hereditary spherocytosis with hepatocellular jaundice—a case report

Journal of Medical Case Reports
Background Hereditary spherocytosis is a rare genetic disorder of the red blood cell membrane that is characterized by anemia, jaundice, and splenomegaly; however, in the absence of family history and with unusual clinical presentation, the diagnosis ...
Sintayehu Mekonnen, Dereje Adefris, Belete Shikuro, Abdi Bati, Daniel Azmeraw, Temesegen Kassa, Eliud Teshome, Hawi Farris   +7 more
doaj   +1 more source

The Diagnosis and Prenatal Management of Non‐RHD Alloimmunizations

Prenatal Diagnosis, EarlyView.
ABSTRACT Red blood cell (RBC) alloimmunization remains a relevant cause of hemolytic disease of the fetus and newborn (HDFN). Although RhD immunization has significantly decreased since the implementation of systematic prophylaxis, it is still the main cause of alloimmunization in pregnancy.
Mar Bennasar, Antoni Borrell
wiley   +1 more source

Identification of a novel ANK1 mutation in hereditary spherocytosis co‐existing with BWS

Molecular Genetics & Genomic Medicine, 2022
Background Beckwith–Wiedemann syndrome (BWS) is an inherited disorder affecting 1 in 10,500 to 13,700 newborns worldwide. The disease is caused in a vast majority of patients by a molecular defect in the imprinted chromosome 11p15.5.
Qinghua Zhang, Chuan Zhang, Yupei Wang, Shengjv Hao, Jingyun Shi, Xuan Feng, Lei Zheng, Xin Wang, Chen Xue, Bingbo Zhou, Furong Liu, Fangping Zhao, Xuetao Li, Liangyuan Deng, Jun Hou, Zhaoyan Meng   +15 more
doaj   +1 more source

Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy [PDF]

, 2012
Background Leber’s hereditary optic neuropathy (LHON) is a maternally inherited blinding disorder, which in over 90% of cases is due to one of three primary mitochondrial DNA (mtDNA) point mutations (m.11778G>A, m.3460G>A and m.14484T>C, respectively ...
Baharak Hooshiar Kashani, Valentino, M. (M) L. (L), Bernd Wissinger, Sascha Fauser (144944), Dollfus, Helene, Valerio Carelli (24588), Barboni P., Helene Dollfus, Pizza, F. (F), Fauser Sascha, De Negri AM, Wissinger B., Chiara La Morgia, Chiara La Morgia (24595), Procaccio P, Piero Barboni, Fabio Pizza, Dollfus H., Valerio Carelli, Achilli, A., Liguori R., Dollfus H, Carelli, Valerio, Zeviani M, Torroni, Antonio, Barboni, P. (P), Rocco Liguori, Hooshiar Kashani, Baharak, P. Barboni, De Negri A. M., B. Leo-Kottler, Hooshiar Kashani Baharak, Amati-Bonneau Patrizia, Luisa Iommarini (144907), Vincent Procaccio, Massimo Zeviani (81459), Achilli, A. (A), Sadun, F., A. Achilli, Ducos Ghislaine, Wissinger, Bernd, Achilli A., Zeviani Massimo, Bonneau, D. (D), Christophe Orssaud, Massimo Zeviani, Maria Lucia Valentino, La Morgia C, Patrizia Amati-Bonneau (144951), Dollfus Helene, Maria Lucia Valentino (144915), Torroni, A., Maria Pala, Reynier, Pascal, Leo-Kottler Beate, La Morgia C., Iommarini Luisa, Amati-Bonneau, P. (P), Pizza F, Achilli Alessandro, Reynier, P. (P), Pizza, Fabio, Ducos, G. (G), Olivieri, A. (A), Procaccio V., Iommarini L., Hooshiar Kashani B., Valentino ML, C. Orssaud, Procaccio, Vincent, Leo-Kottler B., Torroni Antonio, Moulignier A., Liguori, R. (R), Zeviani, Massimo, Carelli Valerio, Orssaud, Christophe, Hooshiar Kashani, B. (B), Leo Kottler B, Liguori, Rocco, De Negri, A. (A) M. (M), Antoine Moulignier, Barboni P, Piero Barboni (24591), Dominique Bonneau, Wissinger, B. (B), Pala, M. (M), P. Reynier, P. Amati-Bonneau, A. Olivieri, M. Zeviani, Pizza F., C. La Morgia, Federico Sadun (144922), S. Fauser, Barboni, Piero, Orssaud, C. (C), Pala, Maria, Sadun, Federico, Baharak Hooshiar Kashani (144912), Moulignier, Antoine, Fauser, S. (S), Anna Maria De Negri, F. Pizza, Antonio Torroni, Fabio Pizza (144919), Sadun F, Bonneau D, Barboni, P., R. Liguori, Fauser, S., Valentino, M., Amati-Bonneau, Patrizia, Dominique Bonneau (144939), Pascal Reynier (92729), De Negri, Anna Maria, Ghislaine Ducos (144931), H. Kashani, Moulignier A, Moulignier, A. (A), La Morgia, Chiara, Alessandro Achilli, Orssaud Christophe, Carelli, V. (V), Procaccio, V. (V), Fauser, Sascha, Beate Leo-Kottler (144941), Sadun, F. (F), De Negri Anna Maria, Reynier Pascal, Amati-Bonneau P., Federico Sadun, Vincent Procaccio (68193), Pala M., Carelli V., Helene Dollfus (144926), Pascal Reynier, La Morgia Chiara, Beate Leo-Kottler, F. Sadun, Sadun F., Fauser S, M. Pala, Anna Olivieri, Antonio Torroni (42164), Rocco Liguori (144916), H. Dollfus, Fauser S., Leo-Kottler, B., Maria Pala (144910), Olivieri Anna, Anna Olivieri (144908), Amati Bonneau P, de Negri, A., Ghislaine Ducos, Anna Maria De Negri (144924), Moulignier, A., Pala Maria, Luisa Iommarini, Kashani, Hooshiar, Liguori, R., Torroni A., Pala, M., Liguori R, D. Bonneau, Bonneau, Dominique, M.L. Valentino, A. Moulignier, Zeviani, M. (M), Ducos, Ghislaine, Olivieri A., Sascha Fauser, Olivieri, Anna, La Morgia, C. (C), Ducos, G., Antoine Moulignier (144928), Iommarini L, Orssaud C, Bonneau D., A.M. De Negri, Bernd Wissinger (24666), L. Iommarini, Leo-Kottler, Beate, Pizza, F., Valentino M. L., Reynier P, Barboni Piero, Ducos G, Olivieri, A., Ducos G., Bonneau Dominique, Iommarini, Luisa, Leo Kottler B., Reynier P., Orssaud C., Christophe Orssaud (144936), Amati Bonneau P., V. Carelli, V. Procaccio, Zeviani M., Valentino Maria Lucia, Sadun Federico, Dollfus, H. (Helene), Leo-Kottler, B. (B), Iommarini, L. (L), A. Torroni, Procaccio Vincent, B. Wissinger, Wissinger Bernd, Wissinger B, Torroni, A. (A), Achilli, Alessandro, Alessandro Achilli (42157), Liguori Rocco, Valentino, Maria Lucia, Patrizia Amati-Bonneau, Pizza Fabio, Moulignier Antoine, G. Ducos, Iommarini, L.   +219 more
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Diagnosis of Portal Hypertension: Advancing Towards Non‐Invasive Solutions

Portal Hypertension &Cirrhosis, EarlyView.
This review systematically summarizes a full spectrum of non‐invasive diagnostic approaches for portal hypertension (PH), including imaging modalities, elastography, serum biomarkers, composite scoring systems and endoscopic ultrasound‐guided portal pressure gradient (EUS‐PPG), and analyzes their performance across different liver disease etiologies ...
Lijia Yin, Huikuan Chu, Ling Yang
wiley   +1 more source

Perioperative management and anaesthetic considerations for adult patients with Gilbert’s syndrome and oral cancer: review and case report

Biotechnology & Biotechnological Equipment, 2019
Gilbert’s syndrome is the most common cause of hereditary hyperbilirubinemia and poses a clinical challenge for anaesthesiologists. The decreased activity of bilirubin uridine glucuronyl transferase can lead to toxicity for usual doses of most ...
Dochka Tzoneva, Evgeniy Aleksiev, Kalina Michova, Pavel Stanimirov   +3 more
doaj   +1 more source

Developmental, Genetic, Dietary, and Xenobiotic Influences on Neonatal Hyperbilirubinemia [PDF]

, 2017
Hyperbilirubinemia, caused by the accumulation of unconjugated bilirubin, is one of the most common clinical diagnoses in both premature and term newborns.
Mei-Fei Yueh, Robert H. Tukey, Chen, Shujuan, Shujuan Chen, Tukey, Robert H, Yueh, Mei-Fei, Nguyen, Nghia, Nghia Nguyen   +7 more
core   +1 more source