A. Smith

发表

Unbalanced placental expression of imprinted genes in human intrauterine growth restriction.

R. Weksberg, B. Tycko, N. Schupf, 2006, Placenta.

Animal Cytogenetics and Comparative Mapping

A. Spada, R. Martinez, B. Sopher, 2001 .

Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion.

U. Francke, V. Riccardi, E. Sujansky, 1978, Pediatrics.

Clinicopathologic and dysmorphic findings in recombinant chromosome 8 syndrome.

T. McConnell, F. Martínez, T. Williams, 1984, Human pathology.

Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

B. Fernandez, C. Polychronakos, M. Tarnopolsky, 2015, Clinical genetics.

Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2).

F Greenberg, F. Greenberg, Ann C M Smith, 1998, American journal of medical genetics.

Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.

D. Ledbetter, W. Dobyns, S. Chong, 1997, Human molecular genetics.

Linkage analysis using multiple DNA polymorphic markers in normal families and in families with fragile X syndrome

S. Thibodeau, K. Davies, R. Berry, 1988, Human Genetics.

Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3.

D. Ledbetter, J. Bailey-Wilson, W. Dobyns, 1999, American journal of medical genetics.

Distinctiveness and correlates of maladaptive behaviour in children and adolescents with Smith-Magenis syndrome.

E. Dykens, A. Smith, A. Smith, 1998, Journal of intellectual disability research : JIDR.

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

J. Lupski, P. Patel, W. Dobyns, 1991, American journal of human genetics.

Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.

S. Zhang, J. Callahan, Sunqu Zhang, 2000, American journal of human genetics.

Sleep disturbance in Smith-Magenis syndrome (del 17 p11.2).

F. Greenberg, Ann C M Smith, E. Dykens, 1998, American journal of medical genetics.

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing

B. Fernandez, K. Boycott, T. Hartley, 2017, Clinical genetics.

A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.

D. Ledbetter, A. Tanigami, W. Dobyns, 1997, Human molecular genetics.

Stress and coping in families of children with Smith-Magenis syndrome.

R. Hodapp, D. Fidler, A. Smith, 2002, Journal of intellectual disability research : JIDR.

Interstitial deletion of (17)(p11.2p11.2) in nine patients.

J. Opitz, J. Reiss, L. Mcgavran, 1986, American journal of medical genetics.

Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.

P. Byers, D. Milewicz, Ann C M Smith, 1993, American journal of human genetics.

Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein.

R. Weksberg, K. Gripp, J. Callahan, 2000, American journal of human genetics.

Institutional screening for the fragile X syndrome.

R. Berry, R. Hagerman, L. Mcgavran, 1988, American journal of diseases of children.

Consideration of connective tissue dysfunction in the fragile X syndrome.

J. Opitz, R. Hagerman, L. Mcgavran, 1984, American journal of medical genetics.

Genetic risk for recombinant 8 syndrome and the transmission rate of balanced inversion 8 in the Hispanic population of the southwestern United States.

A. Robinson, T. McConnell, T. Williams, 1987, American journal of human genetics.

Familial pericentric inversion of chromosome 8.

J. Opitz, D. Peakman, A. Robinson, 1981, American journal of medical genetics.

Genomic imprinting of PPP1R9A encoding neurabin I in skeletal muscle and extra-embryonic tissues

P Stanier, K Nakabayashi, D Monk, 2004, Journal of Medical Genetics.

A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys

K. Boycott, D. Bulman, K. Kernohan, 2018, Clinical genetics.

TO JMG Genomic imprinting of PPP 1 R 9 A encoding neurabin I in skeletal muscle and extraembryonic tissues

S. Scherer, M. Oshimura, Y. Yoshikawa, 2004 .

In vivo expansion of trinucleotide repeats yields plasmid and YAC constructs for targeting and transgenesis.

A. L. La Spada, B. Sopher, A. Smith, 2000, Gene.

Inverted tandem duplication of the middle segment of the long arm of chromosome 14.

A. Robinson, B. Ward, A. Smith, 1981, Pediatrics.

Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis.

D. Ledbetter, L. Surh, S. Aradhya, 1996, Journal of medical genetics.

Monozygotic twin girls with congenital malformations resembling fanconi anemia.

A. Auerbach, L. Mcgavran, T. Hays, 1992, American journal of medical genetics.

Mother‐to‐daughter transmission of Kenny–Caffey syndrome associated with the recurrent, dominant FAM111A mutation p.Arg569His

K. Boycott, D. Bulman, J. Marcadier, 2014, Clinical genetics.