M. C. Phelan

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Deletion 22q13.3 syndrome

M. C. Phelan, 2008, Orphanet journal of rare diseases.

Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome.

C. Schwartz, J. Carey, R. Schroer, 1988, American journal of human genetics.

Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf–Hirschhorn syndrome

M. Hayden, R. Stevenson, R. Tanzi, 1985, Nature.

Deletion 22 q 13 . 3 syndrome

M. C. Phelan, 2015 .

Inverted duplication of 8p: ten new patients and review of the literature.

G. Feldman, L. Weiss, R. Schroer, 1993, American journal of medical genetics.

Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21.

G. D. Stewart, R. Stevenson, R. Tanzi, 1988, American journal of human genetics.

DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader–Willi syndromes and imprinting

D. J. Driscoll, L. Surh, Thomas P. Yang, 2000, Prenatal diagnosis.

Determinants of ridge counts in MZ twin kinships.

W. Nance, L. Corey, M. C. Phelan, 1981, Acta geneticae medicae et gemellologiae.

Discordant expression of fetal hydantoin syndrome in heteropaternal dizygotic twins.

W. Nance, J. Pellock, M. C. Phelan, 1982, The New England journal of medicine.

Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B.

E. Pivnick, A. Tunnacliffe, R. Michaelis, 1998, American journal of medical genetics.

Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities

L. Shaffer, P. O’Brien, E. Schröck, 1997, Human Genetics.

22q13 Deletion Syndrome: An Update and Review for the Primary Pediatrician

J. Graham, J. Havens, J. Visootsak, 2004, Clinical pediatrics.

Fragile X syndrome and neoplasia.

R. Stevenson, M. C. Phelan, J. Collins, 1988, American journal of medical genetics.

Prenatal diagnosis of mosaicism for triploidy and trisomy 13

R. Michaelis, M. C. Phelan, W. Blackburn, 2001, Prenatal diagnosis.

Vascular steal: the pathogenetic mechanism producing sirenomelia and associated defects of the viscera and soft tissues.

K. Benirschke, R. Stevenson, K. Jones, 1986, Pediatrics.

Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms

H. McDermid, A. Wong, M. C. Phelan, 2003, Journal of medical genetics.

Microsatellite analysis reveals a high incidence of maternal cell contamination in 46,XX products of conception consisting of villi or a combination of villi and membranous material.

R. Michaelis, R. Best, M. C. Phelan, 2001, American journal of obstetrics and gynecology.

Albright hereditary osteodystrophy and del(2) (q37.3) in four unrelated individuals.

W. Dobyns, R. C. Rogers, M. Levine, 1995, American journal of medical genetics.

Deletion 22q13 Syndrome (Phelan-McDermid Syndrome)

R. C. Rogers, M. C. Phelan, G. A. Stapleton, 2005 .

22q13 deletion syndrome.

H. McDermid, R. C. Rogers, R. Saul, 2001, American journal of medical genetics.

Cytogenetic, biochemical, and molecular analyses of a 22q13 deletion.

H. McDermid, R. C. Rogers, R. Saul, 1992, American journal of medical genetics.

Two sisters with a distal deletion at the Xq26/Xq27 interface: DNA studies indicate that the gene locus for factor IX is present

R. Stevenson, C. Schwartz, M. C. Phelan, 1987, Human Genetics.

Intersitial deletion of 20p: new candidate region for Hirschsprung disease and autism?

C. Skinner, S. Skinner, R. Deason, 1997, American journal of medical genetics.

Prenatal diagnosis of mosaicism for deletion 22q13.3

M. C. Phelan, R. Curtis Rogers, Elizabeth F. Brown, 2001, Prenatal diagnosis.

Paracentric inversions in humans: a review of 446 paracentric inversions with presentation of 120 new cases.

P. N. Rao, A. Carroll, M. Pettenati, 1995, American journal of medical genetics.

Vascular basis for neural tube defects: a hypothesis.

R. Stevenson, A. Aylsworth, M. C. Phelan, 1987, Pediatrics.

Autism and maternally derived aberrations of chromosome 15q.

M. Cuccaro, C. Skinner, R. Stevenson, 1998, American journal of medical genetics.

Two patients with duplication of 17p11.2: the reciprocal of the Smith-Magenis syndrome deletion?

C. Schwartz, R. C. Rogers, M. C. Phelan, 1996, American journal of medical genetics.

Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2‐q22.1

James P. Evans, R. Stevenson, C. Schwartz, 1995, Clinical genetics.

Recombinant chromosome 9 possibly derived from breakage and reunion of sister chromatids within a paracentric inversion loop.

R. Stevenson, M. C. Phelan, E. V. Anderson, 1993, American journal of medical genetics.

Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.

W. Brown, G. Spiridigliozzi, A. McConkie-Rosell, 1993, American journal of human genetics.

A Deletion in the Long Arm of Chromosome 18 in a Child with Serum Carnosinase Deficiency1

R. Michaelis, K. Holden, S. Willi, 1997, Pediatric Research.

Brachmann-de Lange syndrome: diagnostic difficulties posed by the mild phenotype.

R. Stevenson, R. C. Rogers, R. Saul, 1993, American journal of medical genetics.

B-Cell Lymphoma With Intermediate- to High- Grade Features and Different Immunophenotypic Profiles Involving Separate Anatomic Sites With a Good Response to R-CHOP

D. Henley, C. Ramsey, M. C. Phelan, 2009 .

Additional studies warranted to confirm monosomy 21

M. C. Phelan, 2002, Prenatal diagnosis.

STK25 is a candidate gene for pseudopseudohypoparathyroidism.

N. Copeland, D. Gilbert, N. Jenkins, 2001, Genomics.

Deletion involving D15S113 in a mother and son without Angelman syndrome: refinement of the Angelman syndrome critical deletion region.

S. Skinner, T. Donlon, R. Simensen, 1995, American journal of medical genetics.

Paracentric inversion of chromosome 19 in three generations.

R. Schroer, M. C. Phelan, E. Krug, 1989, American journal of medical genetics.

Fragile X syndrome: linkage analysis in black and white populations.

S. Thibodeau, C. Schwartz, W. Brown, 1988, American journal of medical genetics.

Prenatal diagnosis of mosaic 4p – in a fetus with trisomy 21

S. Skinner, R. Saul, M. C. Phelan, 1995, Prenatal diagnosis.

Fragile X syndrome: incidence, clinical and cytogenetic findings in the black and white populations of South Carolina.

C. Schwartz, R. C. Rogers, R. Saul, 1988, American journal of medical genetics.

The parental origin and mechanism of formation of three dicentric X chromosomes

D. Page, R. Stevenson, C. Schwartz, 1988, Human Genetics.

Velocardiofacial syndrome in an unexplained XX male

L. Brown, R. C. Rogers, M. C. Phelan, 2003, American journal of medical genetics. Part A.

Clinical Report Velocardiofacial Syndrome in an Unexplained XX Male

L. Brown, D. Page, R. C. Rogers, 2003 .

Deletion 22q13.3 syndrome.

M. C. Phelan, 2008, Orphanet journal of rare diseases.

FISH analysis of a complex chromosome rearrangement involving nine breakpoints on chromosomes 6, 12, 14 and 16

Y. Ning, T. Ried, E. Schrock, 1998, Prenatal diagnosis.