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B.A. Breen

Overview page. Subjects: Literature.

(1938– ),

born St Arnaud, Victoria, is a teacher in the Victorian Education Department. He has published two books of verse, Behind My Eyes (1968), inter im (1973, a tiny pamphlet)...

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HNF1B-MODY: A Disorder of Development With Diabetes and Congenital Malformations in the Pancreas and Urogenital Tract Due to Mutations in <i>HNF1B</i>

Oddmund Søvik, Jørn V. Sagen, Ingfrid S. Haldorsen, Erling Tjora and PåL R. Njølstad.

in Epstein's Inborn Errors of Development

June 2016; p ublished online July 2016 .

Chapter. Subjects: Clinical Genetics. 5457 words.

Chapters provides overview of pathways of development and reviews of dysmorphic syndromes for which the causative gene has been identified. For each disorder, an analysis of the role of the...

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Acquisition-weighted MRSI for Detection and Quantification of BNCT <sup>10</sup>B-carrier L-<i>p</i>-boronophenylalanine-fructose Complex, a Phantom Study

Marjut Timonen, Leena Kankaanranta, Nina Lundbom, Mika Kortesniemi, Tiina SeppäLä, Mauri Kouri, Sauli Savolainen and Sami Heikkinen.

in Journal of Radiation Research

September 2009; p ublished online July 2009 .

Journal Article. Subjects: Clinical Genetics; Molecular Biology and Genetics; Epidemiology; Radiology; Nuclear Chemistry, Photochemistry, and Radiation. 0 words.

Proton magnetic resonance spectroscopy (1H MRS) is a potential method to detect and quantify a boron neutron capture therapy 10B-carrier compound, L-p-boronophenylalanine (BPA), in the...

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Craniofrontonasal Syndrome and <i>EFNB1</i> Mutations

Peter Wieacker and Judit Horvath.

in Epstein's Inborn Errors of Development

June 2016; p ublished online July 2016 .

Chapter. Subjects: Clinical Genetics. 2958 words.

Craniofrontonasal syndrome (CFNS) is mainly characterized by hypertelorism, asymmetry, midline defects, and skeletal abnormalities. This X-linked syndrome shows an unexpected pattern of...

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LMX1B and the Nail-Patella Syndrome

Philippe M. Campeau, Nadejda A. Bespalova and Brendan H. Lee.

in Epstein's Inborn Errors of Development

June 2016; p ublished online July 2016 .

Chapter. Subjects: Clinical Genetics. 5731 words.

Nail patella syndrome (NPS) is a dominantly inherited skeletal malformation syndrome. Patients have characteristic features including nail and patella hypoplasia, elbow and knee...

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Peters Plus Syndrome

Saskia A. J. Lesnik Oberstein, Martine J. Van Belzen and Raoul C. M. Hennekam.

in Epstein's Inborn Errors of Development

June 2016; p ublished online July 2016 .

Chapter. Subjects: Clinical Genetics. 2059 words.

Peters Plus syndrome (PPS) is a multiple congenital malformation syndrome characterized by abnormalities of the anterior chamber of the eye, disproportionate short stature and...

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Genomic Diversity of HLA in the Indian Subcontinent

Narinder K. Mehra and Gurvinder Kaur.

in Genomics and Health in the Developing World

May 2012; p ublished online February 2014 .

Chapter. Subjects: Clinical Genetics. 4069 words.

Chapter 75 discusses genomic diversity of HLA in the Indian subcontinent, including HLA alleles (A2, A19, B27, HLA-C), the class-II region, unique features of HLA-DR3 positive haplotypes in...

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<i>VPS33B, VIPAS39</i>, and the Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome

Paul Gissen.

in Epstein's Inborn Errors of Development

June 2016; p ublished online July 2016 .

Chapter. Subjects: Clinical Genetics. 3141 words.

Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome (OMIM 208085 and 613404) is a severe multisystem autosomal recessive disorder first described in the 1970s, and to date,...

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Cystathionine Beta-Synthase Deficiency or Classical Homocystinuria

Henk J. Blom, Mirian C.H. Janssen and Manuel Schiff.

in Inherited Metabolic Disease in Adults

July 2016; p ublished online September 2016 .

Chapter. Subjects: Clinical Genetics. 4262 words.

Inherited homocystinurias have in common accumulation of homocysteine and encompass two distinctive entities: classical homocystinuria due to cystathionine β‎-synthase (CBS) deficiency and...

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Complex Rearrangements

R. J. McKinlay Gardner, Grant R. Sutherland and Lisa G. Shaffer.

in Chromosome Abnormalities and Genetic Counseling

November 2011; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics. 4479 words.

COMPLEX CHROMOSOMAL REARRANGEMENTS (CCRs) occurring in phenotypically normal persons are rare. Familial cases comprise a minority, with only about 35 examples recorded by the...

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Approach to the Patient with Hyperhomocysteinemia

Anthony Briddon.

in Inherited Metabolic Disease in Adults

July 2016; p ublished online September 2016 .

Chapter. Subjects: Clinical Genetics. 2559 words.

Hyperhomocysteinaemia (HHC) may occur as a result of a variety of inherited and acquired conditions ranging from mild and benign to severe and life threatening, and there is a higher...

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