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Academic Journal

Infantile and Very Early Onset Inflammatory Bowel Disease: A Multicenter Study.

Authors : Guz-Mark, Anat; Aloi, Marina; Scarallo, Luca

Subjects: INFLAMMATORY bowel disease diagnosis; CROHN'S disease diagnosis; ULCERATIVE colitis diagnosis

Source: Pediatrics. Aug2024, Vol. 154 Issue 2, p1-10. 10p.

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Academic Journal

Cerebrotendinous Xanthomatosis, a Treatable Disorder Often Missed: Case Series of Three Patients Confirmed by Genetic Testing.

Authors : Yaqoob, Arjimand¹ (AUTHOR); Dar, Waseem¹ (AUTHOR); Raina, Adnan¹ (AUTHOR)

Subjects: *GENETIC testing; *SYMPTOMS; *MAGNETIC resonance imaging

Source: Neurology India. Jan/Feb2024, Vol. 72 Issue 1, p138-141. 4p.

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Academic Journal

CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder.

Authors : Annunziata, Silvia; Bulgheroni, Sara; D'Arrigo, Stefano

Subjects: DIAGNOSIS of autism; GENETICS of autism; NUCLEIC acid hybridization

Source: Journal of Autism & Developmental Disorders. Feb2023, Vol. 53 Issue 2, p615-623. 9p. 1 Chart, 1 Graph.

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Academic Journal

A chorea-acanthocytosis patient with novel mutations in the VPS13A gene without acanthocyte.

Authors : Jin, Shan (AUTHOR); Sun, Zhengzhe (AUTHOR); Fang, Xiang (AUTHOR)

Subjects: MOVEMENT disorders; GENETIC testing; GENETIC mutation

Source: Neurological Sciences. May2024, Vol. 45 Issue 5, p2057-2061. 5p.

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Academic Journal

Hyperhidrosis as the initial symptom in FUS mutation-associated amyotrophic lateral sclerosis: a case report and comprehensive literature review.

Authors : Chen, Xuan (AUTHOR); Luo, Jing (AUTHOR); Zheng, Wei (AUTHOR)

Subjects: HYPERHIDROSIS; AMYOTROPHIC lateral sclerosis; LITERATURE reviews

Source: Neurological Sciences. Apr2024, Vol. 45 Issue 4, p1523-1527. 5p.

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Academic Journal

Evaluation of the value of genetic testing for cystinuria in the Danish population of English bulldogs.

Authors : Fitzwilliams, Therese¹ (AUTHOR); Wolff‐Sneedorff, Julie L.² (AUTHOR); Fredholm, Merete² (AUTHOR)

Subjects: *BULLDOG; *GENETIC testing; *MISSENSE mutation

Source: Animal Genetics. Aug2023, Vol. 54 Issue 4, p566-569. 4p.

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Academic Journal

Diagnostic workup of rhabdomyolysis: Genetic testing should precede neurophysiological testing.

Authors : Voermans, Nicol C.¹ (AUTHOR) ; Bhai, Salman^2,3 (AUTHOR); Laforet, Pascal⁴ (AUTHOR)

Subjects: *GENETIC testing; *RHABDOMYOLYSIS; *LSD (Drug)

Source: Muscle & Nerve. Jul2024, p1. 4p. 2 Illustrations.

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Academic Journal

Clinical manifestations of Johanson-Blizzard syndrome in a patient with nucleotide variants in the UBR1 gene.

Authors : Jojkić-Pavkov, Danijela; Tošić, Jela; Kavečan, Ivana

Subjects: SYMPTOMS; GENETIC variation; UBIQUITIN ligases

Source: Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia. Oct2023, Vol. 88 Issue 10, p885-889. 5p.

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Academic Journal

Clinical manifestations and genetic analysis of a family with neurofibromatosis type 2.

Authors : Wang, Victoria Y. (AUTHOR); Liu, Te-Yi (AUTHOR); Fang, Te-Yung (AUTHOR)

Subjects: TINNITUS; GENETICS; GENETIC mutation

Source: Acta Oto-Laryngologica. Jan 2022, Vol. 142 Issue 1, p36-42. 7p.

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Academic Journal

A nationwide epidemiologic, clinical, genetic study of Usher syndrome in Japan.

Authors : Yoshimura, Hidekane (AUTHOR); Nishio, Shin-ya (AUTHOR); Isaka, Yuichi (AUTHOR)

Subjects: HOSPITALS; SOCIAL support; DEAFNESSJAPAN

Source: Acta Oto-Laryngologica. Sep 2021, Vol. 141 Issue 9, p841-846. 6p.

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