Oxford Index Browse

You are looking at 1-10 of 2,245 items for:

Clinical Genetics x clear all

Refine by subject

 

Refine by type

Refine by product

 

Aarskog Syndrome

Roger E. Stevenson, Charles E. Schwartz and R. Curtis Rogers.

in Atlas of X-Linked Intellectual Disability Syndromes

June 2012; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics. 835 words.

This chapter provides pictures and clinical details of AARSKOG SYNDROME

Go to »  abstract

The Abdomen and Perineum

William Reardon.

in The Bedside Dysmorphologist

October 2007; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Neonatology. 4168 words.

This chapter covers clinical signs relating to the abdomen and perineum (minor anomalies of the umbilicus, Umbilical Hernia/ Omphalocele, Inguinal Hernia, Small Penis/Micropenis, Ambiguous...

Go to »  abstract

The Abdomen and Perineum

William Reardon.

in The Bedside Dysmorphologist

October 2015; p ublished online September 2015 .

Chapter. Subjects: Clinical Genetics; Neonatology. 4676 words.

This is a clinical guide to common—and often quite subtle—congenital malformations in clinical exam. Organized by area of the body, each section provides the user with a concise,...

Go to »  abstract

Abetalipoproteinemia and Hypobetalipoproteinemia

Amanda J. Hooper and John R. Burnett.

in Inherited Metabolic Disease in Adults

July 2016; p ublished online September 2016 .

Chapter. Subjects: Clinical Genetics. 2545 words.

Abetalipoproteinemia and hypobetalipoproteinemia are characterized by marked hypocholesterolemia and are classified depending on the lipid biochemical phenotype, gene involved, and mode of...

Go to »  abstract

Abidi Syndrome

Roger E. Stevenson, Charles E. Schwartz and R. Curtis Rogers.

in Atlas of X-Linked Intellectual Disability Syndromes

June 2012; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics. 510 words.

This chapter provides pictures and clinical details of ABIDI SYNDROME

Go to »  abstract

Abnormalities of CSF Neurotransmitters/Folates

Simon Heales, Simon Pope, Viruna Neergheen and Manju Kurian.

in Inherited Metabolic Disease in Adults

July 2016; p ublished online September 2016 .

Chapter. Subjects: Clinical Genetics. 6253 words.

The term Neurotansmitter disorder, in the area of metabolic disease, focuses particularly on inborn errors affecting monoamine (dopamine & serotonin), pyridoxal phosphate (B6) and folate...

Go to »  abstract

Absent pulmonary valve syndrome

Martin A. Nørgaard, Nelson Alphonso, Andrew E. Newcomb, Christian P. Brizard and Andrew D. Cochrane.

in European Journal of Cardio-Thoracic Surgery

May 2006; p ublished online May 2006 .

Journal Article. Subjects: Clinical Genetics; Professional Development in Medicine; Cardiothoracic Surgery; Cardiovascular Medicine. 3782 words.

Objective: To identify a large group of patients operated for absent pulmonary valve syndrome (APVS), and describe the outcomes of various subgroups and surgical strategies. Me...

Abundance of BER-related proteins depends on cell proliferation status and the presence of DNA polymerase β

Mizuki Yamamoto, Ryohei Yamamoto, Shigeo Takenaka, Satoshi Matsuyama and Kihei Kubo.

in Journal of Radiation Research

July 2015; p ublished online March 2015 .

Journal Article. Subjects: Clinical Genetics; Molecular Biology and Genetics; Epidemiology; Radiology; Nuclear Chemistry, Photochemistry, and Radiation. 4559 words.

In mammalian cells, murine N-methylpurine DNA glycosylase (MPG) removes bases damaged spontaneously or by chemical agents through the process called base excision repair (BER). In this...

Go to »  full text: open access

Accelerated senescence in skin in a murine model of radiation-induced multi-organ injury

Elizabeth A McCart, Rajesh L Thangapazham, Eric D Lombardini, Steven R Mog, Ronald Allan M Panganiban, Kelley M Dickson, Rihab A Mansur, Vitaly Nagy, Sung-Yop Kim, Reed Selwyn, Michael R Landauer, Thomas N Darling and Regina M Day.

in Journal of Radiation Research

September 2017; p ublished online March 2017 .

Journal Article. Subjects: Clinical Genetics; Molecular Biology and Genetics; Epidemiology; Radiology; Nuclear Chemistry, Photochemistry, and Radiation. 6543 words.

Abstract

Accidental high-dose radiation exposures can lead to multi-organ injuries, including radiation dermatitis. The types of cellular damage leading to...

Achondrogenesis Type 1A (Mim 200600)

Jürgen W. Spranger, Paula W. Brill, Gen Nishimura, Andrea Superti-Furga and Sheila Unger.

in Bone Dysplasias

September 2012; p ublished online November 2013 .

Chapter. Subjects: Clinical Genetics; Clinical Radiology. 595 words.

Chapter 51 covers achondrogenesis type 1A (MIM200600), including major clinical findings, radiographic features, and differential diagnoses.

Go to »  abstract