S. Yong

发表

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation.

Sarah Barber, Steven J. M. Jones, Martin Krzywinski, 2006, American journal of human genetics.

Rapp-Hodgkin syndrome: a review of the aspects of hair and hair color.

M. Martinka, J. Shapiro, Sung-Wook Park, 2005, Journal of the American Academy of Dermatology.

Thalassemia carrier screening and prenatal diagnosis among the British Columbia (Canada) population of Chinese descent

S. Langlois, L. Wadsworth, R. D. Wilson, 1999, Clinical genetics.

Characterization of a type VI collagen-related Mr-140 000 protein from cutis-laxa fibroblasts in culture.

S. Crawford, P. Bornstein, H. Sage, 1985, The Biochemical journal.

Identification and functional characterization of 2 variant alleles of the telomerase RNA template gene (TERC) in a patient with dyskeratosis congenita.

E. Blackburn, P. Lansdorp, Q. Ouyang, 2005, Blood.

Molecular characterization of a 4 409 480 bp deletion of the human X chromosome in a patient with haemophilia B

R. MacGillivray, L. Wadsworth, S. Yong, 2014, Haemophilia : the official journal of the World Federation of Hemophilia.

Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis

Steven J. M. Jones, S. Yip, S. Lear, 2014, American journal of medical genetics. Part A.

Confined chorionic mosaicism in prenatal diagnosis

D. Kalousek, B. McGillivray, R. D. Wilson, 1987, Human Genetics.

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

Allen D. Delaney, M. Marra, A. Delaney, 2009, BMC Genomics.

Clinical variability within Brachmann-de Lange syndrome: a proposed classification system.

J. F. Magee, A. Toi, M. V. Van Allen, 1993, American journal of medical genetics.

Borderline normal intelligence in the Smith-Lemli-Opitz (RSH) syndrome.

J. Opitz, R. Lowry, S. Yong, 1980, American journal of medical genetics.

Clinical and molecular findings in two patients with russell-silver syndrome and UPD7: comparison with non-UPD7 cases.

S. Langlois, W. Robinson, M. V. Van Allen, 1999, American journal of medical genetics.

Pseudohypoparathyroidism type 1a and the GNAS p.R231H mutation: Somatic mosaicism in a mother with two affected sons

W. Gibson, S. Mercimek-Mahmutoglu, S. Yong, 2010, American journal of medical genetics. Part A.

Apparent postnatal onset of some manifestations of the Wiedemann-Beckwith syndrome.

D. Chitayat, J. Friedman, R. Couch, 1990, American journal of medical genetics.

Use of a BamHI polymorphism in the factor IX gene for the determination of hemophilia B carrier status.

A. Thompson, S. Yong, R. Macgillivray, 1986, Blood.

Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7.

S. Langlois, D. Kalousek, R. D. Wilson, 1995, Journal of medical genetics.

Grandmaternal origin of an isochromosome 18p present in two maternal half-sisters.

W. Robinson, J. Boyle, S. Yong, 2001, American journal of medical genetics.

hemophilia B carrier status Use of a BamHI polymorphism in the factor IX gene for the determination of

S. Yong, R. Macgillivray, G. Growe, 2011 .

Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association.

R. Pagon, J. Zonana, S. Yong, 1981, The Journal of pediatrics.

RECOMBINATION WITHIN DXS52 (ST14) LOCUS IN FAMILY WITH HAEMOPHILIA A

B. Mcgillivray, S. Yong, C. Hay, 1987, The Lancet.

Evidence for multi-site closure of the neural tube in humans.

D. Chitayat, S. Langlois, D. Juriloff, 1993, American journal of medical genetics.

Cutis Laxa Arising from Frameshift Mutations in Exon 30 of the Elastin Gene (ELN)*

J M Davidson, J. Davidson, M. Giro, 1999, The Journal of Biological Chemistry.

Precocious Puberty in Two Girls With PEHO Syndrome: A Clinical Feature Not Previously Described

S. Langlois, M. Alfadhel, S. Yong, 2011, Journal of child neurology.

First‐Trimester Imaging of Combined Esophageal and Duodenal Atresia Without a Tracheoesophageal Fistula

S. Yong, D. Pugash, G. Marquette, 2004, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.

Molecular breakpoint mapping of 6q11‐q14 interstitial deletions in seven patients

M. Shago, A. Teebi, P. Eydoux, 2009, American journal of medical genetics. Part A.

An association between skewed X‐chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta

Carolyn J. Brown, S. Langlois, H. Bruyèrè, 2000, Clinical genetics.

Methylation profiling in individuals with Russell–Silver syndrome

C. Boerkoel, S. Langlois, D. Metzger, 2010, American journal of medical genetics. Part A.

Craniosynostosis associated with distal 5q‐trisomy: Further evidence that extra copy of MSX2 gene leads to craniosynostosis

T. Stockley, P. Eydoux, M. V. Van Allen, 2007, American journal of medical genetics. Part A.

TETRASOMY 12p (PALLISTER-KILLIAN SYNDROME): ULTRASOUND INDICATORS AND CONFIRMATION BY INTERPHASE FISH

K., L. Clarke, S. Yong, 2005 .

Submicroscopic deletions and duplications in individuals with intellectual disability detected by array‐CGH

M Somerville, M. Somerville, S. Langlois, 2005, American journal of medical genetics. Part A.

GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome.

R. Weksberg, C. Stevens, J. Squire, 2001, American journal of medical genetics.

Postnatal follow‐up of prenatally diagnosed trisomy 16 mosaicism

S. Langlois, D. Kalousek, P. Miny, 2006, Prenatal diagnosis.

Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2

Andrew J Sharp, Edward J Hollox, A. Sharp, 2013, European Journal of Human Genetics.

Pseudohypoparathyroidism: A case of hypocalcemia and hypothyroidism diagnosed during the postpartum period.

S. Yong, K. P. Lim, 2019, Malaysian family physician : the official journal of the Academy of Family Physicians of Malaysia.

Two cases of confined placental mosaicism for chromosome 4, including one with maternal uniparental disomy

S. Langlois, D. Kalousek, S. Yong, 2001, Prenatal diagnosis.

Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

S. Cheung, K. Devriendt, S. Gimelli, 2009, Journal of Medical Genetics.

a novel recognisable syndrome deletion region on chromosome 16 p 13 . 3 cause Taybi − Duplications of the critical Rubinstein

S. Cheung, K. Devriendt, S. Gimelli, 2022 .

Linkage analysis in 16 families with incontinentia pigmenti.

E. Hatchwell, S. Kenwrick, A. Read, 1997 .

Co‐occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy

B. Chung, I. Glass, D. Chitayat, 2010, American journal of medical genetics. Part A.

Morquio disease presenting as hydrops fetalis and enzyme analysis of chorionic villus tissue in a subsequent pregnancy.

R. D. Wilson, D. Applegarth, J. Toone, 1987, Pediatric pathology.

Recurrence of extrahepatic biliary atresia in two half sibs.

U. Steinbrecher, E. Hassall, S. Yong, 1992, American journal of medical genetics.

Prenatal diagnosis of apparently isolated unilateral multicystic kidney: implications for counselling and management

B. Mcgillivray, M. V. Van Allen, L. Arbour, 2002, Prenatal diagnosis.

Oral submucous fibrosis in a 12-year-old Bangladeshi boy: a case report and review of literature.

S. Yong, H. Yusuf, 2002, International journal of paediatric dentistry.

A Retrospective Review of 25 cases of Lethal Fetal Anomalies

S. Yong, A. Mokhtar, D. Abdulwahab, 2020 .

Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH

F. Bernier, P. Macleod, A. Chudley, 2008, Molecular Cytogenetics.

Cleft lip and palate, sensorineural deafness, and sacral lipoma in two brothers: a possible example of the disorganisation mutant.

R. Lowry, S. Yong, 1991, Journal of medical genetics.

Long term survival of an infant with sirenomelia.

D. Stringer, L. Clarke, S. Yong, 1993, American journal of medical genetics.

Fetal progeria: prenatal sonographic findings in petty syndrome.

A. Lehman, L. Clarke, D. Pugash, 2013, Journal of ultrasound in medicine.

Fetal Progeria: Prenatal Sonographic Findings in Petty Syndrome

A. Lehman, L. Clarke, D. Pugash, 2013 .

A new missense mutation in glucocerebrosidase exon 9 of a non-Jewish Caucasian type 1 Gaucher disease patient.

D. Applegarth, C. Wei, S. Yong, 1994, Human Molecular Genetics.

Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7.

S. Langlois, D. Kalousek, S. Yong, 1995, Journal of medical genetics.