D. Aughton

发表

Marked female predilection in some syndromes associated with facial hemangiomas.

J. Mulliken, R. Gorlin, P. Kantaputra, 1994, American journal of medical genetics.

Physical features of Prader-Willi syndrome in neonates.

S. Cassidy, D. Aughton, 1990, American journal of diseases of children.

Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations

A. Guttmacher, L. Biesecker, J. Graham, 2001, Human Genetics.

Pseudohypoparathyroidism type 1A and morbid obesity in infancy.

M. Levine, D. Aughton, Bassem H Dekelbab, 2009, Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists.

Isolated Bicuspid Aortic Valve in a Newborn With Down Syndrome

T. Riggs, E. Weinhouse, D. Aughton, 1995, Clinical pediatrics.

Constitutional 560.49 kb chromosome 2p24.3 duplication including the MYCN gene identified by SNP chromosome microarray analysis in a child with multiple congenital anomalies and bilateral Wilms tumor.

M. Micale, D. Aughton, Jacqueline K. Macknis, 2016, European journal of medical genetics.

Dizygotic twins concordant for truncus arteriosus

L. Biesecker, T. Riggs, M. Milad, 1991, Clinical genetics.

Prenatal diagnosis of Smith-Lemli-Opitz syndrome, type II.

C. Comstock, J. A. Johnson, J. Higgins, 1994, American journal of medical genetics.

Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes : Robust Phenotype Prediction from the Type and Position of GLI 3 Mutations

E. Zackai, L. Biesecker, J. Graham, 2005 .

Clinical anophthalmia, dextrocardia, and skeletal anomalies in an infant born to consanguineous parents.

D. Aughton, 1990, American journal of medical genetics.

Nasopharyngeal teratoma ('hairy polyp'), Dandy-Walker malformation, diaphragmatic hernia, and other anomalies in a female infant.

D. Aughton, T. E. Huang, C. Harper, 1990, Journal of medical genetics.

Transient elevation of sweat chloride concentration in a malnourished girl with the Mauriac syndrome.

F. Polack, B. Freij, D. Aughton, 1995, The Journal of pediatrics.

X‐linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male

R. Pauli, R. Kelley, V. Pureza, 2003, American journal of medical genetics. Part A.

Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome.

D. Rimoin, A. Nerlich, M. Gonzalès, 2002, American journal of medical genetics.

Dir dup(X) (q13-->qter) in a girl with growth retardation, microcephaly, developmental delay, seizures, and minor anomalies.

J. Johnson, D. Aughton, D. Transue, 1993, American journal of medical genetics.

Further delineation of Kabuki syndrome in 48 well‐defined new individuals

Marc S. Williams, E. Zackai, R. Hennekam, 2005, American journal of medical genetics. Part A.

Delineation of complex chromosomal rearrangements: evidence for increased complexity

S. Schwartz, L. Christ, B. Pletcher, 2004, Human Genetics.

Diploid/tetraploid mosaicism in a liveborn infant demonstrable only in the bone marrow: case report and literature review

H. Saal, Z. Rahman, D. Aughton, 1988, Clinical genetics.

Letters to the Editor

P. Fischer, T. Riggs, D. Aughton, 1995 .

Detection of deletions in de novo “balanced” chromosome rearrangements: Further evidence for their role in phenotypic abnormalities

E. Eichler, S. Schwartz, L. Christ, 2004, Genetics in Medicine.

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

E. Zackai, A. Guttmacher, M. Bamshad, 2005, American journal of human genetics.

Chromosome 7p--syndrome: craniosynostosis with preservation of region 7p2.

A. Guttmacher, D. Whiteman, S. Cassidy, 1991, American journal of medical genetics.

Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics.

S Schwartz, S. Schwartz, J. Opitz, 1997, American journal of medical genetics.

Cholelithiasis in Infants with Down Syndrome

D. Aughton, A. Cacciarelli, P. Gibson, 1992, Clinical pediatrics.

Müllerian duct abnormalities and galactosaemia heterozygosity: report of a family

D. Aughton, 1993, Clinical Dysmorphology.

Balanced reciprocal translocation mosaicism associated with an abnormal phenotype.

A. Canady, D. Aughton, A. A. AlSaadi, 1993, American journal of medical genetics.

Large duplication in MTM1 associated with myotubular myopathy

J. Dowling, A. Beggs, M. Lawlor, 2013, Neuromuscular Disorders.

Hydrolethalus syndrome: Report of an apparent mild case, literature review, and differential diagnosis

J. Opitz, S. Cassidy, J. F. Reynolds, 1987, American journal of medical genetics.

Single maxillary central incisor in a girl with del(18p) syndrome.

D. Aughton, D. Transue, A. A. AlSaadi, 1991, Journal of medical genetics.

Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region 2p21.

P. Bray-Ward, D. Ward, J. Wienberg, 1996, Human molecular genetics.

Sonographic detection of hydrolethalus syndrome.

D. Aughton, 1994, Journal of clinical ultrasound : JCU.

Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children

M. Rivkin, W. Gahl, M. Huizing, 2003, American journal of medical genetics. Part A.

Velopharyngeal insufficiency, submucous cleft palate and a phonological disorder as the associated clinical features which led to the diagnosis of Jacobsen syndrome. Case report and review of the literature.

A. Ysunza, R. Merson, K. Shaheen, 2013, International journal of pediatric otorhinolaryngology.

Clinical outcome of fetuses with sonographic diagnosis of isolated micrognathia.

C. Comstock, R. Bronsteen, Wesley Lee, 2003, Obstetrics and gynecology.

Down syndrome and omphalocele: an underrecognized association.

D. Aughton, D. Dewitte, C. Harper, 1994, Pediatrics.

Single maxillary central incisor in a girl with del(18p) syndrome.

D. Aughton, A. A. AlSaadi, D. J. Transue, 1991, Journal of medical genetics.

Ankyloblepharon filiforme adnatum and imperforate anus.

D. Aughton, K. G. Hufnagle, 1993, American journal of medical genetics.